{"orpha":436159,"name":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALPS due to CTLA4 haploinsuffiency","CHAI","CTLA-4 haploinsufficiency with autoimmune infiltration disease"],"definition":"A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436159/","orphanet_url":"https://www.orpha.net/en/disease/detail/436159","names":{"fr":{"name":"Syndrome lymphoprolifératif auto-immun dû à une haploinsuffisance de CTLA-4","synonyms":["ALPS dû à une haploinsuffisance de CTLA-4","CHAI","SLAI dû à une haploinsuffisance de CTLA-4"],"definition":"Déficit immunitaire primaire rare caractérisé par une association variable d'entéropathie, d'hypogammaglobulinémie, d'infections respiratoires récurrentes, de pneumopathie interstitielle lymphocytaire granulomateuse, d'infiltration lymphocytaire d'organes non lymphoïdes (intestin, poumon, cerveau, moelle osseuse, rein), de thrombocytopénie ou de neutropénie auto-immune, d'anémie hémolytique auto-immune et de lymphadénopathie."},"de":{"name":"Autoimmun-lymphoproliferatives Syndrom durch CTLA4-Haploinsuffizienz","synonyms":["ALPS durch CTLA4-Haploinsuffizienz","CHAI","CTLA4-Haploinsuffizienz mit Störung der autoimmunen Infiltration"],"definition":"Eine seltene, primäre Immunschwäche, die durch eine variable Kombination aus Enteropathie, Hypogammaglobulinämie, wiederkehrenden Atemwegsinfekten, granulomatöser lymphatischer interstitieller Lungenerkrankung, lymphozytärer Infiltration nicht-lymphoider Organe (Darm, Lunge, Gehirn, Knochenmark, Niere), autoimmuner Thrombozytopenie oder Neutropenie, autoimmuner hämolytischer Anämie und Lymphadenopathie gekennzeichnet ist."},"es":{"name":"Síndrome linfoproliferativo autoinmune por haploinsuficiencia de CTLA4","synonyms":["ALPS por una haploinsuficiencia CTLA4","CHAI","Haploinsuficiencia CTLA-4 con enfermedad de infiltración autoinmune"],"definition":"Es una inmunodeficiencia primaria poco frecuente que se caracteriza por una combinación variable de enteropatía, hipogammaglobulinemia, infecciones respiratorias recurrentes, enfermedad pulmonar intersticial granulomatosa-linfocítica, infiltración linfocítica de órganos no linfoides (intestino, pulmón, cerebro, médula ósea, riñón), trombocitopenia o neutropenia autoinmune, anemia hemolítica autoinmune y linfadenopatía."},"it":{"name":"Sindrome linfoproliferativa autoimmune da aploinsufficienza di CTLA4","synonyms":["ALPS da aploinsufficienza di CTLA4","ALPS, tipo 5","ALPS, tipo V","Aploinsufficienza di CTLA-4 con malatttia infiltrativa autoimmune","CHAI","Sindrome linfoproliferativa autoimmune, tipo 5","Sindrome linfoproliferativa autoimmune, tipo V"],"definition":"La sindrome linfoproliferativa autoimmune da aploinsufficienza di CTLA4 è un'immunodeficienza primitiva rara, caratterizzata da enteropatia, ipogammaglobulinemia, infezioni respiratorie ricorrenti, pneumopatia interstiziale linfocitaria granulomatosa, infiltrazione linfocitaria degli organi non linfoidi (intestino, polmoni, cervello, midollo osseo, reni), trombocitopenia o neutropenia autoimmune, anemia emolitica autoimmune e linfoadenopatia."},"nl":{"name":"Auto-immuun lymfoproliferatief syndroom door CTLA4-haploinsufficiëntie","synonyms":["ALPS door CTLA4-haploinsufficiëntie","CHAI","CTLA4-haploinsufficiëntie met auto-immune infiltratieziekte"],"definition":"Een zeldzame, primaire immuundeficiëntie, gekarakteriseerd door een variabele combinatie van enteropathie, hypogammaglobulinemie, terugkerende respiratoire infecties, granulomateuze lymfocytaire interstitiële longziekte, lymfocytaire infiltratie van niet-lymfoïde organen (darm, long, hersenen, beenmerg, nier), auto-immune trombocytopenie of neutropenie, auto-immune hemolytische anemie en lymfadenopathie."