Mehmet ASLAN, Erdem TOPAL, Mehmet Yavuz ÖZBEY

Epidemiological and clinical features of patients with primary antibody deficiency disorders in the East of Turkey

Aim: To describe the demographic and clinical features of patients diagnosed with primary antibody deficiencyMaterial and Methods: The medical records of pediatric patients who were diagnosed with primary antibody deficiency were reviewed. Patients were diagnosed with primary antibody deficiency based on the European Society for Immunodeficiencies diagnostic criteria.Result: A total of 60 patients with primary antibody deficiency were identified; 39 patients (65%) were male and median age was 5 (1-18) years of age, while median diagnosis age was 3 (6 mo-14 yr) years. Twenty-one patients (35%) were diagnosed with transient hypogammaglobulinemia of infancy, thirteen (21.7%) with selective Ig A deficiency, five (8.3%) with congenital agammaglobulinemia, five (8.3%) with selective Ig M deficiency, five (8.3%) with unclassified hypogammaglobulinemia, four (6.7%) with Ig G subclass deficiency, two (3.3%) with severe combined immune deficiency, two (3.3%) with common variable immunodeficiency, two (3.3%) with hyper Ig M syndrome, and one patient was diagnosed with pneumococcal vaccine responsiveness, respectively. Eleven patients (18.3%) had consanguinity and six patients (10%) had family history. The most common complaint was frequent respiratory tract infections. Four patients had dermatitis in addition to infection. Three patients had hematopoietic stem cell transplantation and 23 patients (38.3%) received intravenous immunoglobulin treatment. Two patients died during the follow up.Conclusion: Our results indicated that diagnosis is delayed and the patients who are diagnosed with primary antibody deficiency frequently have respiratory tract infections.

PDF

___

1. Primary immunodeficiency diseases. Report of an IUIS Scientific Committee. International Union of Immunological Societies. Clin Exp Immunol 1999;118:1-28.
2. Gathmann B, Binder N, Ehl S, et al. The European internetbased patient and research database for primary immunodeficiencies: update 2011. Clin Exp Immunol 2012;167:479-91.
3. Driessen G, van der Burg M. Educational paper: primary antibody deficiencies. Eur J Pediatr 2011;170:693-702.
4. Javier FC 3rd, Moore CM, Sorensen RU. Distribution of primary immunodeficiency diseases diagnosed in a pediatric tertiary hospital. Ann Allergy Asthma Immunol 2000;84:25-30.
5. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2018;38:129-43.
6. Fried AJ, Bonilla FA. Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev 2009;22:396-414.
7. Mamishi S, Eghbali AN, Rezaei N, et al. A single center 14 years study of ınfectious complications leading to hospitalization of patients with primary antibody deficiencies. Braz J Infect Dis 2010;14:351-5.
8. Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 2002;109:581-91.
9. https://esid.org/Working-Parties/Registry-Working-Party/Diagnosis-criteria acess date 15.12.2018
10. Habahbeh ZM, Abu-Shukair ME, Almutereen MA, et al. Primary antibody deficiencies at Queen Rania Children Hospital in Jordan: single center experience. Iran J Immunol 2014;11:49-58.
11. Yorulmaz A, Artaç H, Kara R, et al. Primer İmmün Yetmezlikli 1054 Olgunun Retrospektif Değerlendirilmesi. Astım Allerji Immünoloji 2008;6:127-34.