Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hyper-IgM syndrome type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-IgM syndrome type 3

MONDO:0011735

Also known as:CD40 hyper-IgM syndromeHIGM3hyper-IgM syndrome caused by mutation in CD40

Overview

A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.

GeneticsAutosomal recessive · CD40 (chr 20)

Patient Orgs1 organizations · Hyper IgM Foundation

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: Decreased circulating IgE concentration, Increased circulating IgM level, Absence of lymph node germinal center, and Impaired Ig class switch recombination and 6 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Recurrent bacterial infections, Decreased total neutrophil count, Immunodeficiency

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CD40 encodes CD40 molecule (277 aa). Receptor for TNFSF5/CD40LG. Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion Highest expression in Cells EBV-transformed lymphocytes (217.3 TPM) and Lung (49.9 TPM).

Hyper-IgM syndrome type 3 is caused by mutations in the CD40 gene on chromosome 20.

The CD40 protein participates in CD40:CD40L trimer, CD40:CD40L trimer:cIAP1,2:TRAF2:TRAF3:NIK, and Expression of STAT6-upregulated extracellular proteins pathways.

CD40 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, and Transcription Factor categories) with score 4.4.

Diagnosis

Genetic testing for CD40 is available. Testing is considered confirmatory for diagnosis.

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 3.

15 publications have been identified in PubMed for hyper-IgM syndrome type 3. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (27%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Patient case studies	8	53%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

View all PAGs →

Hyper IgM FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

Are you a patient organization not listed here? Claim this page to be listed and embed this content on your site — free.

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606843

Orphanet

European rare disease database

Orphanet:101090

GARD

Genetic and Rare Diseases Info Center

GARD:10579

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?
→How can I connect with Hyper IgM Foundation and other patient organizations for support?

← Back to All Diseases

Kisho

hyper-IgM syndrome type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

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 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications