RAG1 deficiency

The functional failure of one of the constituents of the V(D)J recombinase machinery, such RAG1 or RAG2, results in a severe combined immunodeficiency without B and T cells. The RAG1 and RAG2 deficiency is an autosomal recessive disease.

Alternative names

SCID

Recombination defect

Complete RAG1 deficiency

SCID with RAG1 deficiency

Classification

  • Combined B and T cell immunodeficiencies
    • T-B- Severe combined immunodeficiency (SCID)

Inheritance

Autosomal recessive

OMIM

#601457 Severe combined immunodeficiency, B cell-negative

*179615 Recombination-activationg gene 1; RAG1

Cross references

Genetically related immunodeficiencies

IDR factfile for RAG2 deficiency

IDR factfile for Omenn syndrome

Incidence

~ 1/100,000 live births.