چکیده انگلیسی:
Severe combined immunodeficiency (SCID) is one of the most serious and life-threatening forms of primary immunodeficiency disorders (PID). SCID patients manifest a large clinically heterogeneous group of monogenic disorders caused by a defect in human innate and adaptive immune response. It leads to an increased susceptibility to variety of infections, sometimes with fetal outcome. To date, more than 30 candidate genes and mutations in patients with SCID phenotype have been identified. We found a homozygous variation (c.1454 A>G_ p. Asn485Ser) in the MALT1 identified by WES in an expired infant with SCID. The mutation in MALT1 is associated with absence of T cell activation, which produces immature lymphocytes leading to SCID.
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