{"orpha":51636,"name":"WHIM syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["WILM","Warts-hypogammaglobulinemia-infections-myelokathexis syndrome","Warts-infections-leukopenia-myelokatexis syndrome"],"definition":"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).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51636/","orphanet_url":"https://www.orpha.net/en/disease/detail/51636","names":{"fr":{"name":"Syndrome WHIM","synonyms":["Syndrome des verrues-hypogammaglobulinémie-infections-myélokathexis","Syndrome des verrues-infections-leucopénie-myélokathexis","WILM"],"definition":"Déficit immunitaire congénital autosomique dominant caractérisé par une rétention anormale de neutrophiles matures dans la moelle osseuse (myélokathexis) et une hypogammaglobulinémie occasionnelle, associé à un risque accru d'infections bactériennes et à une susceptibilité aux lésions induites par le papillomavirus humain (PVH) (à savoir verrues cutanées, dysplasie génitale et carcinome invasif des muqueuses)."},"de":{"name":"WHIM-Syndrom","synonyms":["WILM","Warzen-Hypogammaglobulinämie-Infektionen-Myelokathexis-Syndrom"]},"es":{"name":"Síndrome WHIM","synonyms":["Síndrome de verrugas-hipogammaglobulinemia -infecciones-mielocatexis","Síndrome de verrugas-infecciones-leucopenia-mielocatexis","WILM"],"definition":"El síndrome WHIM (verrugas, hipogammaglobulinemia, infecciones y mielocatexis) es una enfermedad inmunitaria congénita autosómica dominante caracterizada por la retención anómala de los neutrófilos maduros en la médula ósea (mielocatexis) con hipogammaglobulinemia ocasional, asociado a un aumento del riesgo de infecciones bacterianas y a lesiones inducidas por la susceptibilidad al virus del papiloma humano (HPV) (verrugas cutáneas, displasia genital y carcinoma mucoso invasivo)."},"it":{"name":"Sindrome WHIM","synonyms":["Sindrome verruche-infezioni-leucopenia-mielocatessi","Sindrome verruche-ipogammaglobulinemia-infezioni-mielocatessi"],"definition":"La sindrome WHIM (verruche, ipogammaglobulinemia, infezioni, e mielocatessi) è un deficit immunitario congenito autosomico dominante caratterizzato dalla ritenzione anomala di neutrofili maturi nel midollo osseo (mielocatessi) e da occasionale ipogammaglobulinemia, associata ad un aumento del rischio di infezioni batteriche e alla suscettibilità alle lesioni indotte dal papilloma virus umano (HPV) (verruche cutanee, displasia genitale e carcinoma invasivo della mucosa)."},"nl":{"name":"WHIM-syndroom","synonyms":["Wratten - hypogammaglobulinemie - infecties - myelokathexis-syndroom","Wratten - infecties - leukopenie - myelokathexis-syndroom","WILM"],"definition":"WHIM (Wratten - hypogammaglobulinemie - infecties - myelokathexis)-syndroom is een aangeboren autosomaal dominante immuundeficiëntie die wordt gekarakteriseerd door abnormale retentie van volgroeide neutrofielen in het beenmerg (myelokathexis) en occasionele hypogammaglobulinemie, geassocieerd met een verhoogd risico op bacteriële infecties en vatbaarheid voor letsels geïnduceerd door humaan papillomavirus (HPV) (huidwratten, genitale dysplasie en invasief mucosaal carcinoom)."},"pt":{"name":"Síndrome WHIM","synonyms":["Síndrome de verrugas-hipogamaglobulinemia-infeções-mielocatexia","Síndrome de verrugas-infeções-leucopenia-mielocatexia","WILM"]},"pl":{"name":"Zespół WHIM","synonyms":["Brodawki-hipogammaglobulinemia-infekcje-mielokateksja"]},"cs":{"name":"WHIM syndrom","synonyms":["WILM","Syndrom zahrnující bradavice, hypogamaglobulinémii, infekce a myelokathexii","Syndrom zahrnující bradavice, infekce, leukopenii a myelokathexii"]},"uk":{"name":"Синдром WHIM","synonyms":["Бородавки-гіпогаммаглобулінемія-інфекції-мієлокатексичний синдром","Бородавки-інфекції-лейкопенія-мієлокатексис","WILM"],"definition":"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)."},"zh":{"name":"WHIM综合征","synonyms":["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":{"name":"WHIM sendromu","synonyms":["WILM","Siğiller-enfeksiyonlar-lökopeni-miyelokateksis sendromu","Siğiller-hipogammaglobulinemi-enfeksiyonlar-miyelokateksis sendromu"]}},"xrefs":[{"source":"OMIM","code":"193670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1379907958"},{"source":"MONDO","code":"8000006","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536697","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0472817","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9297","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]}],"children":[],"genes":[{"symbol":"CXCR4","name":"C-X-C motif chemokine receptor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"12692554[PMID]","hgnc":"2561","ensembl":"ENSG00000121966","omim":"162643","loci":["2q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":65.0,"area":"Worldwide","status":"Validated","source":"23009155[PMID]_24492099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.023,"area":"France","status":"Validated","source":"23009155[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-24","source":"21595885[PMID]_30716504[PMID]_30819232[PMID]_10767001[PMID]_2239986[PMID]","terms":[{"hpo":"HP:0011992","label":"Abnormality of neutrophil morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031020","label":"Bone marrow hypercellularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031160","label":"Myelokathexis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002244","label":"Abnormality of the small intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030079","label":"Cervix cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100750","label":"Atelectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011850","label":"Parotitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000166","label":"Severe periodontitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null}]}}