Pediatrics · Pediatrics / Pediatric immunology
Bare lymphocyte syndrome
also: MHC class II deficiency
Severe combined immunodeficiency from absent MHC expression.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric immunology
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, infancy
- Gene(s) involved
- CIITA, RFX5, RFXANK, RFXAP
- Alternative names & eponyms
- MHC class II deficiency
Etiology & mechanism
Defective transcription of MHC class II genes.
Gene(s) involved (4)
Symptoms & signs (4)
In plain terms, someone with Bare lymphocyte 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
Severe combined immunodeficiency 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
None.
Loading…
Loading…