The most frequent genetic cause of SCID in this cohort (n = 36) was (RAG-1), encoding for recombination activating gene (n = 5, 13.9%). Eleven children (30.6%) have received hematopoietic stem cell transplant (HSCT) with a survival rate of 73%. The most common clinical manifestations were pneumonia, septicemia, and chronic diarrhea. The median age at onset, diagnosis and diagnostic delay were 54, 135, and 68 days, respectively. Twenty-three children (63.9%) fulfilled the criteria for typical SCID. Results: We observed a median annual incidence rate of 4.5 per 100,000 Omani live births, and 91.7% of affected children were born to consanguineous parents. Method: Here, we report the clinical, immunological, and molecular findings in 36 children diagnosed with SCID from a single tertiary center in Oman for the last decade. Although overall rare, it constitutes a major burden on affected children, their families and on the health system especially in communities with a high rate of consanguinity where incidence and prevalence of recessive inborn errors of immunity (IEI) are expected to be high. The main stay of treatment for SCID is hematopoietic stem cell transplant (HSCT) with near normal survival at 5 years for an early transplant done at or before the age of 3.5 months of life and the patient is maintained free of infections. Introduction: Severe combined immunodeficiency (SCID) results from various monogenic defects that impair immune function and brings on early severe and life-threatening infections. 5Centre for Personalized Immunology (NHMRC Centre of Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, NSW, Australia.4Translational Research Unit, Department of Immunology, The Canberra Hospital, Canberra, NSW, Australia.3Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, NSW, Australia. 2Department of Microbiology and Immunology, Sultan Qaboos University Hospital, Muscat, Oman.1Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman.Nashat Al Sukaiti 1, Khwater Ahmed 1, Jalila Alshekaili 2, Mahmood Al Kindi 2, Matthew C.
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