PATIENT-CENTRED SCREENING FOR PRIMARY IMMUNODEFICIENCY, A MULTI-STAGE DIAGNOSTIC PROTOCOL DESIGNED FOR NONIMMUNOLOGISTS: 2011 UPDATE
https://doi.org/10.15789/1563-0625-2013-5-477-492
Abstract
About the Authors
E. de VriesNetherlands
Department of Paediatrics
A. A. Cardona
Mexico
Primary Immunodeficiency Investigation Unit
A. H. Abdul Latiff
Malaysia
R. Badolato
Italy
N. Brodszki
Sweden
Department of Paediatric Immunology
A. J. Cant
United Kingdom
J. Carbone
Spain
J. T. Casper
United States
Department of Paediatrics, Immunology/BMT
A. Ciznar
Slovakia
1st Paediatric Department
A. V. Cochino
Romania
Department of Paediatrics
B. Derfalvi
Hungary
2nd Department of Paediatrics, Immunology–Rheumatology–Nephrology Unit
G. J. Driessen
Netherlands
Department of Paediatric Infectious Disease and Immunology
R. Elfeky
Egypt
Department of Pediatrics
D. El-Ghoneimy
Russian Federation
Department of Paediatric Allergy & Immunology, Faculty of Medicine
T. Espanol
Spain
Immunology Unit
A. Etzioni
Israel
E. Gambineri
Italy
Department of Sciences for Woman and Child’s Health
K. Gilmour
United Kingdom
Camelia Botnar Laboratories
L. I. Gonzalez-Granado
Spain
Immunodeficiencies Unit, Department of Paediatrics
M. N. Guseva
Russian Federation
Consulting Center
M. H. Haverkamp
Netherlands
Department of Infectious Diseases
M. Helminen
Finland
Department of Paediatric Infectious Diseases
M. Honig
Germany
Department of Paediatrics
M. G. Kanariou
Greece
M. Kirschfink
Germany
C. Klein
Germany
T. W. Kuijpers
Netherlands
Division of Paediatric Hematology, Immunology and Infectious diseases
N. Kutukculer
Turkey
Department of Pediatrics, Division of Pediatric Immunology
B. Martire
Italy
Dipartimento di Biomedicina dell’Eta Evolutiva
I. Meyts
Belgium
Department of Paediatrics
T. Niehues
Germany
C. Pignata
Italy
Department of Paediatrics
S. M. Reda
Egypt
Department of Paediatric Allergy and Immunology, Faculty of Medicine
E. D. Renner
Germany
N. Rezaei
Islamic Republic of Iran
Molecular Immunology Research Centre and Research Group for Immunodeficiencies
M. Rizzi
Germany
Center for Chronic Immunodeficiency
M. A. Sampalo Lainz
Spain
Department of Immunology
R. B. Sargur
United Kingdom
Department of Immunology
A. Sediva
Czech Republic
M. G. Seidel
Austria
Paediatric Immunology Outpatient Clinic
S. L. Seneviratne
United Kingdom
Department of Clinical Immunology
P. Soler-Palacin
Spain
Pediatric Infectious Diseases and Immunodeficiencies Unit
A. Tommasini
Italy
Laboratory of Immunopathology
K. Warnatz
Germany
Centre of Chronic Immunodeficiency
References
1. De Vries E., Clinical Working Party of the European Society for Immunodeficiencies (ESID). Patientcentred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin. Exp. Immunol., 2006, vol. 145, pp. 204-214.
2. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo L.D., Fischer A., Geha R.S. et al. Primary immunodeficiencies: 2009 update. J. Allergy Clin. Immunol., 2009, vol. 124, pp. 1161-1178.
3. Samarghitean C., Ortutay C., Vihinen M. Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters. J. Immunol., 2009, vol. 183, pp. 7569-7575.
4. Ballow M. Approach to the patient with recurrent infections. Clin. Rev. Allergy Immunol., 2008, vol. 34, pp. 129-140.
5. Azar A.E., Ballas Z.K. Evaluation of the adult with suspected immunodeficiency. Am. J. Med., 2007, vol. 120, pp. 764-768.
6. Wood P. UK Primary Immunodeficiency Network. Primary antibody deficiencies: recognition, clinical diagnosis and referral of patients. Clin. Med., 2009, vol. 9, pp. 595-599.
7. Oliveira J.B., Fleisher T.A. Laboratory evaluation of primary immunodeficiencies. J. Allergy Clin. Immunol., 2010, vol. 125 (suppl. 2), pp. S297-305.
8. Roxo Junior P. Primary immunodeficiency diseases: relevant aspects for pulmonologists. J. Bras. Pneumol., 2009, vol. 35, pp. 1008-1017.
