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immunodeficiency 67 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

immunodeficiency 67

MONDO:0011888

Also known as:IRAK4 deficiencyimmunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyinvasive pneumococcal disease, recurrent isolated, 1

Overview

An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

GeneticsAutosomal recessive · IRAK4 (chr 12)

ResearchLimited published research (9 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: Meningitis, Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine, Recurrent streptococcal infections, and Septic arthritis and others; and common findings: Increased circulating IgE concentration and Liver abscess. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Transiently decreased total neutrophil count, Recurrent streptococcal infections, Recurrent staphylococcal infections

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.

IRAK4 encodes interleukin 1 receptor associated kinase 4 (460 aa). Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signaling pathways. Highest expression in Spleen (29.7 TPM) and Cells EBV-transformed lymphocytes (22.7 TPM).

Immunodeficiency 67 is associated with mutations in the IRAK4 gene on chromosome 12.

The IRAK4 protein participates in p-2S,S376,T,T209,T387-IRAK1, IRAK4 pathway.

IRAK4 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 2.4.

Diagnosis

Genetic testing for IRAK4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 2 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 67.

9 publications have been identified in PubMed for immunodeficiency 67. Research spans Case Report / Case Series (56%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (11%).

Recent Publications

Zhang J (2026). [PMID: 42103176](https://pubmed.ncbi.nlm.nih.gov/42103176/). *Gene*. [Basic Science / Preclinical]
Lin Y (2025). [PMID: 41233127](https://pubmed.ncbi.nlm.nih.gov/41233127/). *Zhonghua er ke za zhi = Chinese journal of pediatrics*. [Case Report / Case Series]
Kindle G (2025). [PMID: 40568655](https://pubmed.ncbi.nlm.nih.gov/40568655/). *medRxiv : the preprint server for health sciences*. [Epidemiology / Natural History]
Jurczuk A (2025). [PMID: 41369391](https://pubmed.ncbi.nlm.nih.gov/41369391/). *Cells*. [Review / Meta-Analysis]
Kindle G (2025). [PMID: 41347188](https://pubmed.ncbi.nlm.nih.gov/41347188/). *Journal of human immunity*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607676

Orphanet

European rare disease database

Orphanet:70592

GARD

Genetic and Rare Diseases Info Center

GARD:10311

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?

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immunodeficiency 67

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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