<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">mimmun</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская иммунология</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Immunology (Russia)</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1563-0625</issn><issn pub-type="epub">2313-741X</issn><publisher><publisher-name>SPb RAACI</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.15789/1563-0625-2017-5-505-512</article-id><article-id custom-type="elpub" pub-id-type="custom">mimmun-1349</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>КЛИНИЧЕСКИЕ И ЭПИДЕМИОЛОГИЧЕСКИЕ АСПЕКТЫ ПЕРВИЧНЫХ ИММУНОДЕФИЦИТНЫХ СОСТОЯНИЙ И ИХ РАННЕГО ОБНАРУЖЕНИЯ</article-title><trans-title-group xml:lang="en"><trans-title>CLINICAL AND EPIDEMIOLOGICAL ASPECTS OF PRIMARY IMMUNODEFICIENCY DISEASES (PID) AND EARLY DIAGNOSIS OPTIONS</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Корсунский</surname><given-names>И. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Korsunskiy</surname><given-names>I. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Корсунский И.А. – кандидат медицинских наук, заведующий клиникодиагностическим центром детской иммунологии и аллергологии ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</p><p>Москва.</p></bio><bio xml:lang="en"><p>Korsunskiy I.A., PhD (Medicine), Head, Center of Pediatric Immunology and Allergy, Moscow City Pediatric G. Speransky Clinical Hospital No. 9.</p><p>Moscow.</p></bio><email xlink:type="simple">iliakors@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гордукова</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Gordukova</surname><given-names>M. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гордукова М.А. –  врач клинической и лабораторной диагностики ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</p><p>Москва.</p></bio><bio xml:lang="en"><p>Gordukova M.A., Doctor for Clinical Laboratory Diagnostics, Moscow City Pediatric G. Speransky Clinical Hospital No. 9.</p><p>Moscow.</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мунблит</surname><given-names>Д. Б.</given-names></name><name name-style="western" xml:lang="en"><surname>Munblit</surname><given-names>D. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мунблит Д.Б. – кандидат медицинских наук, научный сотрудник, кафедра педиатрии и детских инфекционных болезней педиатрического факультета ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова», Москва; Имперский колледж Лондона, Лондон, Великобритания</p></bio><bio xml:lang="en"><p>Munblit D.B., PhD (Medicine), Honorary Research Associate, Department of Pediatrics and Infections in Children, Pediatric Faculty, The First Moscow I. Sechenov Medical University, Moscow, Russian Federation; Imperial College London, London</p></bio><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Козлов</surname><given-names>И. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Kozlov</surname><given-names>I. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Козлов И.Г. – доктор медицинских наук, профессор, заведующий кафедрой фармакологии ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Министерства здравоохранения РФ; заведующий лабораторией экспериментальной и клинической фармакологии ФГБУ «Федеральный научно-практический центр детской гематологии, онкологии и иммунологии им. Д. Рогачева».</p><p>Москва.</p></bio><bio xml:lang="en"><p>Kozlov I.G., PhD, MD (Medicine), Professor, Head, Department of Pharmacology, Russian National N.I. Pirogov Research Medical University; Chief, Laboratory of Experimental and Clinical Pharmacology, Federal D. Rogachev Research and Clinical Centre of Pediatric Hematology, Oncology, and Immunology.</p><p>Moscow.</p></bio><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Продеус</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Prodeus</surname><given-names>A. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Продеус А.П. – доктор медицинских наук, профессор, заведующий кафедрой педиатрии, ФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова»; руководитель отделения иммунологии и ревматологии, ФГБУ «Федеральный научнопрактический центр детской гематологии, онкологии и иммунологии им. Д. Рогачева»; ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</p><p>Москва. </p></bio><bio xml:lang="en"><p>Prodeus A.P., PhD, MD (Medicine), Professor, Head, Department of Pediatrics, Russian National Research N.I. Pirogov Medical University; Head of Department of Immunology and Rheumatology, Federal D. Rogachev Research and Clinical Center for Pediatric Hematology, Oncology and Immunology; Moscow City Pediatric G. Speransky Clinical Hospital No. 9.</p><p>Moscow.</p></bio><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Корсунский</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Korsunskiy</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Корсунский А.А. – доктор медицинских наук, профессор, заведующий кафедрой педиатрии и детских инфекционных болезней педиатрического факультета ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова»; ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</p><p>Москва.</p></bio><bio xml:lang="en"><p>Korsunskiy A.A., PhD, MD (Medicine), Professor, Head, Department of Pediatrics and Infections in Children, Pediatric Faculty, The First Moscow I. Sechenov Medical University; Moscow City Pediatric G. Speransky Clinical Hospital No. 9.</p><p>Moscow.</p></bio><xref ref-type="aff" rid="aff-6"/></contrib></contrib-group><aff xml:lang="ru" id="aff-1"><institution>ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</institution><country>Russian Federation</country></aff><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow City Pediatric G. Speransky Clinical Hospital No. 9.</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова»; Имперский колледж Лондона.</institution><country>Россия</country></aff><aff xml:lang="en"><institution>The First Moscow I. Sechenov Medical University; Imperial College London.</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Министерства здравоохранения РФ; ФГБУ «Федеральный научно-практический центр детской гематологии, онкологии и иммунологии им. Д. Рогачева».</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal D. Rogachev Research and Clinical Center for Pediatric Hematology, Oncology and Immunology; Russian National Research N.I. Pirogov Medical University.</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>ФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова»; ФГБУ «Федеральный научнопрактический центр детской гематологии, онкологии и иммунологии им. Д. Рогачева»; ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow City Pediatric G. Speransky Clinical Hospital No. 9;  Federal D. Rogachev Research and Clinical Center for Pediatric Hematology, Oncology and Immunology;  Russian National Research N.I. Pirogov Medical University.</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru"><institution>ФГАОУ ВО «Первый Московский государственный медицинский университет имени И.М. Сеченова»; ГБУЗ «Детская городская больница № 9 имени Г.Н. Сперанского ДЗМ».</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Moscow City Pediatric G. Speransky Clinical Hospital No. 9;  The First Moscow I. Sechenov Medical University.</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2017</year></pub-date><pub-date pub-type="epub"><day>18</day><month>10</month><year>2017</year></pub-date><volume>19</volume><issue>5</issue><fpage>505</fpage><lpage>512</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Корсунский И.А., Гордукова М.А., Мунблит Д.Б., Козлов И.Г., Продеус А.П., Корсунский А.А., 2017</copyright-statement><copyright-year>2017</copyright-year><copyright-holder xml:lang="ru">Корсунский И.А., Гордукова М.А., Мунблит Д.Б., Козлов И.Г., Продеус А.П., Корсунский А.А.</copyright-holder><copyright-holder xml:lang="en">Korsunskiy I.A., Gordukova M.A., Munblit D.B., Kozlov I.G., Prodeus A.P., Korsunskiy A.A.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.mimmun.ru/mimmun/article/view/1349">https://www.mimmun.ru/mimmun/article/view/1349</self-uri><abstract><p>Неонатальный скрининг первичных иммунодефицитных состояний делает возможным раннее обнаружение тяжелых и среднетяжелых поражений иммунной системы, а эффективность современных протоколов лечения этой группы заболеваний несомненна. Результаты нескольких запущенных в последние годы скрининговых программ показывают высокую чувствительность и специфичность скрининга, высокую выживаемость пациентов, что, в свою очередь, доказывает необходимость введения первичных иммунодефицитных состояний в программу неонатального скрининга России.</p></abstract><trans-abstract xml:lang="en"><p>Neonatal screening for primary immunodeficiencies (PID) provides a unique opportunity for early detection of moderate to severe immune disorders. Thus, the patients could be provided with best available therapy, due to effective treatment according to updated PID management guidelines. Clinical outcomes of recently implemented screening programs have demonstrated high sensitivity and specificity of the diagnostic techniques used and good survival rates. The existing evidence provides a strong basis for inclusion of PID screening into general Russian neonatal screening program.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>ПИД</kwd><kwd>ТКИН</kwd><kwd>неонатальный скрининг</kwd><kwd>TREC</kwd><kwd>KREC</kwd></kwd-group><kwd-group xml:lang="en"><kwd>primary immune deficiency</kwd><kwd>SCID</kwd><kwd>NBS</kwd><kwd>TREC</kwd><kwd>KREC</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Гордукова М.А., Оскорбин И.П., Мишукова О.В., Зимин С.Б., Зиновьева Н.В., Давыдова Н.В., Смир-нова А.С., Никитина И.А., Корсунский И.А., Филипенко М.Л., Продеус А.П. Разработка набора реагентов для количественного определения молекул ДНК TREC и KREC в цельной крови и сухих пятнах крови методом мультиплексной ПЦР в режиме реального времени // Медицинская иммунология, 2015. Т. 17, № 5. С. 467-478. [Gordukova M.A., Oskorbin I.P., Mishukova O.V., Zimin S.B., Zinovieva N.V., Davydova N.V., Smirnova A.S., Nikitina I.A., Korsunskiy I.A., Filipenko M.L., Prodeus A.P. Development of real-time multiplex PCR for the quantitative determination of TREC's and KREC's in whole blood and in dried blood spots. Meditsinskayaimmunologiya=Medical Immunology (Russia), 2015, Vol. 17, no. 5, pp. 467-478. (In Russ.)] doi: 10.15789/1563-0625-2015-5-467-478.</mixed-citation><mixed-citation xml:lang="en">Гордукова М.А., Оскорбин И.П., Мишукова О.В., Зимин С.Б., Зиновьева Н.В., Давыдова Н.В., Смир-нова А.С., Никитина И.А., Корсунский И.А., Филипенко М.Л., Продеус А.П. Разработка набора реагентов для количественного определения молекул ДНК TREC и KREC в цельной крови и сухих пятнах крови методом мультиплексной ПЦР в режиме реального времени // Медицинская иммунология, 2015. Т. 17, № 5. С. 467-478. [Gordukova M.A., Oskorbin I.P., Mishukova O.V., Zimin S.B., Zinovieva N.V., Davydova N.V., Smirnova A.S., Nikitina I.A., Korsunskiy I.A., Filipenko M.L., Prodeus A.P. Development of real-time multiplex PCR for the quantitative determination of TREC's and KREC's in whole blood and in dried blood spots. Meditsinskayaimmunologiya=Medical Immunology (Russia), 2015, Vol. 17, no. 5, pp. 467-478. (In Russ.)] doi: 10.15789/1563-0625-2015-5-467-478.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Дерябина С.С., Тузанкина И.А., Власова Е.В., Лаврина С.Г., Шершнев В.Н. Ретроспективная диагностика первичных иммунодефицитных состояний у детей в Свердловской области // Медицин-ская иммунология, 2016. Т. 18, № 6. С. 583-588. [Deryabina S.S., Tuzankina I.A., Vlasova E.V., Lavrina S.G., Shershnev V.N. Retrospective diagnosis of primary immunodeficiencies for children in Sverdlovsk Region. Meditsinskaya immunologiya = Medical Immunology (Russia), 2016, Vol. 18, no. 6, pp. 583-588. (In Russ.)] doi: 10.15789/1563-0625-2016-6-583-588.</mixed-citation><mixed-citation xml:lang="en">Дерябина С.С., Тузанкина И.А., Власова Е.В., Лаврина С.Г., Шершнев В.Н. Ретроспективная диагностика первичных иммунодефицитных состояний у детей в Свердловской области // Медицин-ская иммунология, 2016. Т. 18, № 6. С. 583-588. [Deryabina S.S., Tuzankina I.A., Vlasova E.V., Lavrina S.G., Shershnev V.N. Retrospective diagnosis of primary immunodeficiencies for children in Sverdlovsk Region. Meditsinskaya immunologiya = Medical Immunology (Russia), 2016, Vol. 18, no. 6, pp. 583-588. (In Russ.)] doi: 10.15789/1563-0625-2016-6-583-588.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Пушкова Е.С., Кан Н.Ю., Федорова Л.А., Корсунский А.А., Продеус А.П., Щербина А.Ю. Вакци-нация иммунокомпрометированных детей // Кремлевская медицина. Клинический вестник, 2014. Т. 3. С. 12-17. [Pushkova E.S., Kahn N.Yu., Fedorova L.A., Korsunskiy A.A., Prodeus A.P., Shcherbina A.Yu. Vaccination of immunocompromised children. Kremliovskaya meditsina. Klinicheskiy vestnik = The Kremlin Medicine. Clinical Gazette, 2014, Vol. 3, pp. 12-17. (In Russ.)]</mixed-citation><mixed-citation xml:lang="en">Пушкова Е.С., Кан Н.Ю., Федорова Л.А., Корсунский А.А., Продеус А.П., Щербина А.Ю. Вакци-нация иммунокомпрометированных детей // Кремлевская медицина. Клинический вестник, 2014. Т. 3. С. 12-17. [Pushkova E.S., Kahn N.Yu., Fedorova L.A., Korsunskiy A.A., Prodeus A.P., Shcherbina A.Yu. Vaccination of immunocompromised children. Kremliovskaya meditsina. Klinicheskiy vestnik = The Kremlin Medicine. Clinical Gazette, 2014, Vol. 3, pp. 12-17. (In Russ.)]</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Al-Herz W., Bousfiha A., Casanova J.L., Chatila T., Conley M.E., Cunningham-Rundles C., Etzioni A., Franco J.L., Gaspar H.B., Holland S.M., Klein C., Nonoyama S., Ochs H.D., Oksenhendler E., Picard C., Puck J.M., Sullivan K., Tang M.L. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Frontiers in Immunology, 2014, Vol. 5, p. 162.</mixed-citation><mixed-citation xml:lang="en">Al-Herz W., Bousfiha A., Casanova J.L., Chatila T., Conley M.E., Cunningham-Rundles C., Etzioni A., Franco J.L., Gaspar H.B., Holland S.M., Klein C., Nonoyama S., Ochs H.D., Oksenhendler E., Picard C., Puck J.M., Sullivan K., Tang M.L. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Frontiers in Immunology, 2014, Vol. 5, p. 162.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Al-Herz W., Bousfiha A., Casanova J.L. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Frontiers in Immunology, 2011, Vol. 2, p. 54.</mixed-citation><mixed-citation xml:lang="en">Al-Herz W., Bousfiha A., Casanova J.L. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Frontiers in Immunology, 2011, Vol. 2, p. 54.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Alt F.W., Oltz E.M., Young F., Gorman J., Taccioli G., Chen J. VDJ recombination. Immunology Today, 1992, Vol. 11, no. 8, pp. 306-214.</mixed-citation><mixed-citation xml:lang="en">Alt F.W., Oltz E.M., Young F., Gorman J., Taccioli G., Chen J. VDJ recombination. Immunology Today, 1992, Vol. 11, no. 8, pp. 306-214.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Amariglio N., Lev A., Simon A., Rosenthal E., Spirer Z., Efrati O., Broides A., Rechavi G., Somech R. Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency. Pediatric Research, 2010, Vol. 67, no. 2, pp. 211-216.</mixed-citation><mixed-citation xml:lang="en">Amariglio N., Lev A., Simon A., Rosenthal E., Spirer Z., Efrati O., Broides A., Rechavi G., Somech R. Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency. Pediatric Research, 2010, Vol. 67, no. 2, pp. 211-216.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Bakare N., Menschik D., Tiernan R., Hua W., Martin D. Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS). Vaccine, 2010, Vol. 28, no. 40, pp. 6609-6612.</mixed-citation><mixed-citation xml:lang="en">Bakare N., Menschik D., Tiernan R., Hua W., Martin D. Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS). Vaccine, 2010, Vol. 28, no. 40, pp. 6609-6612.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Blackwell T.K., Alt F.W. Mechanism and developmental program of immunoglobulin gene rearrangement in mammals. Annual Review of Genetics, 1989, Vol. 23, pp. 605-636.</mixed-citation><mixed-citation xml:lang="en">Blackwell T.K., Alt F.W. Mechanism and developmental program of immunoglobulin gene rearrangement in mammals. Annual Review of Genetics, 1989, Vol. 23, pp. 605-636.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Bolotin E., Annett G., Parkman R., Weinberg K. Serum levels of IL-7 in bone marrow transplant recipients: relationship to clinical characteristics and lymphocyte count. Bone Marrow Transplantation, 1999, Vol. 23, no. 8, pp. 783-788.</mixed-citation><mixed-citation xml:lang="en">Bolotin E., Annett G., Parkman R., Weinberg K. Serum levels of IL-7 in bone marrow transplant recipients: relationship to clinical characteristics and lymphocyte count. Bone Marrow Transplantation, 1999, Vol. 23, no. 8, pp. 783-788.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Borte S.,von Döbeln U.,Fasth A.,Wang N.,Janzi M.,Winiarski J.,Sack U.,Pan-Hammarström Q.,Borte M., Hammarström L. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood, 2012, Vol. 119, pp. 2552-2555.</mixed-citation><mixed-citation xml:lang="en">Borte S.,von Döbeln U.,Fasth A.,Wang N.,Janzi M.,Winiarski J.,Sack U.,Pan-Hammarström Q.,Borte M., Hammarström L. Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood, 2012, Vol. 119, pp. 2552-2555.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Borte S., Wang N., Oskarsdo S. Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Annals of the New York Academy of Sciences, 2011, Vol. 1246, pp. 118-130.</mixed-citation><mixed-citation xml:lang="en">Borte S., Wang N., Oskarsdo S. Newborn screening for primary immunodeficiencies: beyond SCID and XLA. Annals of the New York Academy of Sciences, 2011, Vol. 1246, pp. 118-130.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Brown L., Xu-Bayford J., Allwood Z., Slatter M., Cant A., Davies E.G., Veys P., Gennery A.R., Gaspar H.B. Neonatal diagnosis of severe and combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood, 2011, Vol. 117, pp. 3243-3246.</mixed-citation><mixed-citation xml:lang="en">Brown L., Xu-Bayford J., Allwood Z., Slatter M., Cant A., Davies E.G., Veys P., Gennery A.R., Gaspar H.B. Neonatal diagnosis of severe and combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood, 2011, Vol. 117, pp. 3243-3246.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Buckley R.H., Schiff R.I., Schiff S.E., Markert M.L., Williams L.W., Harville T.O., Roberts J.L., Puck J.M. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. Journal of Pediatrics, 1997, Vol. 130, no. 3, pp. 378-387.</mixed-citation><mixed-citation xml:lang="en">Buckley R.H., Schiff R.I., Schiff S.E., Markert M.L., Williams L.W., Harville T.O., Roberts J.L., Puck J.M. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. Journal of Pediatrics, 1997, Vol. 130, no. 3, pp. 378-387.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Buckley R.H. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunologic Research, 2011, Vol. 49, no. 1-3, pp. 25-43.</mixed-citation><mixed-citation xml:lang="en">Buckley R.H. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunologic Research, 2011, Vol. 49, no. 1-3, pp. 25-43.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science, 2007, Vol. 317, pp. 617-619.</mixed-citation><mixed-citation xml:lang="en">Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science, 2007, Vol. 317, pp. 617-619.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Centerwall W.R., Chinnock R.F., Pusavat A. Phenylketonuria: screening programs and testing methods. American Journal of Public Health, 1960, Vol. 50, no. 11, pp. 1667-1677.</mixed-citation><mixed-citation xml:lang="en">Centerwall W.R., Chinnock R.F., Pusavat A. Phenylketonuria: screening programs and testing methods. American Journal of Public Health, 1960, Vol. 50, no. 11, pp. 1667-1677.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. Journal of Allergy and Clinical Immunology, 2005, Vol. 115, pp. 391-398.</mixed-citation><mixed-citation xml:lang="en">Chan K., Puck J.M. Development of population-based newborn screening for severe combined immunodeficiency. Journal of Allergy and Clinical Immunology, 2005, Vol. 115, pp. 391-398.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Collier F., Tang M., Ponsonby A.L., Vuillermin P. Flow cytometric assessment of cord blood as an alternative strategy for population-based screening of severe combined immunodeficiency. Journal of Allergy and Clinical Immunology, 2013, Vol. 131, no. 4, pp. 1251-1252.</mixed-citation><mixed-citation xml:lang="en">Collier F., Tang M., Ponsonby A.L., Vuillermin P. Flow cytometric assessment of cord blood as an alternative strategy for population-based screening of severe combined immunodeficiency. Journal of Allergy and Clinical Immunology, 2013, Vol. 131, no. 4, pp. 1251-1252.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Conley M.E., Notarangelo L.D., Casanova J.L. Definition of primary immunodeficiency in 2011: a “trialogue” among friends. NY Acad. Sci., 2011, Vol. 1238, pp. 1-6.</mixed-citation><mixed-citation xml:lang="en">Conley M.E., Notarangelo L.D., Casanova J.L. Definition of primary immunodeficiency in 2011: a “trialogue” among friends. NY Acad. Sci., 2011, Vol. 1238, pp. 1-6.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Cornel M.C., Rigter T., Weinreich S.S., Burgard P., Hoffmann G.F. A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document. European Journal of Human Genetics, 2014, Vol. 22, no. 1, pp. 12-17.</mixed-citation><mixed-citation xml:lang="en">Cornel M.C., Rigter T., Weinreich S.S., Burgard P., Hoffmann G.F. A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document. European Journal of Human Genetics, 2014, Vol. 22, no. 1, pp. 12-17.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Douek D.C., McFarland R.D., Keiser P.H., Gage E.A., Massey J.M., Haynes B.F., Polis M.A., Haase A.T., Feinberg M.B., Sullivan J.L., Jamieson B.D., Zack J.A., Picker L.J., Koup R.A. Changes in thymic function with age and during the treatment of HIV infection. Nature, 1998, Vol. 17, no. 39, pp. 690-695.</mixed-citation><mixed-citation xml:lang="en">Douek D.C., McFarland R.D., Keiser P.H., Gage E.A., Massey J.M., Haynes B.F., Polis M.A., Haase A.T., Feinberg M.B., Sullivan J.L., Jamieson B.D., Zack J.A., Picker L.J., Koup R.A. Changes in thymic function with age and during the treatment of HIV infection. Nature, 1998, Vol. 17, no. 39, pp. 690-695.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Dvorak C.C., Cowan M.J., Logan B.R., Notarangelo L.D., Grifith L.M., Puck J.M., Kohn D.B., Shearer W.T., O’Reilly R.J., Fleisher T.A., Pai S.Y., Hanson I.C., Pulsipher M.A., Fuleihan R., Filipovich A., Goldman F., Kapoor N., Small T., Smith A., Chan K.W., Cuvelier G., Heimall J., Knutsen A., Loechelt B., Moore T., Buckley R.H. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. Journal of Clinical Immunology, 2013, Vol. 33, pp. 1156-1164.</mixed-citation><mixed-citation xml:lang="en">Dvorak C.C., Cowan M.J., Logan B.R., Notarangelo L.D., Grifith L.M., Puck J.M., Kohn D.B., Shearer W.T., O’Reilly R.J., Fleisher T.A., Pai S.Y., Hanson I.C., Pulsipher M.A., Fuleihan R., Filipovich A., Goldman F., Kapoor N., Small T., Smith A., Chan K.W., Cuvelier G., Heimall J., Knutsen A., Loechelt B., Moore T., Buckley R.H. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. Journal of Clinical Immunology, 2013, Vol. 33, pp. 1156-1164.</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Geha R.S., Notarangelo L.D., Casanova J.L., Chapel H., Conley M.E., Fischer A., Hammarström L., Nonoyama S., Ochs H.D., Puck J.M., Roifman C., Seger R., Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Journal of Allergy and Clinical Immunology, 2007, Vol. 120, pp. 776-794.</mixed-citation><mixed-citation xml:lang="en">Geha R.S., Notarangelo L.D., Casanova J.L., Chapel H., Conley M.E., Fischer A., Hammarström L., Nonoyama S., Ochs H.D., Puck J.M., Roifman C., Seger R., Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Journal of Allergy and Clinical Immunology, 2007, Vol. 120, pp. 776-794.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Harris R, Sawaya GF, Moyer VA, Calonge N. Reconsidering the criteria for evaluating proposed screening programs: reflections from 4 current and former members of the U.S. Preventive Services Task Force. Epidemiologic Reviews, 2011, Vol. 33, no. 1, pp. 20-35.</mixed-citation><mixed-citation xml:lang="en">Harris R, Sawaya GF, Moyer VA, Calonge N. Reconsidering the criteria for evaluating proposed screening programs: reflections from 4 current and former members of the U.S. Preventive Services Task Force. Epidemiologic Reviews, 2011, Vol. 33, no. 1, pp. 20-35.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Hirschhorn R. Adenosine deaminase deficiency. Immunodeficiency Reviews, 1990, Vol. 2, no. 3, pp. 175-198.</mixed-citation><mixed-citation xml:lang="en">Hirschhorn R. Adenosine deaminase deficiency. Immunodeficiency Reviews, 1990, Vol. 2, no. 3, pp. 175-198.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Janik D.K., Lindau-Shepard B., Comeau A.M., Pass K.A. A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease. Clinical Chemistry, 2010, Vol. 56, no. 9, pp. 1460-1465.</mixed-citation><mixed-citation xml:lang="en">Janik D.K., Lindau-Shepard B., Comeau A.M., Pass K.A. A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease. Clinical Chemistry, 2010, Vol. 56, no. 9, pp. 1460-1465.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Jilkina O., Thompson J.R., Kwan L., Van Caeseele P., Rockman-Greenberg C., Schroeder M.L. Retrospective TREC testing of newborns with severe combined immunodeficiency and other primary immunodeficiency diseases. Molecular Genetics and Metabolism Reports, 2014, Vol. 1, pp. 324-333.</mixed-citation><mixed-citation xml:lang="en">Jilkina O., Thompson J.R., Kwan L., Van Caeseele P., Rockman-Greenberg C., Schroeder M.L. Retrospective TREC testing of newborns with severe combined immunodeficiency and other primary immunodeficiency diseases. Molecular Genetics and Metabolism Reports, 2014, Vol. 1, pp. 324-333.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Jones J.F., Ritenbaugh C.K., Spence M.A., Hayward A. Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. Human Biology, 1991, Vol. 63, no. 5, pp. 669-682.</mixed-citation><mixed-citation xml:lang="en">Jones J.F., Ritenbaugh C.K., Spence M.A., Hayward A. Severe combined immunodeficiency among the Navajo. I. Characterization of phenotypes, epidemiology, and population genetics. Human Biology, 1991, Vol. 63, no. 5, pp. 669-682.</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Kalman L., Lindegren M.L., Kobrynski L., Vogt R., Hannon H., Howard J.T., Buckley R. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genetics in Medicine, 2004, Vol. 6, no. 1, pp. 16-26.</mixed-citation><mixed-citation xml:lang="en">Kalman L., Lindegren M.L., Kobrynski L., Vogt R., Hannon H., Howard J.T., Buckley R. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genetics in Medicine, 2004, Vol. 6, no. 1, pp. 16-26.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Kwan A., Abraham R.S., Currier R., Brower A., Andruszewski K., Abbott J.K., Baker M., Ballow M., Bartoshesky L.E., Bonilla F.A., Brokopp C., Brooks E., Caggana M., Celestin J., Church J.A., Comeau A.M., Connelly J.A., Cowan M.J., Cunningham-Rundles C., Dasu T., Dave N., De La Morena M.T., Duffner U., Fong C.T., Forbes L., Freedenberg D., Gelfand E.W., Hale J.E., Hanson I.C., Hay B.N., Hu D., Infante A., Johnson D., Kapoor N., Kay D.M., Kohn D.B., Lee R., Lehman H., Lin Z., Lorey F., Abdel-Mageed A., Manning A., McGhee S., Moore T.B., Naides S.J., Notarangelo L.D., Orange J.S., Pai S.Y., Porteus M., Rodriguez R., Romberg N., Routes J., Ruehle M., Rubenstein A., Saavedra-Matiz C.A., Scott G., Scott P.M., Secord E., Seroogy C., Shearer W.T., Siegel S., Silvers S.K., Stiehm E.R., Sugerman R.W., Sullivan J.L., Tanksley S., Tierce M.L. 4th, Verbsky J., Vogel B., Walker R., Walkovich K., Walter J.E., Wasserman R.L., Watson M.S., Weinberg G.A., Weiner L.B., Wood H., Yates A.B., Puck J.M., Bonagura V.R. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States. Journal of the American Medical Association, 2014, Vol. 312, no. 7, pp. 729-738.</mixed-citation><mixed-citation xml:lang="en">Kwan A., Abraham R.S., Currier R., Brower A., Andruszewski K., Abbott J.K., Baker M., Ballow M., Bartoshesky L.E., Bonilla F.A., Brokopp C., Brooks E., Caggana M., Celestin J., Church J.A., Comeau A.M., Connelly J.A., Cowan M.J., Cunningham-Rundles C., Dasu T., Dave N., De La Morena M.T., Duffner U., Fong C.T., Forbes L., Freedenberg D., Gelfand E.W., Hale J.E., Hanson I.C., Hay B.N., Hu D., Infante A., Johnson D., Kapoor N., Kay D.M., Kohn D.B., Lee R., Lehman H., Lin Z., Lorey F., Abdel-Mageed A., Manning A., McGhee S., Moore T.B., Naides S.J., Notarangelo L.D., Orange J.S., Pai S.Y., Porteus M., Rodriguez R., Romberg N., Routes J., Ruehle M., Rubenstein A., Saavedra-Matiz C.A., Scott G., Scott P.M., Secord E., Seroogy C., Shearer W.T., Siegel S., Silvers S.K., Stiehm E.R., Sugerman R.W., Sullivan J.L., Tanksley S., Tierce M.L. 4th, Verbsky J., Vogel B., Walker R., Walkovich K., Walter J.E., Wasserman R.L., Watson M.S., Weinberg G.A., Weiner L.B., Wood H., Yates A.B., Puck J.M., Bonagura V.R. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States. Journal of the American Medical Association, 2014, Vol. 312, no. 7, pp. 729-738.</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Lebet T., Chiles R., Hsu A.P., Mansfield E.S., Warrington J.A., Puck J.M. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genetics in Medicine, 2008, Vol. 10, no. 8, pp. 575-585.</mixed-citation><mixed-citation xml:lang="en">Lebet T., Chiles R., Hsu A.P., Mansfield E.S., Warrington J.A., Puck J.M. Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. Genetics in Medicine, 2008, Vol. 10, no. 8, pp. 575-585.</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">McGhee S.A., Stiehm E.R., Cowan M., Krogstad P., McCabe E.R. Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Molecular Genetetics and Metabolism, 2005, Vol. 86, no. 4, pp. 427-430.</mixed-citation><mixed-citation xml:lang="en">McGhee S.A., Stiehm E.R., Cowan M., Krogstad P., McCabe E.R. Two-tiered universal newborn screening strategy for severe combined immunodeficiency. Molecular Genetetics and Metabolism, 2005, Vol. 86, no. 4, pp. 427-430.</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Meeths M., Chiang S.C., Wood S.M., Entesarian M., Schlums H., Bang B., Nordenskjöld E., Björklund C., Jakovljevic G., Jazbec J., Hasle H., Holmqvist B.M., Rajic L., Pfeifer S., Rosthøj S., Sabel M., Salmi T.T., Stokland T., Winiarski J., Ljunggren H.G., Fadeel B., Nordenskjöld M., Henter J.I., Bryceson Y.T. Familial hemophagocytic lympho- and histiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood, 2011, Vol. 118, pp. 5783-5793.</mixed-citation><mixed-citation xml:lang="en">Meeths M., Chiang S.C., Wood S.M., Entesarian M., Schlums H., Bang B., Nordenskjöld E., Björklund C., Jakovljevic G., Jazbec J., Hasle H., Holmqvist B.M., Rajic L., Pfeifer S., Rosthøj S., Sabel M., Salmi T.T., Stokland T., Winiarski J., Ljunggren H.G., Fadeel B., Nordenskjöld M., Henter J.I., Bryceson Y.T. Familial hemophagocytic lympho- and histiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood, 2011, Vol. 118, pp. 5783-5793.</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">Moore E.C., Meuwissen H.J. Screening for ADA deficiency. Journal of Pediatrics, 1974, Vol. 85, no. 6, pp. 802-804.</mixed-citation><mixed-citation xml:lang="en">Moore E.C., Meuwissen H.J. Screening for ADA deficiency. Journal of Pediatrics, 1974, Vol. 85, no. 6, pp. 802-804.</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">Morton D.H, Morton C.S., Strauss K.A., Robinson D.L., Puffenberger E.G., Hendrickson C., Kelley R.I. Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. American Journal of Medical Genetics, 2003, Vol. 121C, no. 1, pp. 5-17.</mixed-citation><mixed-citation xml:lang="en">Morton D.H, Morton C.S., Strauss K.A., Robinson D.L., Puffenberger E.G., Hendrickson C., Kelley R.I. Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. American Journal of Medical Genetics, 2003, Vol. 121C, no. 1, pp. 5-17.</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Notarangelo L.D., Casanova J.L. Primary immunodeficiencies: increasing market share. Curr. Opin. Immunol., 2009, Vol. 21, pp. 461-465.</mixed-citation><mixed-citation xml:lang="en">Notarangelo L.D., Casanova J.L. Primary immunodeficiencies: increasing market share. Curr. Opin. Immunol., 2009, Vol. 21, pp. 461-465.</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Notarangelo, Luigi D. Primary immunodeficiencies. Journal of Allergy and Clinical Immunology, Vol. 125, no. 2, pp. S182-S194.</mixed-citation><mixed-citation xml:lang="en">Notarangelo, Luigi D. Primary immunodeficiencies. Journal of Allergy and Clinical Immunology, Vol. 125, no. 2, pp. S182-S194.</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Ochs H.D., Smith C.I.E., Puck J.M. Primary immunodeficiency diseases: a molecular and cellular approach. 2nd ed. New York: Oxford University Press, 2007.</mixed-citation><mixed-citation xml:lang="en">Ochs H.D., Smith C.I.E., Puck J.M. Primary immunodeficiency diseases: a molecular and cellular approach. 2nd ed. New York: Oxford University Press, 2007.</mixed-citation></citation-alternatives></ref><ref id="cit40"><label>40</label><citation-alternatives><mixed-citation xml:lang="ru">Pai S.Y., Logan B.R., Grifith L.M., Buckley R.H., Parrott R.E., Dvorak C.C., Kapoor N., Hanson I.C., Filipovich A.H., Jyonouchi S., Sullivan K.E., Small T.N., Burroughs L., Skoda-Smith S., Haight A.E., Grizzle A., Pulsipher M.A., Chan K.W., Fuleihan R.L., Haddad E., Loechelt B., Aquino V.M., Gillio A., Davis J., Knutsen A., Smith A.R., Moore T.B., Schroeder M.L., Goldman F.D., Connelly J.A., Porteus M.H., Xiang Q., Shearer W.T., Fleisher T.A., Kohn D.B., Puck J.M., Notarangelo L.D., Cowan M.J., O’Reilly R.J. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. New England Journal of Medicine, 2014, Vol. 371, pp. 434-446.</mixed-citation><mixed-citation xml:lang="en">Pai S.Y., Logan B.R., Grifith L.M., Buckley R.H., Parrott R.E., Dvorak C.C., Kapoor N., Hanson I.C., Filipovich A.H., Jyonouchi S., Sullivan K.E., Small T.N., Burroughs L., Skoda-Smith S., Haight A.E., Grizzle A., Pulsipher M.A., Chan K.W., Fuleihan R.L., Haddad E., Loechelt B., Aquino V.M., Gillio A., Davis J., Knutsen A., Smith A.R., Moore T.B., Schroeder M.L., Goldman F.D., Connelly J.A., Porteus M.H., Xiang Q., Shearer W.T., Fleisher T.A., Kohn D.B., Puck J.M., Notarangelo L.D., Cowan M.J., O’Reilly R.J. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. New England Journal of Medicine, 2014, Vol. 371, pp. 434-446.</mixed-citation></citation-alternatives></ref><ref id="cit41"><label>41</label><citation-alternatives><mixed-citation xml:lang="ru">Parvaneh N., Casanova J.L., Notarangelo L.D., Conley M.E. Primary immunodeficiencies: a rapidly evolving story. J. Allergy Clin. Immunol., 2013, Vol. 131, no. 2, pp. 314-323.</mixed-citation><mixed-citation xml:lang="en">Parvaneh N., Casanova J.L., Notarangelo L.D., Conley M.E. Primary immunodeficiencies: a rapidly evolving story. J. Allergy Clin. Immunol., 2013, Vol. 131, no. 2, pp. 314-323.</mixed-citation></citation-alternatives></ref><ref id="cit42"><label>42</label><citation-alternatives><mixed-citation xml:lang="ru">Picard C., Al-Herz W., Bousfiha A., Casanova J.-L., Chatila T., Conley M.E., Cunningham-Rundles C., Etzioni A., Holland S.M., Klein C., Nonoyama S., Ochs H.D., Oksenhendler E., Puck J.M., Sullivan K.E., Tang M.L.K., Franco J.L., Gaspar H.B. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. Journal of Clinical Immunology, 2015, Vol. 35, no. 8, pp. 696-726.</mixed-citation><mixed-citation xml:lang="en">Picard C., Al-Herz W., Bousfiha A., Casanova J.-L., Chatila T., Conley M.E., Cunningham-Rundles C., Etzioni A., Holland S.M., Klein C., Nonoyama S., Ochs H.D., Oksenhendler E., Puck J.M., Sullivan K.E., Tang M.L.K., Franco J.L., Gaspar H.B. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. Journal of Clinical Immunology, 2015, Vol. 35, no. 8, pp. 696-726.</mixed-citation></citation-alternatives></ref><ref id="cit43"><label>43</label><citation-alternatives><mixed-citation xml:lang="ru">Puck J.M. SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunode ciency: steps toward implementation. Journal of Allergy and Clinical Immunology, 2007, Vol. 120, no. 4, pp. 760-768.</mixed-citation><mixed-citation xml:lang="en">Puck J.M. SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunode ciency: steps toward implementation. Journal of Allergy and Clinical Immunology, 2007, Vol. 120, no. 4, pp. 760-768.</mixed-citation></citation-alternatives></ref><ref id="cit44"><label>44</label><citation-alternatives><mixed-citation xml:lang="ru">Puck J.M. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. Journal of Allergy and Clinical Immunology, 2012, Vol. 129, no. 3, pp. 607-616.</mixed-citation><mixed-citation xml:lang="en">Puck J.M. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. Journal of Allergy and Clinical Immunology, 2012, Vol. 129, no. 3, pp. 607-616.</mixed-citation></citation-alternatives></ref><ref id="cit45"><label>45</label><citation-alternatives><mixed-citation xml:lang="ru">Roifman C.M., Somech R., Grunebaum E. Matched unrelated bone marrow transplant for T+ combined immunodeficiency. Bone Marrow Transplantation, 2008, Vol. 41, pp. 947-952.</mixed-citation><mixed-citation xml:lang="en">Roifman C.M., Somech R., Grunebaum E. Matched unrelated bone marrow transplant for T+ combined immunodeficiency. Bone Marrow Transplantation, 2008, Vol. 41, pp. 947-952.</mixed-citation></citation-alternatives></ref><ref id="cit46"><label>46</label><citation-alternatives><mixed-citation xml:lang="ru">Sanchez J.J., Monaghan G., Børsting C., Norbury G., Morling N., Gaspar H.B. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. Annals of Human Genetics, 2007, Vol. 71, no. 3, pp. 336-347.</mixed-citation><mixed-citation xml:lang="en">Sanchez J.J., Monaghan G., Børsting C., Norbury G., Morling N., Gaspar H.B. Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. Annals of Human Genetics, 2007, Vol. 71, no. 3, pp. 336-347.</mixed-citation></citation-alternatives></ref><ref id="cit47"><label>47</label><citation-alternatives><mixed-citation xml:lang="ru">Serana F., Chiarini M., Zanotti C., Sottini A., Bertoli D., Bosio A., Caimi L., Imberti L. Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies. Journal of Translation Medicine, 2013, Vol. 11, p. 119.</mixed-citation><mixed-citation xml:lang="en">Serana F., Chiarini M., Zanotti C., Sottini A., Bertoli D., Bosio A., Caimi L., Imberti L. Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies. Journal of Translation Medicine, 2013, Vol. 11, p. 119.</mixed-citation></citation-alternatives></ref><ref id="cit48"><label>48</label><citation-alternatives><mixed-citation xml:lang="ru">Stephan J.L., Vlekova V., Le Deist F., Blanche S., Donadieu J., De Saint-Basile G., Durandy A., Griscelli C., Fischer A. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. Journal of Pediatrics, 1993, Vol. 123, no. 4, pp. 564-572.</mixed-citation><mixed-citation xml:lang="en">Stephan J.L., Vlekova V., Le Deist F., Blanche S., Donadieu J., De Saint-Basile G., Durandy A., Griscelli C., Fischer A. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. Journal of Pediatrics, 1993, Vol. 123, no. 4, pp. 564-572.</mixed-citation></citation-alternatives></ref><ref id="cit49"><label>49</label><citation-alternatives><mixed-citation xml:lang="ru">Tonegawa S. Somatic generation of antibody diversity. Nature, 1983, Vol. 302, pp. 575-581.</mixed-citation><mixed-citation xml:lang="en">Tonegawa S. Somatic generation of antibody diversity. Nature, 1983, Vol. 302, pp. 575-581.</mixed-citation></citation-alternatives></ref><ref id="cit50"><label>50</label><citation-alternatives><mixed-citation xml:lang="ru">van der Burg M., Gennery A.R. The expanding clinical and immunological spectrum of severe combined immunodeficiency. European Journal of Pediatrics, 2011, Vol. 170, no. 5, pp. 561-571.</mixed-citation><mixed-citation xml:lang="en">van der Burg M., Gennery A.R. The expanding clinical and immunological spectrum of severe combined immunodeficiency. European Journal of Pediatrics, 2011, Vol. 170, no. 5, pp. 561-571.</mixed-citation></citation-alternatives></ref><ref id="cit51"><label>51</label><citation-alternatives><mixed-citation xml:lang="ru">van der Burg M., Tümkaya T., Boerma M., de Bruin-Versteeg S., Langerak A.W., van Dongen J.J. Ordered recombination of immunoglobulin light chain genes occurs at the IGK locus but seems less strict at the IGL locus. Blood, 2001, Vol. 97, pp. 1001-1008.</mixed-citation><mixed-citation xml:lang="en">van der Burg M., Tümkaya T., Boerma M., de Bruin-Versteeg S., Langerak A.W., van Dongen J.J. Ordered recombination of immunoglobulin light chain genes occurs at the IGK locus but seems less strict at the IGL locus. Blood, 2001, Vol. 97, pp. 1001-1008.</mixed-citation></citation-alternatives></ref><ref id="cit52"><label>52</label><citation-alternatives><mixed-citation xml:lang="ru">van Zelm M.C., Szczepanski T., van der Burg M., van Dongen J.J. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. Journal of Experimental Medicine, 2007, Vol. 204, pp. 645-655.</mixed-citation><mixed-citation xml:lang="en">van Zelm M.C., Szczepanski T., van der Burg M., van Dongen J.J. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. Journal of Experimental Medicine, 2007, Vol. 204, pp. 645-655.</mixed-citation></citation-alternatives></ref><ref id="cit53"><label>53</label><citation-alternatives><mixed-citation xml:lang="ru">Wilson J.M., Jungner Y.G. Principles and practice of mass screening for disease. Boletin de la Oficina Sanitaria Panamericana, 1968, Vol. 65, no. 4, pp. 281-393.</mixed-citation><mixed-citation xml:lang="en">Wilson J.M., Jungner Y.G. Principles and practice of mass screening for disease. Boletin de la Oficina Sanitaria Panamericana, 1968, Vol. 65, no. 4, pp. 281-393.</mixed-citation></citation-alternatives></ref><ref id="cit54"><label>54</label><citation-alternatives><mixed-citation xml:lang="ru">Yao C.M., Han X.H., Zhang Y.D., Zhang H., Jin Y.Y., Cao R.M., Wang X., Liu Q.H., Zhao W., Chen T.X. Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). Journal of Clinical Immunology, 2013, Vol. 33, pp. 526-539</mixed-citation><mixed-citation xml:lang="en">Yao C.M., Han X.H., Zhang Y.D., Zhang H., Jin Y.Y., Cao R.M., Wang X., Liu Q.H., Zhao W., Chen T.X. Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). Journal of Clinical Immunology, 2013, Vol. 33, pp. 526-539</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