9. Samarghitean C., Vihinen M. Bioinformatics services related to diagnosis of primary immunodeficiencies. Curr. Opin. Allergy Clin. Immunol., 2009, vol. 9, pp. 531-536.
10. Johnston S.L. Clinical immunology review series: an approach to the patient with recurrent superficial abscesses. Clin Exp Immunol., 2008, vol. 152, pp. 397-405.
11. Fleisher T.A. Evaluation of suspected immunodeficiency. Adv. Exp. Med. Biol., 2007, vol. 601, pp. 291-300.
12. Slatter M.A., Gennery A.R. Clinical immunology review series: an approach to the patient with recurrent infections in childhood. Clin. Exp. Immunol., 2008, vol. 152, pp. 389-396.
13. Cassimos D.C., Liatsis M., Stogiannidou A., Kanariou M.G. Children with frequent infections: a proposal for a stepwise assessment and investigation of the immune system. Pediatr Allergy Immunol., 2010, vol. 21, pp. 463-473.
14. Casanova J.L., Abel L. Primary immunodeficiencies: a field in its infancy. Science, 2007, vol. 317, pp. 617-619.
15. Fischer A. Human primary immunodeficiency diseases. Immunity, 2007, vol. 27, pp. 835-845.
16. Boyle J.M., Buckley R.H. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J. Clin. Immunol., 2007, vol. 27, pp. 497-502.
17. Rosen F.S. Severe combined immunodeficiency: a pediatric emergency. J. Pediatr, 1997, vol. 130, pp. 345-346.
18. Lucas M., Lee M., Lortan J., Lopez-Granados E., Misbah S., Chapel H. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J. Allergy Clin. Immunol., 2010, vol. 125, pp. 1354-1360.
19. Fried A.J., Bonilla F.A. Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin. Microbiol .Rev., 2009, vol. 22, pp. 396-414.
20. Wood P.M. Primary antibody deficiency syndromes. Curr. Opin. Hematol., 2010, vol. 17, pp. 356-361.
21. Stiehm E.R., Chin T.W., Haas A., Peerless A.G. Infectious complications of the primary immunodeficiencies. Clin. Immunol. Immunopathol., 1986, vol. 40, pp. 69-86.
22. Nelson K.S., Lewis D.B. Adult-onset presentations of genetic immunodeficiencies: genes can throw slow curves. Curr. Opin. Infect. Dis., 2010, vol. 23, pp. 359-364.
23. Kanariou M., Petridou E., Liatsis M., Revinthi K., Mandalenaki-Lambrou K., Trichopoulos D. Age patterns of immunoglobulins G, A & M in healthy children and the influence of breast feeding and vaccination status. Pediatr Allergy Immunol., 1995, vol. 6, pp. 24-29.
24. Comans-Bitter W.M., de Groot R., van den Beemd R et al. Immu-nophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J. Pediatr 1997, vol. 30, pp. 388-393.
25. Huck K., Feyen O., Ghosh S., Beltz K., Bellert S., Niehues T. Memory B-cells in healthy and antibodydeficient children. Clin. Immunol., 2009, vol. 131, pp. 50-59.
26. Ming J.E., Stiehm E.R., Graham J.M.Jr. Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities. Crit. Rev. Clin. Lab. Sci., 2003, vol. 40, pp. 587-642.
Review
For citations:
de Vries E., Cardona A.A., Abdul Latiff A.H., Badolato R., Brodszki N., Cant A.J., Carbone J., Casper J.T., Ciznar A., Cochino A.V., Derfalvi B., Driessen G.J., Elfeky R., El-Ghoneimy D., Espanol T., Etzioni A., Gambineri E., Gilmour K., Gonzalez-Granado L.I., Guseva M.N., Haverkamp M.H., Helminen M., Honig M., Kanariou M.G., Kirschfink M., Klein C., Kuijpers T.W., Kutukculer N., Martire B., Meyts I., Niehues T., Pignata C., Reda S.M., Renner E.D., Rezaei N., Rizzi M., Sampalo Lainz M.A., Sargur R.B., Sediva A., Seidel M.G., Seneviratne S.L., Soler-Palacin P., Tommasini A., Warnatz K. PATIENT-CENTRED SCREENING FOR PRIMARY IMMUNODEFICIENCY, A MULTI-STAGE DIAGNOSTIC PROTOCOL DESIGNED FOR NONIMMUNOLOGISTS: 2011 UPDATE. Medical Immunology (Russia). 2013;15(5):477-492. (In Russ.) https://doi.org/10.15789/1563-0625-2013-5-477-492