combined immune deficiency; severe combined immunodeficiency disease (SCID CID)

Epidemiology

rare

Pathology

• impairment of both humoral & cell-mediated immunity
• leukopenia
• low or absent antibody levels
• absence of T-cell-mediated cellular immunity due to a defect in T-cell development

Genetics

• genetically heterogeneous

Clinical manifestations

• clinically heterogeneous
• generally, patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms

Laboratory

• see ARUP consult

Management

• avoid live virus vaccines, BCG

More general terms

• mixed cellular & humoral immune dysfunction
• genetic disease of the immune system

More specific terms

• Athabascan severe combined immunodeficiency disease
• Nezelof syndrome; combined immunodeficiency with normal immunoglobulins
• selective T-cell defect
• severe combined immunodeficiency disease (SCID) due to adenosine deaminase deficiency
• severe combined immunodeficiency disease due to CRACM1 defect
• severe combined immunodeficiency disease due to NHEJ1 defect
• severe combined immunodeficiency disease with sensitivity to ionizing radiation (RS-SCID)
• severe combined immunodeficiency disease, autosomal recessive, T-negative/B-positive type
• severe combined immunodeficiency disease, autosomal recessive, T-negative/B-positive/NK-positive (SCIDBNK) type
• severe combined immunodeficiency disease, B-cell negative
• X-linked severe combined immunodeficiency (Swiss type agammaglobulinemia)