Severe combined immunodeficiency syndrome

Also known as: Bubble boy disease; SCID

Absent T-cell function with B-cell dysfunction.

Medical specialty: Immunology
Subspecialty: Immunology / Primary immunodeficiency
Sex & age distribution: Male: affected, X-linked most common; Female: affected, autosomal; Children: yes, infancy
Gene(s) involved: ADA, CD3D, CD3E, DCLRE1C, IL2RG, IL7R, JAK3, PTPRC, RAG1, RAG2, ZAP70

Etiology & mechanism

Mutations in lymphocyte development genes.

Gene(s) involved (11)

ADACD3DCD3EDCLRE1CIL2RGIL7RJAK3PTPRCRAG1RAG2ZAP70

Symptoms & signs (5)

absent thymic shadowchronic diarrheafailure to thriverecurrent infectionsthrush

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