WHIM syndrome 2
MONDO:0030374Mondo
Findings
No curated finding names WHIM syndrome 2 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
- Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- Persistently decreased total neutrophil countHPOHP:0410252
- 6 of 6 reported patients
- Recurrent gingivitisHPOHP:0034284
- 4 of 4 reported patients
- MyelokathexisHPOHP:0031160
- 3 of 6 reported patients
- Severe infectionHPOHP:0032169
- 2 of 4 reported patients
- Tetralogy of FallotHPOHP:0001636
- 0 of 4 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.
- CXCR2HGNC:6027
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: WHIM syndrome 2
- Also called
- WHIMS2