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immunodeficiency 61 (AGMX2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 61

MONDO:0010296

Also known as:AGMX2immunodeficiency 61, X-linked recessiveXLA2

Overview

GeneticsX-linked · SH3KBP1 (chr X)

ResearchLimited published research (6 articles)

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 always present findings: Decreased circulating total IgM, Recurrent bacterial infections, Recurrent otitis media, and Decreased circulating IgG4 concentration and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Recurrent bacterial infections, Recurrent respiratory infections

Genetic Landscape

SH3KBP1 function has not been fully characterized.

Immunodeficiency 61 has limited evidence linking it to mutations in the SH3KBP1 gene on chromosome X.

Diagnosis

Genetic testing for SH3KBP1 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for immunodeficiency 61 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features.

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 immunodeficiency 61.

6 publications have been identified in PubMed for immunodeficiency 61. Research spans Basic Science / Preclinical (33%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).

Recent Publications

Thiruvaiyaru A (2025). [PMID: 40193402](https://pubmed.ncbi.nlm.nih.gov/40193402/). *PLoS Pathog*. [Basic Science / Preclinical]
Fonseca M (2025). [PMID: 40698220](https://pubmed.ncbi.nlm.nih.gov/40698220/). *Cureus*. [Case Report / Case Series]
Allaoui A (2025). [PMID: 40703516](https://pubmed.ncbi.nlm.nih.gov/40703516/). *Front Immunol*. [Epidemiology / Natural History]
Zhang J (2025). [PMID: 41204291](https://pubmed.ncbi.nlm.nih.gov/41204291/). *Eur J Med Res*. [Basic Science / Preclinical]
Sgrulletti M (2024). [PMID: 39124588](https://pubmed.ncbi.nlm.nih.gov/39124588/). *J Clin Med*. [Clinical Trial Publication]
Wójtowicz A (2024). [PMID: 39410589](https://pubmed.ncbi.nlm.nih.gov/39410589/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300310

GARD

Genetic and Rare Diseases Info Center

GARD:10007

Questions for Your Care Team

→Should female family members consider carrier screening for SH3KBP1?
→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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immunodeficiency 61

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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