neutrophil immunodeficiency syndrome
Findings
No curated finding names neutrophil immunodeficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.
Definition from the Mondo Disease Ontology (MONDO:0011988), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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
- 1 of 1 reported patient · Neonatal onset
- Decreased neutrophil oxidative burstHPOHP:0003203
- 1 of 1 reported patient
- Delayed umbilical cord separationHPOHP:0032434
- 1 of 1 reported patient
- Impaired neutrophil chemotaxisHPOHP:0040238
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient · Neonatal onset
- Very frequent (80% to 99% of cases)
- Increased total neutrophil countHPOHP:0011897
- 1 of 1 reported patient
- 1 of 1 reported patient · Neonatal onset
Show the remaining 2
- Abnormal neutrophil physiologyHPOHP:0011990
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
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 dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Moderate · ClinGen · Autosomal dominant · 2021
- Supportive · Orphanet · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: neutrophil immunodeficiency syndrome
- Also called
- immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis