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

Publication ,  Journal Article
Akar, HH; Patiroglu, T; Hershfield, M; Van Der Burg, M
Published in: Central European Journal of Immunology
January 1, 2016

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 RAG 1, 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.

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Published In

Central European Journal of Immunology

DOI

EISSN

1644-4124

ISSN

1426-3912

Publication Date

January 1, 2016

Volume

41

Issue

1

Start / End Page

107 / 115

Related Subject Headings

  • Immunology
  • 1107 Immunology
 

Citation

APA
Chicago
ICMJE
MLA
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Akar, H. H., Patiroglu, T., Hershfield, M., & Van Der Burg, M. (2016). Combined immunodeficiencies: Twenty years experience from a single center in Turkey. Central European Journal of Immunology, 41(1), 107–115. https://doi.org/10.5114/ceji.2015.56168
Akar, H. H., T. Patiroglu, M. Hershfield, and M. Van Der Burg. “Combined immunodeficiencies: Twenty years experience from a single center in Turkey.” Central European Journal of Immunology 41, no. 1 (January 1, 2016): 107–15. https://doi.org/10.5114/ceji.2015.56168.
Akar HH, Patiroglu T, Hershfield M, Van Der Burg M. Combined immunodeficiencies: Twenty years experience from a single center in Turkey. Central European Journal of Immunology. 2016 Jan 1;41(1):107–15.
Akar, H. H., et al. “Combined immunodeficiencies: Twenty years experience from a single center in Turkey.” Central European Journal of Immunology, vol. 41, no. 1, Jan. 2016, pp. 107–15. Scopus, doi:10.5114/ceji.2015.56168.
Akar HH, Patiroglu T, Hershfield M, Van Der Burg M. Combined immunodeficiencies: Twenty years experience from a single center in Turkey. Central European Journal of Immunology. 2016 Jan 1;41(1):107–115.

Published In

Central European Journal of Immunology

DOI

EISSN

1644-4124

ISSN

1426-3912

Publication Date

January 1, 2016

Volume

41

Issue

1

Start / End Page

107 / 115

Related Subject Headings

  • Immunology
  • 1107 Immunology