immunodeficiency 67
Findings
No curated finding names immunodeficiency 67 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.
Definition from the Mondo Disease Ontology (MONDO:0011888), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 1 of 1 reported patient
- MeningitisHPOHP:0001287
- 1 of 1 reported patient
- Recurrent staphylococcal infectionsHPOHP:0007499
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Recurrent streptococcal infectionsHPOHP:0020096
- 3 of 3 reported patients
- Septic arthritisHPOHP:0003095
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Liver abscessHPOHP:0100523
- 1 of 3 reported patients
- Abnormal total B cell countHPOHP:0010975
- 0 of 1 reported patient
- Abnormal total natural killer cell countHPOHP:0040089
- 0 of 1 reported patient
- Abnormal total T cell numberHPOHP:0011839
- 0 of 1 reported patient
- Transiently decreased total neutrophil countHPOHP:0410255
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IRAK4HGNC:17967
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: immunodeficiency 67
- Also called
- immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyinvasive pneumococcal disease, recurrent isolated, 1invasive pneumococcal disease, recurrent isolated, type 1IRAK4 deficiency