WHIM syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS Warts-hypogammaglobulinemia-infections-myelokathexis |
| Number of Symptoms | 15 |
| OrphanetNr: | 51636 |
| OMIM Id: |
193670
|
| ICD-10: |
D81.8 |
| UMLs: |
C0472817 |
| MeSH: |
C536697 |
| MedDRA: |
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| Snomed: |
234571003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 40 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional neutropenia with extra-haematopoietic manifestations
-Rare genetic disease -Rare immune disease Other immunodeficiency syndromes due to defects in innate immunity -Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0000055) | Abnormality of female external genitalia | 5 / 7739 | ||||
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(HPO:0000008) | Abnormality of female internal genitalia | 3 / 7739 | ||||
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(HPO:0002788) | Recurrent upper respiratory tract infections | 31 / 7739 | ||||
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(HPO:0200043) | Verrucae | 11 / 7739 | ||||
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(HPO:0004315) | IgG deficiency | 38 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0004313) | Decreased antibody level in blood | 47 / 7739 | ||||
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(HPO:0005561) | Abnormality of bone marrow cell morphology | 11 / 7739 | ||||
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(OMIM) | Hypermature neutrophils have condensed nuclei connected by long, stringy filaments and vacuolated cytoplasm | 1 / 7739 | ||||
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(OMIM) | Myelokathexis (retention of neutrophils in the bone marrow) | 1 / 7739 | ||||
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(OMIM) | Bone marrow hypercellularity | 1 / 7739 | ||||
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(OMIM) | Chronic human papillomavirus (HPV) infection | 1 / 7739 | ||||
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(OMIM) | Verrucae (warts), multiple | 1 / 7739 | ||||
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(OMIM) | Vulval condylomata acuminata | 1 / 7739 | ||||
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(OMIM) | Cervical papillomatosis with cervical dysplasia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Wetzler et al. (1990) described a family in which 2 sisters and their father had a combination of chronic papillomavirus and bacterial sinopulmonary infections, low immunoglobulin levels, and peripheral neutropenia in the face of bone marrow hypercellularity, shift ... |
| Molecular genetics OMIM |
In affected members of 4 pedigrees with WHIM syndrome, Hernandez et al. (2003) identified a truncating mutation in the cytoplasmic tail domain of the gene encoding chemokine receptor-4 (CXCR4; 162643.0001). One of these pedigrees demonstrated apparent recessive inheritance ... |