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 105 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 105

MONDO:0800104

Also known as:IMD105SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positivesevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive

Overview

Any immunodeficiency disease which the cause of the disease is a mutation in the PTPRC gene.

GeneticsAutosomal recessive · PTPRC (chr 1)

OnsetCHILDHOOD

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 circulating total IgM, Decreased circulating immunoglobulin concentration, and Absence of lymph node germinal center and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	B-cell lymphoma, Low blood cell counts (all types) (pancytopenia)

Genetic Landscape

PTPRC function has not been fully characterized.

Immunodeficiency 105 is associated with mutations in the PTPRC gene on chromosome 1.

Diagnosis

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

Biomarker and diagnostic research for immunodeficiency 105 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 15 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 105.

228 publications have been identified in PubMed for immunodeficiency 105. Research spans Epidemiology / Natural History (43%), Clinical Trial Publication (14%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Disease patterns and progression	99	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619924

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 105

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

immunodeficiency 105

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications