Hematology · Hematology / Lymphoproliferative disorders
Omenn syndrome
also: Severe combined immunodeficiency with erythroderma
Leaky SCID with erythroderma, eosinophilia and lymphadenopathy.
- Specialty
- Hematology
- Subspecialty
- Hematology / Lymphoproliferative disorders
- Sex & age distribution
- Male: affected; Female: affected; Children: yes, infancy
- Gene(s) involved
- ADA, DCLRE1C, IL7R, RAG1, RAG2, RMRP
- Alternative names & eponyms
- Severe combined immunodeficiency with erythroderma
Etiology & mechanism
Hypomorphic RAG variants.
Gene(s) involved (6)
Symptoms & signs (7)
In plain terms, someone with Omenn 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
2 shared
Acquired immunodeficiency syndrome
diarrhea, lymphadenopathy
2 shared
Cronkhite–Canada syndrome
alopecia, diarrhea
2 shared
DRESS syndrome
eosinophilia, lymphadenopathy
2 shared
Satoyoshi syndrome
alopecia, diarrhea
2 shared
Sézary syndrome
erythroderma, lymphadenopathy
1 shared
APDS syndrome
lymphadenopathy
1 shared
Autoimmune lymphoproliferative syndrome
lymphadenopathy
1 shared
Autoimmune polyglandular syndrome type 1
alopecia
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Bartter syndrome
failure to thrive
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