ANALYSIS OF INITIAL CLINICAL FEATURES OF PRIMARY IMMUNODEFICIENCIES IN ADULTS
https://doi.org/10.15789/1563-0625-2014-4-367-374
Abstract
At present, we are observing eighty-three adult patients with various primary immunodeficiencies (PID) of different origin. The aim of our study was to identify the optimal ways for early detection of such disorders. In this work, we present an analysis of initial clinical manifestations of PID in adults. It was revealed that the type of clinical manifestations is quite unique for individual cases. And the patients exhibit quite diverse clinical findings and course of the disorder, even within a single nosological entity. However, infectious syndrome prevailed among others manifestations. Combinations of complex clinical syndromes were not typical to initial PID pattern. We observed polytopic lesions within each single immunopathological syndrome.
About the Authors
I. A. TuzankinaRussian Federation
PhD, MD (Medicine), Main Research Associate, Institute of Clinical Immunology and Physiology, Ural Branch, Russian Academy of Sciences, Chief, Regional Center of Clinical Immunology, Chief immunologist (Sverdlovsk Region)
M. L. Karakina
Russian Federation
PhD (Medicine), Research Associate, Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences, Clinical Immunologist, Regional Children Clinical Hospital № 1 and Regional Clinical Hospital № 1
E. V. Vlasova
Russian Federation
PhD (Medicine), Head, Consultation Service in Clinical Immunology, Regional Children Clinical Hospital № 1
References
1. Иммунные механизмы патологии у детей / Тузанкина И.А., Черешнев В.А., Мальчиков И.А., Истомина Е.Л., Болков М.А. – Екатеринбург: НИСО УрО РАН, 2013. 206 с. [Immunnye mekhanizmy patologii u detey / Tuzankina I.A., Chereshnev V.A.,Malchikov I.A., Istomina E.N., Bolkov M.A. [Immune mechanisms of pathology at Children]. Ekaterinburg, Ural branch of Russian academy of sciences, 2013. 206 p.]
2. Каракина М.Л., Тузанкина И.А., Бельтюков Е.К. Проблемы оказания медицинской помощи пациентам с орфанными заболеваниями в Свердловской области на примере первичных иммунодефицитов // Вестник уральской медицинской академической науки. – 2013. – № 4. – С. 10-13. [Karakina M.L., Tuzankina I.A., Beltukov E.K. Problemy okazaniya meditsinskoy pomoshchi patsientam s orfannymi zabolevaniyami v Sverdlovskoy oblasti na primere pervichnykh immunodefitsitov [The problems of health care of patients with orphan diseases in the Sverdlovsk region on the example of primary immunodeficiencies]. Vestnik ural`skoy meditsinskoy akademicheskoy nauki = Bulletin of the Ural Medical Academic Science, 2013, no. 4, pp. 10-13.]
3. Кондратенко И.В., Бологов А.А. Первичные иммунодефициты. – М.: Медпрактика-М, 2005. – 232 с. [Kondratenko I.V., Bologov A.A. Pervichnye immunodefitsity [Primary immunodeficiencies]. Moscow, Medpractica, 2005. 232 p.]
4. Тузанкина И.А., Синявская О.А., Шершнев В.Н. Иммунопатологические состояния в педиатрической практике. – Екатеринбург, 1998. – 135 с. [Tuzankina I.A., Siniavskaya O.A., Shershnev V.N. Immunopatologicheskie sostoyaniya v pediatricheskoy praktike [Immunological conditions in pediatric practice]. Ekaterinburg, 1998. 135 p.]
5. Тузанкина И.А. К вопросу диагностики иммунопатологии // Медицинская иммунология. – 2010. – Т. 12, № 6. – С. 485-496. [Touzankina I.A. K voprosu diagnostiki immunopatologii [Some issues of diagnostics in immune pathology]. Meditsinskaya immunologiya = Medical Immunology, 2010, vol. 12, no. 6, pp. 485-496.]
6. Тузанкина И.А., Власова Е.В. Проект медико-экономических стандартов ведения больных с иммунодефицитами // Медицинская иммунология. – 2013. – Т. 15, № 1. – С. 61-97. [Tuzankina I.A., Vlasova E.V. Proekt mediko-ekonomicheskikh standartov vedeniya bol`nykh s immunodefitsitami [Draft of medico-economic standards of maintaining patients with immunodeficiencies]. Meditsinskaya immunologiya = Medical Immunology, 2013, vol. 15, no. 1, pp. 61-97.]
7. Bousfiha A.A. , Jeddane L., Ailal F., Al- Herz W., Conley M.E., Cunningham-Rundles C., Etzioni A., Fischer A., Franco J.L., Geha R.S., Hammarström L., Nonoyama S., Ochs H.D., Roifman C.M., Seger R., Tang M.L.K., Notarangelo L.D., Casanova J.L. A phenotypic approach for iuis pid classification and diagnosis: guidelines for clinicians at the bedside. J. Clin. Immunol., 2013, vol. 33, pp. 1078-1087.
8. Hurst J.R., Workman S., Garcha D.S., Seneviratne S.L., Haddock J.A., Grimbacher B. Activity, severity and impact of respiratory disease in primary antibody deficiency syndromes. J. Clin. Immunol., 2013, vol. 10, pp. 643-695.
9. Agarwal S., Cunningham-Rundles C. Treatment of hypogammaglobulinemia in adults: a scoring system to guide decisions on immunoglobulin replacement. Journal of Allergy and Clinical Immunology, 2013, vol. 131, no. 6, pp. 1699-1701.
10. Al-Herz W., Notarangelo D.L. Classification of primary immunodeficiency disorders: One-fits-all does not help anymore. Clinical Immunology, 2012, vol. 144, pp. 24-25.
11. Al-Herz W., Moussa M.A. Survival and predictors of death among primary immunodeficient patients: a registry-based study. J. Clin. Immunol., 2012, vol. 32, pp. 467-473.
12. Ballow М. Historical Perspectives in the Diagnosis and Treatment of Primary Immune Deficiencies. Clinic. Rev. Allerg. Immunol., 2013, vol. 7, pp. 632-636.
13. Baradaran A., Lange J., Asakura Y., Cochat P., Massella L., Boerkoel C.F. Bone marrow transplantation in Schimke immuno-osseous dysplasia. American Journal of Medical Genetics, 2013, vol. 161, no. 10, pp. 2609-2622.
14. Bruton O.C. Agammaglobulinemia. Pediatrics, 1952, vol. 9, no. 6, pp. 722-728.
15. Gelfand E.W., Ochs H.D., Shearer W.T. Controversies in IgG replacement therapy in patients with antibody deficiency diseases. Journal of Allergy and Clinical Immunology, 2009, vol. 131, no. 4, pp. 1001-1006.
16. Tuzankina I., Kobeleva Y., Kiseleva N., Bolkov M., Reuter G., and Maródi L. Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodeneretative disease. European Journal of Allergy and Clinical Immunology, 2011, DOI: 10.1111/j.1398-9995.2011.02718.x
17. Modell V., Gee B., Lewis D.B., Orange J.S., Roifman C.M., Routes J.M., Sorensen R.U., Notarangelo L.D., Modell F. Global study of primary immunodeficiency diseases (PI) – diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol. Res., 2011, vol. 51, no. 1, pp. 61-70.
18. Morinishi Y., Imai K., Nakagawa N., Sato H., Horiuchi K., Nonoyama S. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal Guthri cards. J. Pediatr., 2009, vol. 155, no. 6, pp. 829-861.
19. Jacob С., Pastorino A., Fahl K., Carneiro-Sampaio M., Monteiro R. Autoimmunity in IgA Deficiency: revisiting the role of IgA as a silent housekeeper. Journal of Clinical Immunology, 2008, vol. 28, suppl 1, pp. 56-61.
20. Liadaki K., Sun J., Hammarstrom L., Pan-Hammarstrom Q. New facets of antibody deficiencie. Current Opinion in Immunology, 2013, vol. 25, pp. 25-35.
21. Al-Herz W., Bousfiha A., Casanova J.L., Chapel H., Conley M.E., Cunningham-Rundles C., Etzioni A., Fischer A., Franco J.L., Geha R.S. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front. Immunol., 2011, vol. 2, pp. 1-26.
22. Viktorova E.A., Kuzmenko N.B., Tuzankina I.A., Vlasova E.V., Kovalev G.I., Maschand A.A., Shcherbina A. Rare case of Kimura’s disease in Wiskott-Aldrich syndrome patient. Journal of Clinical Immunology, 2012, vol. 32, suppl 1, p. 188.
23. The Berlin Declaration / Jeffrey Modell Centers Summit, July 17-20, 2013, pp. 14.
24. Horv th Z., Rezaei N., Reisli I., Tuzankina I., Otarbayev N., Popandopulo P., Mar di L. The Spread of the J Project. Journal of Clinical Immunology, 2013, vol. 33, pp. 1037-1042.
25. Verbsky J.W., Grossman W.P. Cellular and genetic basis of primary immune deficiencies. Pediatr. Clin. North Am., 2006, vol. 53, pp. 649-684.
26. Warnatz K., Goldacker S. Common variable immunodeficiency: a clinical challenge. Zeitschrift f r Rheumatologie, 2013., vol. 72. no 7, pp. 653-662.
27. URL: http://www.esid.org
28. URL: http://www.info4pi
Review
For citations:
Tuzankina I.A., Karakina M.L., Vlasova E.V. ANALYSIS OF INITIAL CLINICAL FEATURES OF PRIMARY IMMUNODEFICIENCIES IN ADULTS. Medical Immunology (Russia). 2014;16(4):367-374. (In Russ.) https://doi.org/10.15789/1563-0625-2014-4-367-374