immunodeficiency 14b, autosomal recessive
MONDO:0023655Mondo
Findings
No curated finding names immunodeficiency 14b, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 2 of 2 reported patients
- Candida esophagitisHPOHP:0033351
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- ColitisHPOHP:0002583
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- Increased total monocyte countHPOHP:0012311
- 1 of 1 reported patient
- Increased total neutrophil countHPOHP:0011897
- 1 of 1 reported patient
- Inflammation of the large intestineHPOHP:0002037
- 1 of 1 reported patient
- Polyarticular arthritisHPOHP:0005764
- 1 of 1 reported patient
Show the remaining 4
- Recurrent pneumoniaHPOHP:0006532
- 2 of 2 reported patients
- Recurrent sinusitisHPOHP:0011108
- 2 of 2 reported patients
- ThrombocytosisHPOHP:0001894
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 2 reported patients
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.
- PIK3CDHGNC:8977
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 14b, autosomal recessive
- Also called
- IMD14B