Combined immunodeficiencies: twenty years experience from a single center in Turkey

H. Haluk Akar; Turkan Patıroglu; Michael Hershfield; Mirjam van der Burg

doi:10.5114/ceji.2015.56168

eISSN: 1644-4124
ISSN: 1426-3912

Central European Journal of Immunology

Current issue Archive Manuscripts accepted About the journal Special Issues Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures

Editorial System

Submit your Manuscript

1/2016
vol. 41

Send email

Copy url:

abstract:

Clinical immunology

Combined immunodeficiencies: twenty years experience from a single center in Turkey

H. Haluk Akar

,

Turkan Patıroglu

,

Michael Hershfield

,

Mirjam van der Burg

(Cent Eur J Immunol 2016; 41 (1): 107-115)

DOI: https://doi.org/10.5114/ceji.2015.56168

Online publish date: 2016/01/20

View full text Get citation

PlumX metrics:

Combined immunodeficiencies (CIDs) include a group of inherited monogenic disorders. CIDs are characterized by defective cellular and humoral immunities that lead to severe infections. CIDs can be classified according to immunologic phenotypes as T–B–NK– CID, T–B–NK+ CID, T–B+NK– CID and T–B+NK+ CID. In a 20-year period, from 1994 to 2014, a total of 40 CID patients were diagnosed at the Pediatric Immunology of Erciyes University Medical Faculty in Kayseri, Turkey. The gender ratio (F/M) was 3/5. The median age at the onset of symptoms was 2 months (range, 15 days – 15 years). Of the 14 T–B–NK– CIDs, 6, 2 (siblings), 1, 1 and 4 had a mutation in the ADA, PNP, Artemis, RAG1 genes and unknown genetic diagnosis respectively. Of the 15 T–B–NK+ CIDs, 3, 2 (siblings) and 10 had a mutation in the RAG1, XLF/Cernunnos genes and unknown genetic diagnosis respectively. Of the 9 T–B+NK– CIDs, 2 siblings, 1, 1 and 5 had a mutation in the ZAP70, IL2RG, DOCK8 genes and unknown genetic diagnosis respectively. Of the 2 T–B+NK+ CIDs, 2 had a mutation in the MAGT1 and ZAP70 genes respectively. Of the 40 CIDs, 26 (65%) were died and 14 (35%) are alive. Eight patients received HSCT (hematopoietic stem cell transplantation) with 62.5% survival rate. As a result, patients presented with severe infections in the first months of life have to be examined for CIDs. Shortening time of diagnosis would increase chance of HSCT as life-saving treatment in the CID patients.

keywords:

Combined immunodeficiencies: twenty years experience from a single center in Turkey

H. Haluk Akar , Turkan Patıroglu , Michael Hershfield , Mirjam van der Burg

CID, XLF, MAGT1, ZAP70, JAK3, childhood

H. Haluk Akar

,

Turkan Patıroglu

,

Michael Hershfield

,

Mirjam van der Burg