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immunodeficiency 98 with autoinflammation, X-linked (IMD98) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 98 with autoinflammation, X-linked

MONDO:0024777

Also known as:IMD98X-linked immunodeficiency with autoinflammationinflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8

Overview

An immunodeficiency disease characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Laboratory studies show evidence of immune dysregulation, including hypogammaglobulinemia with reduced memory B cells, skewed T-cell subsets, increased levels of proinflammatory cytokines, activated T cells and monocytes, and autoimmune cytopenias, including neutropenia.

GeneticsX-linked · TLR8 (chr X)

ResearchLimited published research (3 articles)

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 neutrophil count; and very common findings: Enlarged liver (hepatomegaly), Low platelet count (thrombocytopenia), Enlarged spleen (splenomegaly), and Decreased circulating IgG concentration. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	5	Autoimmune hemolytic anemia, Recurrent infections, Low platelet count (thrombocytopenia)

Genetic Landscape

TLR8 function has not been fully characterized.

Immunodeficiency 98 with autoinflammation, X-linked is associated with mutations in the TLR8 gene on chromosome X.

Diagnosis

Genetic testing for TLR8 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features, 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 immunodeficiency 98 with autoinflammation, X-linked.

3 publications have been identified in PubMed for immunodeficiency 98 with autoinflammation, X-linked. Research spans Review / Meta-Analysis (100%).

Recent Publications

Tobin JM (2025). [PMID: 40842819](https://pubmed.ncbi.nlm.nih.gov/40842819/). *J Hum Immun*. [Review / Meta-Analysis]
Natoli V (2025). [PMID: 41410901](https://pubmed.ncbi.nlm.nih.gov/41410901/). *Curr Rheumatol Rep*. [Review / Meta-Analysis]
Dantas JG (2024). [PMID: 39385260](https://pubmed.ncbi.nlm.nih.gov/39385260/). *Adv Rheumatol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301078

Orphanet

European rare disease database

Orphanet:675628

Questions for Your Care Team

→Should female family members consider carrier screening for TLR8?
→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 98 with autoinflammation, X-linked

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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