Case Report: MALT1 Mutation in A Patient with Severe Combined Immunodeficiency

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 a variety of infections, sometimes with fatal outcomes. 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 the absence of T cell activation, which produces immature lymphocytes leading to SCID.