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immunodeficiency 102 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 102

MONDO:0024781

Also known as:IMD102SASH3 deficiencyX-linked CID due to SASH3 deficiency

Overview

An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.

GeneticsX-linked · SASH3 (chr X)

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 naive CD4+ T cell proportion, Recurrent lower respiratory tract infections, Reduced total natural killer cell count, and Partial absence of specific antibody response to unconjugated pneumococcus vaccine and others; and very common findings: Decreased circulating total IgM. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	7

Genetic Landscape

SASH3 function has not been fully characterized.

Immunodeficiency 102 is associated with mutations in the SASH3 gene on chromosome X.

Diagnosis

Genetic testing for SASH3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for immunodeficiency 102 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 always present features, 1 very common feature, 16 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 102.

201 publications have been identified in PubMed for immunodeficiency 102. Kisho has analyzed 107 by research type. Research spans Epidemiology / Natural History (49%), Review / Meta-Analysis (13%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Disease patterns and progression	52	49%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301082

Orphanet

European rare disease database

Orphanet:653751

Questions for Your Care Team

→Should female family members consider carrier screening for SASH3?
→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 102

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 102

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