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Information Journal Paper

Title

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

Pages

  47-52

Abstract

 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.

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    APA: Copy

    shirmast, Paniz, & Moeini Shad, Tannaz. (2020). Case Report: MALT1 Mutation in a Patient with Severe Combined Immunodeficiency. IMMUNOLOGY AND GENETICS JOURNA, 3(3), 47-52. SID. https://sid.ir/paper/756474/en

    Vancouver: Copy

    shirmast Paniz, Moeini Shad Tannaz. Case Report: MALT1 Mutation in a Patient with Severe Combined Immunodeficiency. IMMUNOLOGY AND GENETICS JOURNA[Internet]. 2020;3(3):47-52. Available from: https://sid.ir/paper/756474/en

    IEEE: Copy

    Paniz shirmast, and Tannaz Moeini Shad, “Case Report: MALT1 Mutation in a Patient with Severe Combined Immunodeficiency,” IMMUNOLOGY AND GENETICS JOURNA, vol. 3, no. 3, pp. 47–52, 2020, [Online]. Available: https://sid.ir/paper/756474/en

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