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autoinflammatory syndrome with immunodeficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autoinflammatory syndrome with immunodeficiency

MONDO:0800130

Overview

An autoinflammatory syndrome characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Typical features include autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. More variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus (SL). Some patients may have recurrent infections or exacerbation of the disease with acute infection. Laboratory studies show variable findings, often decreased numbers of naive B cells, lymphopenia with skewed subsets, hypogammaglobulinemia, presence of autoantibodies, and a hyperinflammatory state. The disorder shows autosomal dominant inheritance with incomplete penetrance.

GeneticsAutosomal dominant · SOCS1 (chr 16)

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 common findings: Decreased class-switched memory B cell proportion, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, and Anti-U1 ribonucleoprotein antibody positivity and others; and sometimes findings: Glomerulonephritis, Enlarged liver (hepatomegaly), Spondylitis, and Hodgkin lymphoma and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	5	Hodgkin lymphoma, Autoimmune thrombocytopenia, Recurrent respiratory infections

Genetic Landscape

SOCS1 function has not been fully characterized.

Autoinflammatory syndrome with immunodeficiency is caused by mutations in the SOCS1 gene on chromosome 16.

Diagnosis

Genetic testing for SOCS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autoinflammatory syndrome with immunodeficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 autoinflammatory syndrome with immunodeficiency.

123 publications have been identified in PubMed for autoinflammatory syndrome with immunodeficiency. Research spans Epidemiology / Natural History (28%), Review / Meta-Analysis (28%), and Case Report / Case Series (22%).

Research Type	Count	% of Total
Disease patterns and progression	35	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619375

Questions for Your Care Team

→Should I pursue genetic testing for SOCS1, and what would the results mean for my family?
→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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Kisho

autoinflammatory syndrome with immunodeficiency

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

autoinflammatory syndrome with immunodeficiency

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