Interleukin 7 receptor deficiency

Defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.

Alternative names

IL7R

IL7R deficiency

IL-7 receptor alpha chain (CD127)

Classification

  • Combined B and T cell immunodeficiencies
    • T-B+ SCID

Inheritance

Autosomal recessive

OMIM

#600802 Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type

*146661 Interleukin 7 receptor; IL7R

Cross references

Phenotypically related immunodeficiencies

IDR factfile for X-linked SCID(gamma-chain deficiency)

IDR factfile for JAK3 deficiency

Incidence

Incidence it is not known yet.