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.