hyper-IgM syndrome type 1
Findings
No curated finding names hyper-IgM syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.
Definition from the Mondo Disease Ontology (MONDO:0010626), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating IgG concentrationHPOHP:0004315
- 6 of 6 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- DysphoniaHPOHP:0001618
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 1 of 1 reported patient
- Highly elevated creatine kinaseHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CD40LGHGNC:11935
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: hyper-IgM syndrome type 1
- Also called
- HIGM1Hyper IgM Syndromeshyper-IgM syndrome due to CD40 ligand deficiencyhyper-IgM syndrome due to CD40L deficiencyhyper-IgM syndrome, X-linkedhyperimmunoglobulin M syndromeimmunodeficiency, X-linked, with hyper-IgM, X-linked recessiveX-linked hyper-IgM syndromeXHIGM