Immunology · Immunology / Primary immunodeficiency
Severe combined immunodeficiency syndrome
also: Bubble boy disease; SCID
Absent T-cell function with B-cell dysfunction.
- 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
- Alternative names & eponyms
- Bubble boy disease; SCID
Etiology & mechanism
Mutations in lymphocyte development genes.
Gene(s) involved (11)
Symptoms & signs (5)
In plain terms, someone with Severe combined immunodeficiency syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Bare lymphocyte syndrome
chronic diarrhea, failure to thrive, recurrent infections
2 shared
Netherton syndrome
failure to thrive, recurrent infections
2 shared
Shwachman–Diamond syndrome
failure to thrive, recurrent infections
1 shared
Barth syndrome
recurrent infections
1 shared
Bartter syndrome
failure to thrive
1 shared
Chediak–Higashi syndrome
recurrent infections
1 shared
Chédiak–Higashi syndrome
recurrent infections
1 shared
Cobalamin C syndrome
failure to thrive
1 shared
Diencephalic syndrome
failure to thrive
1 shared
DiGeorge syndrome
recurrent infections
Shares genes with
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