severe combined immunodeficiency disease with sensitivity to ionizing radiation (RS-SCID)

Pathology

• defective cellular & humoral immune function
• common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development
• individuals affected by RS-SCID also lack B-lymphocytes but retain normal levels of NK cells
• defects in the DNA repair for V(D)J recombination
• a subset of cells show increased radiosensitivity
• partial SCID is a mild form of RS-SCID
  • affected individuals retain low levels of B-cells & T-cells
  • B-cell lymphoproliferative disease involving lymph nodes, liver, lung, and skeletal musclemay develop

Genetics

• genetically heterogeneous
• autosomal recessive form associated with mutations in Artemis gene

Clinical manifestations

• clinically heterogeneous group of disorders
• patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms
• patients generally die within the 1st year of life unless treated by bone marrow transplantation

More general terms

• combined immune deficiency

Database

• OMIM: https://mirror.omim.org/entry/602450