},"pt":{"name":"Síndrome linfoproliferativo autoimune por haploinsuficiência CTLA4"},"pl":{"name":"Autoimmunizacyjny zespół limfoproliferacyjny spowodowany haploinsuficjencją CTLA4","synonyms":["ALPS spowodowany haploinsuficjencją CTLA4","ALPS typu 5","ALPS typu V","Autoimmunizacyjny zespół limfoproliferacyjny typu 5","Autoimmunizacyjny zespół limfoproliferacyjny typu V","CHAI","Haploinsuficjencja CTLA-4 z autoimmunologiczną chorobą naciekową"],"definition":"*Autoimmunizacyjny zespół limfoproliferacyjny spowodowany haploinsuficjencją CTLA4 jest rzadkim, pierwotnym niedoborem odporności, który charakteryzuje się zmienną kombinacją zaburzeń takich jak enteropatia, hipogammaglobulinemia, nawracające infekcje dróg oddechowych, ziarniniakowa limfocytarna choroba śródmiąższowa płuc, naciek limfocytarny narządów innych niż limfoidalne (jelita, płuca, mózg, szpik, nerki), autoimmunologiczna małopłytkowość lub neutropenia, autoimmunologiczna niedokrwistość hemolityczna i limfadenopatia."},"cs":{"name":"Autoimunitní lymfoproliferativní syndrom způsobený CTLA4 haploinsuficiencí","synonyms":["ALPS, typ 5","ALPS, typ V","Autoimunitní lymfoproliferativní syndrom, typ 5","CHAI","ALPS způsobený CTLA4 haploinsuficiencí","CTLA-4 haploinsuficience s autoimunitním infiltračním onemocněním"]},"uk":{"name":"Аутоімунний лімфопроліферативний синдром, зумовлений гаплонедостатністю CTLA4","synonyms":["ALPS внаслідок гаплонедостатності CTLA4","CHAI","CTLA-4 гаплонедостатність з аутоімунною інфільтративною хворобою"],"definition":"A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy."},"zh":{"name":"CTLA4单倍剂量不足所致自身免疫性淋巴增生综合征","synonyms":["CTLA-4单倍体剂量不足合并自身免疫性浸润性疾病"],"definition":"罕见的原发性免疫缺陷，其表现为肠病，低球蛋白血症，反复呼吸道感染，肉芽肿性淋巴细胞间质性肺病，非淋巴器官（肠，肺，脑，骨髓，肾）的淋巴细胞浸润，自身免疫性血小板减少症或中性粒细胞减少症，自身免疫性溶血性贫血和淋巴结肿大。"},"tr":{"name":"CTLA4 haployetmezliğe bağlı otoimmün lenfoproliferatif sendrom","synonyms":["CHAI","CTLA4 haplo yetersizliğine bağlı ALPS","Otoimmün infiltrasyon hastalığı ile seyreden CTLA-4 haployetmezliği"]}},"xrefs":[{"source":"OMIM","code":"616100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"676676059"},{"source":"MONDO","code":"0014493","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015214","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12316","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":522043,"name":"Syndromic autoimmune enteropathy","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"CTLA4","name":"cytotoxic T-lymphocyte associated protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25213377[PMID]","hgnc":"2505","ensembl":"ENSG00000163599","omim":"123890","loci":["2q33.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"25213377[PMID]_25329329[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25213377[PMID]_25329329[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-12-01","source":"35154081[PMID]_29729943[PMID]","terms":[{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002582","label":"Atrophic gastritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100280","label":"Crohn's disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032216","label":"Lymphocytic infiltration of the colorectal mucosa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100653","label":"Optic neuritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012410","label":"Pure red cell aplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}