Almost half (49%) of the total marriages being blood related ( 11). Oman has a remarkably high rate of consanguineous marriage. Mortality increases sharply in older children with active infection at the time of HSCT, survival falls to 50–80% ( 9, 10). The main stay of treatment of SCID is hematopoietic stem cell transplantation (HSCT) with nearly normal survival at 5 years interval, particularly when HSCT is completed by the age of 3.5 months of life in children free from infections. SCID is often fatal if undiagnosed and untreated within the first 1–2 years of life. However, in countries where consanguineous marriages are a common practice, the incidence have been reported to be higher such as in Saudi Arabia was found to be 1:2,906 ( 8), (20×) higher than the incidence reported from USA NBS programs. SCID NBS has revealed an incidence of 1 in 131,485 in Taiwan ( 5), 1: 58,000 in USA ( 6), and 1 in 11,821 in China ( 7). In fact, the introduction of the NBS programs has shown that SCID is commoner than initially thought. To date, a population based NBS diagnosis entails the best strategy for the early identification of such affected newborns prior to the onset of infections and other complications. Thus, the prevalence of SCID has been estimated at 1/100,000 in parts of the USA that have implement NBS ( 3), compared to 20/100,000 live births in the Middle East ( 4). This reflects differences in prevalence of recessive disorders as well as differences in case ascertainment depending on whether newborn based SCID screening programs (NBS) have been implemented. The incidence of SCID varies in different geographical locations. More than twenty monogenic defects have been identified in children with SCID ( 1, 2). Clinical presentation is dominated by severe opportunistic infections. It is characterized by an arrest in T lymphocyte development with variable abnormalities in B and NK cells. Severe Combined Immunodeficiency (SCID) is a genetically heterogeneous, which is almost always a lethal disorder of infancy. Similarly, Major histocompatibility complex type II deficiency accounted for (n = 5, 13.9%) of our cohort.Ĭonclusion: Our report broadens the knowledge of clinical and molecular manifestations in children with SCID in the region and highlights the need to initiate newborn based screening program (NBS) program. 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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