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

immunodeficiency 76 (IMD76) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 76

MONDO:0030898

Also known as:IMD76combined immunodeficiency due to FCHO1 deficiencyimmunodeficiency due to FCHO1 deficiency

Overview

An autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood.

GeneticsAutosomal recessive · FCHO1 (chr 19)

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 total T cell count, Decreased total lymphocyte count, and Recurrent pneumonia; and common findings: Recurrent bronchiolitis, Lymphadenopathy, Growth delay, and Enlarged spleen (splenomegaly) and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Colitis, Enlarged spleen (splenomegaly), Chronic diarrhea

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.

FCHO1 encodes FCH and mu domain containing endocytic adaptor 1 (889 aa). Functions in an early step of clathrin-mediated endocytosis. Highest expression in Cells EBV-transformed lymphocytes (24.9 TPM) and Skin Sun Exposed Lower leg (24.5 TPM).

Immunodeficiency 76 is caused by mutations in the FCHO1 gene on chromosome 19.

The FCHO1 protein participates in FCHo proteins bind nascent clathrin-coated pit and F- and N- BAR domain proteins bind the clathrin-coated pit pathways.

FCHO1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FCHO1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 76 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 5 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 76.

206 publications have been identified in PubMed for immunodeficiency 76. Kisho has analyzed 125 by research type. Research spans Epidemiology / Natural History (43%), Review / Meta-Analysis (19%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Disease patterns and progression	54	43%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 12:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619164

Orphanet

European rare disease database

Orphanet:647804

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?

← Back to All Diseases

Kisho

immunodeficiency 76

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 76

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications