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

Area of Science:

• Immunology
• Genetics
• Pediatrics

Background:

• Combined immunodeficiencies (CIDs) are inherited disorders affecting both cellular and humoral immunity.
• CIDs lead to severe, recurrent infections, particularly in early childhood.
• Classification of CIDs includes phenotypes like T(-)B(-)NK(-) CID, T(-)B(-)NK(+) CID, T(-)B(+)NK(-) CID, and T(-)B(+)NK(+) CID.

Purpose of the Study:

• To analyze the clinical and genetic characteristics of CID patients diagnosed over a 20-year period.
• To evaluate the outcomes of hematopoietic stem cell transplantation (HSCT) in CID patients.
• To emphasize the importance of early CID diagnosis for improved patient survival.

Main Methods:

• Retrospective analysis of 40 CID patients diagnosed between 1994 and 2014.
• Review of patient data including immunologic phenotype, genetic mutations, and clinical outcomes.
• Assessment of HSCT success rates in a subset of patients.

Main Results:

• A total of 40 CID patients were diagnosed, with a female to male ratio of 3:5.
• Genetic mutations were identified in ADA, PNP, Artemis, RAG1, XLF/Cernunnos, ZAP70, IL2RG, and MAGT1 genes.
• Mortality rate was 65%, while HSCT achieved a 62.5% survival rate in treated patients.

Conclusions:

• Severe infections in infancy warrant investigation for CIDs.
• Timely diagnosis is crucial for enabling life-saving HSCT.
• Understanding genetic mutations aids in classifying and managing CIDs.