WHIM syndrome
Synonyms: WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome · Warts-infections-leukopenia-myelokatexis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is 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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | WHIM syndrome | WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome · Warts-infections-leukopenia-myelokatexis syndrome |
| fr | Syndrome WHIM | Syndrome des verrues-hypogammaglobulinémie-infections-myélokathexis · Syndrome des verrues-infections-leucopénie-myélokathexis · WILM |
| de | WHIM-Syndrom | WILM · Warzen-Hypogammaglobulinämie-Infektionen-Myelokathexis-Syndrom |
| es | Síndrome WHIM | Síndrome de verrugas-hipogammaglobulinemia -infecciones-mielocatexis · Síndrome de verrugas-infecciones-leucopenia-mielocatexis · WILM |
| it | Sindrome WHIM | Sindrome verruche-infezioni-leucopenia-mielocatessi · Sindrome verruche-ipogammaglobulinemia-infezioni-mielocatessi |
| nl | WHIM-syndroom | Wratten - hypogammaglobulinemie - infecties - myelokathexis-syndroom · Wratten - infecties - leukopenie - myelokathexis-syndroom · WILM |
| pt | Síndrome WHIM | Síndrome de verrugas-hipogamaglobulinemia-infeções-mielocatexia · Síndrome de verrugas-infeções-leucopenia-mielocatexia · WILM |
| pl | Zespół WHIM | Brodawki-hipogammaglobulinemia-infekcje-mielokateksja |
| cs | WHIM syndrom | WILM · Syndrom zahrnující bradavice, hypogamaglobulinémii, infekce a myelokathexii · Syndrom zahrnující bradavice, infekce, leukopenii a myelokathexii |
| uk | Синдром WHIM | Бородавки-гіпогаммаглобулінемія-інфекції-мієлокатексичний синдром · Бородавки-інфекції-лейкопенія-мієлокатексис · WILM |
| zh | WHIM综合征 | 疣-低丙种球蛋白血症-反复呼吸道感染-粒细胞缺乏综合征 |
| tr | WHIM sendromu | WILM · Siğiller-enfeksiyonlar-lökopeni-miyelokateksis sendromu · Siğiller-hipogammaglobulinemi-enfeksiyonlar-miyelokateksis sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193670 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.Y | NTBT | index | validated |
| MONDO | 8000006 | E | validated | |
| MeSH | C536697 | E | validated | |
| UMLS | C0472817 | E | validated | |
| GARD | 9297 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CXCR4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2561 | ENSG00000121966 | 162643 | 2q22.1 | C-X-C motif chemokine receptor 4 | 12692554[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 65 cases | Worldwide | Case(s) | Validated | 23009155[PMID]_24492099[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.023 / 100 000 | France | Value and class | Validated | 23009155[PMID]_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2019-05-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011992 | Abnormality of neutrophil morphology | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001888 | Lymphopenia | |
| HP:0031160 | Myelokathexis | |
| Frequent (79-30%) | ||
| HP:0004313 | Decreased circulating antibody level | |
| HP:0012740 | Papilloma | |
| HP:0002090 | Pneumonia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0011947 | Respiratory tract infection | |
| HP:0200043 | Verrucae | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002244 | Abnormality of the small intestine | |
| HP:0002110 | Bronchiectasis | |
| HP:0030079 | Cervix cancer | |
| HP:0002070 | Limb ataxia | |
| HP:0000388 | Otitis media | |
| HP:0025439 | Pharyngitis | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002172 | Postural instability | |
| HP:0000246 | Sinusitis | |
| HP:0001636 | Tetralogy of Fallot | |
| Very rare (<4-1%) | ||
| HP:0100750 | Atelectasis | |
| HP:0100658 | Cellulitis | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0002840 | Lymphadenitis | |
| HP:0001287 | Meningitis | |
| HP:0011850 | Parotitis | |
| HP:0001250 | Seizure | |
| HP:0100806 | Sepsis | |
| HP:0000166 | Severe periodontitis | |
| HP:0001045 | Vitiligo | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21595885[PMID]_30716504[PMID]_30819232[PMID]_10767001[PMID]_2239986[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51636
- This record as JSON: /data/d/51636.json