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hyper-IgM syndrome type 4 (HIGM4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgM syndrome type 4

MONDO:0011985

Also known as:HIGM4hyper IgM syndrome 4immunodeficiency with hyper IgM type 4

Overview

A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Recurrent infection of the gastrointestinal tract, Bronchiectasis, Autoimmune hemolytic anemia, and Absence of lymph node germinal center and 7 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Recurrent infection of the gastrointestinal tract, Autoimmune hemolytic anemia, Recurrent bacterial infections

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyper-IgM syndrome type 4.

12 publications have been identified in PubMed for hyper-IgM syndrome type 4. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Patient case studies	4	36%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608184

Orphanet

European rare disease database

Orphanet:101091

GARD

Genetic and Rare Diseases Info Center

GARD:10580

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hyper-IgM syndrome type 4

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyper-IgM syndrome type 4

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications