Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade's Experience

• DOI: 10.18176/jiaci.0147
• Publication Date: 2017-03-13T16:25:40Z
• Authors: MR Fazlollahi; Z Pourpak; AA Hamidieh; M Movahedi; M Houshmand; M Badalzadeh; M Nourizadeh; M Mahloujirad; S Arshi; M Nabavi; M Gharagozlou; A Khayatzadeh; A Dabbaghzade; L Atarod; F Zandieh; M Sadeghi Shabestary; M Mesdaghi; I Mohammadzadeh; SA Mahdaviani; MH Eslamian; F Pesaran; E Bahraminia; F Abolnezhadian; Z Arij; M Moin
• Keywords: Primary Immunodeficiency; Failure to Thrive

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 tertiary referral center Iran.From January 2006 to December 2015, we performed prospective cohort study which initial screening advanced tests were carried out suspected having SCID. Genetic analysis was also confirm diagnosis.A total 63 diagnosed with (43 male [68.3%]). The median age at onset diagnosis diagnostic delay 40 110 60 days respectively. A 49 (77.8%) had history BCG vaccination, these, one-third experienced BCG-associated complications. most common manifestations pneumonia, recurrent oral candidiasis, chronic diarrhea, failure thrive. Of thirteen who underwent hematopoietic stem cell transplantation, 8 survived 5 died before they could receive transplant. Most (34.9%) classified as T-B-NK+ mutation RAG2 or RAG1 gene.Autosomal recessive type Iranian patients. Providing high-quality training physicians patients' families reduce should be prioritized. It important raise awareness live vaccination expand donor registries speed up transplantation process.