WHIM syndrome 1
Findings
No curated finding names WHIM syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).
Definition from the Mondo Disease Ontology (MONDO:8000006), read 2026-09-29. CC BY 4.0.
Features
34 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 neutrophil morphologyHPOHP:0011992
- Very frequent (80% to 99% of cases)
- Bone marrow hypercellularityHPOHP:0031020
- Very frequent (80% to 99% of cases)
- Decreased total lymphocyte countHPOHP:0001888
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
- MyelokathexisHPOHP:0031160
- Very frequent (80% to 99% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- PapillomaHPOHP:0012740
- Frequent (30% to 79% of cases)
- PneumoniaHPOHP:0002090
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- Frequent (30% to 79% of cases)
- Recurrent pneumoniaHPOHP:0006532
- Frequent (30% to 79% of cases)
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- Frequent (30% to 79% of cases)
- Respiratory tract infectionHPOHP:0011947
- Frequent (30% to 79% of cases)
Show the remaining 22
- VerrucaeHPOHP:0200043
- Frequent (30% to 79% of cases)
- Abnormal small intestine morphologyHPOHP:0002244
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- BronchiectasisHPOHP:0002110
- Occasional (5% to 29% of cases)
- Cervix cancerHPOHP:0030079
- Occasional (5% to 29% of cases)
- Limb ataxiaHPOHP:0002070
- Occasional (5% to 29% 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.
- CXCR4HGNC:2561
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022