{"orpha":1006,"name":"Alopecia antibody deficiency","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Ipp-Gelfand syndrome"],"definition":"A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1006/","orphanet_url":"https://www.orpha.net/en/disease/detail/1006","names":{"fr":{"name":"Syndrome d'alopécie-déficit immunitaire","definition":"Déficit immunitaire primaire rare caractérisée par l'association d'une alopécie totalis et d'un déficit immunitaire (agammaglobulinémie congénitale ou syndrome de déficit immunitaire incomplet), se manifestant par des infections récurrentes. Aucun cas n'a été décrit dans la littérature depuis 1976."},"de":{"name":"Alopezie mit Antikörper-Mangel","synonyms":["Ipp-Gelfand-Syndrom"],"definition":"Eine seltene primäre Immundefekterkrankung, die durch die Assoziation von Alopecia areata totalis und Antikörpermangel (angeborene Agammaglobulinämie oder unvollständiges Antikörpermangelsyndrom) gekennzeichnet ist und sich mit wiederkehrenden Infektionen manifestiert. Seit 1976 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Alopecia-deficiencia de anticuerpos","synonyms":["Síndrome de Ipp-Gelfand"],"definition":"Es un trastorno de inmunodeficiencia primaria poco frecuente, caracterizado por la asociación de alopecia areata total y deficiencia de anticuerpos (agammaglobulinemia congénita o síndrome de deficiencia de anticuerpos incompleto), que se manifiesta con infecciones recurrentes. No se han descrito nuevos casos en la literatura desde 1976."},"it":{"name":"Alopecia e deficit di anticorpi","definition":"L'alopecia associata a deficit degli anticorpi è un'immunodeficienza primitiva rara, caratterizzata da alopecia areata completa e deficit anticorpale (agammaglobulinemia congenita o sindrome da deficit immunitario incompleto), che si manifesta con infezioni ricorrenti. Non sono stati descritti nuovi casi dopo il 1976."},"nl":{"name":"Alopecie met antilichaamdeficiëntie","synonyms":["Syndroom van Ipp-Gelfand"],"definition":"Een zeldzame, primaire immuundeficiëntie, gekarakteriseerd door de associatie van alopecia areata totalis en antilichaamdeficiëntie (congenitale agammaglobulinemie of onvolledige antilichaamdeficiëntie-syndroom) die zich manifesteert met recurrente infecties. Sinds 1976 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Alopecia e deficiência de anticorpos","synonyms":["Síndrome Ipp-Gelfand"]},"pl":{"name":"Łysienie z niedoborem przeciwciał","synonyms":["Ipp-Gelfand syndrome"],"definition":"*Łysienie z niedoborem przeciwciał jest rzadkim, pierwotnym niedoborem odporności, który charakteryzuje się współwystępowaniem łysienia plackowatego całkowitego i niedoboru przeciwciał (wrodzona agammaglobulinemia lub zespół niepełnego niedoboru przeciwciał) i objawia nawracającymi zakażeniami. Od 1976 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Alopecie s deficitem protilátek","synonyms":["Ipp-Gelfand syndrome"]},"uk":{"name":"Дефіцит антитіл з алопецією","synonyms":["Синдром Іппа-Гельфанда"],"definition":"A rare primary immunodeficiency disorder characterized by the association of alopecia areata totalis and antibody deficiency (congenital agammaglobulinemia or incomplete antibody deficiency syndrome), manifesting with recurrent infections. There have been no further descriptions in the literature since 1976."},"zh":{"name":"脱发抗体缺乏症","synonyms":["Ipp-Gelfand综合征"]},"tr":{"name":"Alopesi antikor eksikliği","synonyms":["Ipp-Gelfand sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015082","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190867","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":101977,"name":"Immunodeficiency due to predominantly antibodies defect","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"978318[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_978318[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}