immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
MONDO:0033555Mondo
Findings
No curated finding names immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 2 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 2 of 2 reported patients
- Decreased total B cell countHPOHP:0010976
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 2 reported patients · Infantile onset
- Failure to thrive in infancyHPOHP:0001531
- 1 of 2 reported patients · Infantile onset
- UrticariaHPOHP:0001025
- 1 of 2 reported patients · Juvenile onset
- Cervical lymphadenopathyHPOHP:0025289
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.
- RAC2HGNC:9802
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- Also called
- IMD73C