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pyogenic bacterial infections due to MyD88 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pyogenic bacterial infections due to MyD88 deficiency

MONDO:0012839

Also known as:MYD88DMyD88 deficiencyimmunodeficiency 68

Overview

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

GeneticsAutosomal recessive · MYD88 (chr 3)

OnsetCONGENITAL

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: Delayed umbilical cord separation; and common findings: Recurrent meningitis and Abscess. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Recurrent meningitis

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.

MYD88 encodes MYD88 innate immune signal transduction adaptor (296 aa). Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Highest expression in Whole Blood (199.5 TPM) and Spleen (107.1 TPM).

Pyogenic bacterial infections due to MyD88 deficiency is associated with mutations in the MYD88 gene on chromosome 3.

MYD88 is classified as a druggable target (Cell Surface, Clinically Actionable, and Serine Threonine Kinase categories) with score 4.4.

Diagnosis

Genetic testing for MYD88 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 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 pyogenic bacterial infections due to MyD88 deficiency.

16 publications have been identified in PubMed for pyogenic bacterial infections due to MyD88 deficiency. Research spans Basic Science / Preclinical (56%), Case Report / Case Series (25%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	9	56%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612260

Orphanet

European rare disease database

Orphanet:183713

GARD

Genetic and Rare Diseases Info Center

GARD:12638

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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Kisho

pyogenic bacterial infections due to MyD88 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pyogenic bacterial infections due to MyD88 deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications