Artemis deficiency

Artemis deficiency is included in the most severe phenotype, T-B- SCID and it is inherited as an autosomal recessive trait. The disease is characterized by a profound deficiency of both T cell and B cell immunity. It is caused by a mutation of Artemis gene which codes for a novel V(D)J recombination/DNA repair factor that belongs to the metallo-lactamase superfamily.

Alternative names

RS-SCID

Native American SCID

Severe combined immunodeficiency with sensitivity to ionizing radiation

Severe Combined Immunodeficiency, Athabaskan type

SCIDA

Artemis

Athabaskan severe combined immunodeficiency

SCID with radiosensitivity

Classification

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

Inheritance

Autosomal recessive

OMIM

#602450 Severe combined immunodeficiency with sensitivity to ionizing radiation

*605988 DNA cross-link repair protein 1C; DCLRE1C

Cross references

Incidence

1 in 2,000 live births among Navajo Indians