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severe combined immunodeficiency disease with sensitivity to ionizing radiation (RS-SCID)
Pathology:
1) defective cellular & humoral immune function
2) common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development
3) individuals affected by RS-SCID also lack B-lymphocytes but retain normal levels of NK cells
4) defects in the DNA repair for V(D)J recombination
5) a subset of cells show increased radiosensitivity
6) partial SCID is a mild form of RS-SCID
a) affected individuals retain low levels of B-cells & T-cells
b) B-cell lymphoproliferative disease involving lymph nodes, liver, lung, and skeletal musclemay develop
Genetics:
1) genetically heterogeneous
2) autosomal recessive form associated with mutations in Artemis gene
Clinical manifestations:
1) clinically heterogeneous group of disorders
2) patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms
3) patients generally die within the 1st year of life unless treated by bone marrow transplantation
Database Correlations
OMIM 602450
References
OMIM :accession 602450