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immunodeficiency 64 (IMD64) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 64

MONDO:0032803

Also known as:IMD64

Overview

GeneticsAutosomal recessive · RASGRP1 (chr 15)

OnsetCHILDHOOD, INFANTILE

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: Recurrent lower respiratory tract infections, Increased circulating IgM level, Autoimmune hemolytic anemia, and Antinuclear antibody positivity and others; and common findings: Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, and Autoimmune thrombocytopenia.

Organ System	Phenotype Count	Example Features
Blood and immune system	6	Recurrent lower respiratory tract infections, Autoimmune hemolytic anemia, Recurrent infections

Genetic Landscape

RASGRP1 function has not been fully characterized.

Immunodeficiency 64 is caused by mutations in the RASGRP1 gene on chromosome 15.

Diagnosis

Genetic testing for RASGRP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 64 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 22 always present features, 3 common 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 64.

238 publications have been identified in PubMed for immunodeficiency 64. Research spans Epidemiology / Natural History (58%), Review / Meta-Analysis (14%), and Clinical Trial Publication (10%).

Research Type	Count	% of Total
Disease patterns and progression	139	58%

Data assembled from 6 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:618534

GARD

Genetic and Rare Diseases Info Center

GARD:16360

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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immunodeficiency 64

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 64

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications