Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s
M R Fazlollahi1, Z Pourpak1, A A Hamidieh2
1Immunology Asthma and Allergy Research Institute (IAARI), Tehran University of Medical Sciences, Tehran, Iran.
Insights
Autosomal recessive severe combined immunodeficiency (SCID) is common in Iranian children, with significant diagnostic delays. Early diagnosis and intervention, including awareness of vaccination risks and expanded stem cell registries, are crucial for improving outcomes.
Area of Science:
- Pediatric Immunology
- Genetics
- Hematology
Background:
- Severe combined immunodeficiency (SCID) is a critical pediatric condition.
- This study focuses on SCID patients in an Iranian tertiary referral center.
Purpose of the Study:
- To evaluate the clinical, immunological, and molecular aspects of SCID in Iranian patients.
- To determine the outcomes of SCID management and treatment.
Main Methods:
- A prospective cohort study was conducted from 2006 to 2015.
- Included initial screening, advanced immunological tests, and genetic analysis for SCID diagnosis.
- Followed 63 diagnosed SCID patients.
Main Results:
- The majority of SCID patients were male (68.3%).
- Common manifestations included pneumonia, oral candidiasis, chronic diarrhea, and failure to thrive.
- T-B-NK+ SCID with RAG1/RAG2 mutations was most prevalent (34.9%).
- Hematopoietic stem cell transplantation had a survival rate of 61.5% in this cohort.
Conclusions:
- Autosomal recessive SCID is the predominant form in Iran.
- Reducing diagnostic delay through physician and family education is essential.
- Raising awareness about live vaccination risks and expanding stem cell donor registries are recommended.
Background:
Severe combined immunodeficiency (SCID) is a life-threatening pediatric disease. We report on the clinical evaluation, immunological assessment, molecular analysis, and outcomes of SCID patients in a tertiary referral center in Iran.
Methods:
From January 2006 to December 2015, we performed a prospective cohort study in which initial screening and advanced immunological tests were carried out on patients suspected of having SCID. Genetic analysis was also performed to confirm the diagnosis.
Results:
A total of 63 patients were diagnosed with SCID (43 male [68.3%]). The median age at onset and diagnosis and diagnostic delay were 40 and 110 and 60 days respectively. A total of 49 patients (77.8%) had a history of BCG vaccination, and of these, one-third experienced BCG-associated complications. The most common clinical manifestations were pneumonia, recurrent oral candidiasis, chronic diarrhea, and failure to thrive. Of the thirteen patients who underwent hematopoietic stem cell transplantation, 8 survived and 5 died before they could receive the transplant. Most patients (34.9%) were classified as having T-B-NK+ SCID and had a mutation in the RAG2 or RAG1 gene.
Conclusions:
Autosomal recessive SCID is the most common type in Iranian patients. Providing high-quality training to physicians and patients' families to reduce the diagnostic delay should be prioritized. It is also important to raise awareness of live vaccination and to expand stem cell donor registries to speed up the transplantation process.
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