TMEM142 deficiency

Defects in TMEM142a are a cause of severe combined immunodeficiency (SCID) with defects in store-operated Ca(2+) entry and CRAC channel function [mim:610277]. The SCID T-cells show a severe impairment in NFAT-dependent gene activation.

Alternative names

Orai1

Autosomal recessive severe combined immunodeficiency, with CRAC channel dysfunction

Classification

  • Combined B and T cell immunodeficiencies
    • Other

Inheritance

Autosomal recessive

OMIM

*610277 Transmembrane protein 142A

Cross references

Phenotypically related immunodeficiencies

ZAP-70 deficiency

Incidence

Incidence is not known yet.