Immunodeficiency with elevated IgM and low IgG, IgA, IgE.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric immunology
- Sex & age distribution
- Male: affected, X-linked; Female: affected, autosomal; Children: yes, infancy
- Gene(s) involved
- AICDA, CD40, CD40LG, UNG
- Alternative names & eponyms
- CD40 ligand deficiency
Etiology & mechanism
Defective class switching.
Gene(s) involved (4)
Symptoms & signs (5)
In plain terms, someone with Hyper-IgM 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.
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Shares symptoms with
3 shared
Immunodeficiency with hyper IgM syndrome
autoimmunity, neutropenia, recurrent infections
2 shared
Barth syndrome
neutropenia, recurrent infections
2 shared
Felty syndrome
neutropenia, recurrent infections
2 shared
Shwachman–Diamond syndrome
neutropenia, recurrent infections
2 shared
Wiskott–Aldrich syndrome
autoimmunity, recurrent infections
1 shared
Bare lymphocyte syndrome
recurrent infections
1 shared
Barth syndrome with neurological involvement
neutropenia
1 shared
Chediak–Higashi syndrome
recurrent infections
1 shared
Chédiak–Higashi syndrome
recurrent infections
1 shared
Cohen syndrome
neutropenia
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