immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
MONDO:0033554Mondo
Findings
No curated finding names immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Chronic bronchitisHPOHP:0004469
- 1 of 1 reported patient
- Chronic pulmonary obstructionHPOHP:0006510
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 3 reported patients
- Decreased total B cell countHPOHP:0010976
- 3 of 3 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 3 of 3 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 3 of 3 reported patients
- Decreased total T cell countHPOHP:0005403
- 3 of 3 reported patients
- Generalized lymphadenopathyHPOHP:0008940
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- Impaired neutrophil chemotaxisHPOHP:0040238
- 12 of 12 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
Show the remaining 15
- Recurrent otitis mediaHPOHP:0000403
- 1 of 3 reported patients · Juvenile onset
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 3 reported patients
- Severe varicella zoster infectionHPOHP:0032170
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 3 of 4 reported patients
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 2 of 3 reported patients
- Decreased total monocyte countHPOHP:0012312
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
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · ClinGen · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
- Also called
- IMD73B