{"orpha":445018,"name":"Syndromic autoimmune enteropathy due to LRBA deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein"],"definition":"A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-445018/","orphanet_url":"https://www.orpha.net/en/disease/detail/445018","names":{"fr":{"name":"Entéropathie autoimmune syndromique par déficit en LRBA","synonyms":["Entéropathie autoimmune syndromique par déficit en protéine MPS responsive beige-like anchor protein"],"definition":"Déficit immunitaire primaire rare, d'origine génétique, caractérisé par l'apparition précoce d'infections respiratoires récurrentes et d'une combinaison variable de maladies auto-immunes, à savoir anémie hémolytique, purpura thrombocytopénique, maladie lymphoproliférative, maladie intestinale inflammatoire, colite, diabète, arthrite et dermatite. Un retard de croissance staturo-pondérale, une hépatosplénomégalie et des troubles endocriniens ont également été associés. Parmi les caractéristiques immunologiques variables figurent une diminution du nombre de cellules régulatrices T CD4+ et B et une hypogammaglobulinémie."},"de":{"name":"Syndromale autoimmune Enteropathie durch LRBA-Mangel","synonyms":["LRBA-Defizienz"],"definition":"Eine seltene, genetisch bedingte, primäre Immunschwäche, die durch den frühen Ausbruch wiederkehrender Atemwegsinfekte und eine variabler Kombination von Autoimmunerkrankungen, einschließlich hämolytischer Anämie, thrombozytopenischer Purpura, lymphoproliferativer Erkrankungen, entzündlicher Darmerkrankungen, Colitis, Diabetes, Arthritis und Dermatitis, gekennzeichnet ist. Gedeihstörung, Hepatosplenomegalie und endokrine Anomalien werden ebenfalls beobachtet. Zu den variablen immunologischen Befunden gehören ein Mangel an CD4+ T-Regulationszellen, verminderte B-Zellen und eine Hypogammaglobulinämie."},"es":{"name":"Enteropatía autoinmune sindrómica por deficiencia de LRBA","synonyms":["Enteropatía autoinmune sindrómica por deficiencia de proteína de anclaje de tipo beige sensible a LPS"],"definition":"Es una inmunodeficiencia primaria, genética y poco frecuente, caracterizada por el inicio temprano de infecciones respiratorias recurrentes y una combinación variable de trastornos autoinmunes, que incluyen anemia hemolítica, púrpura trombocitopénica, enfermedad linfoproliferativa, enfermedad inflamatoria intestinal, colitis, diabetes, artritis y dermatitis. También se ha asociado con fallo de medro, hepatoesplenomegalia y anomalías endocrinas. Los hallazgos inmunológicos variables incluyen deficiencia de células reguladoras T CD4 +, disminución de células B e hipogammaglobulinemia."},"it":{"name":"Enteropatia autoimmune sindromica da deficit di LRBA","synonyms":["Enteropatia autoimmune sindromica correlata alla proteina ancora simil-beige rispondente a LPS"],"definition":"È un'immunodeficienza primitiva genetica rara, caratterizzata da infezioni respiratorie ricorrenti ad esordio precoce, variabilmente associate alle malattie autoimmuni, compresa l'anemia emolitica, la porpora trombocitopenica, le malattie linfoproliferative, la malattia infiammatoria dell'intestino, la colite, il diabete, l'artrite e la dermatite. Può associarsi a ritardo della crescita, epatosplenomegalia ed anomalie endocrine. I test immunologici evidenziano un deficit delle cellule T regolatorie CD4+, una diminuzione delle cellule B ed ipogammaglobulinemia."},"nl":{"name":"Syndromale auto-immune enteropathie door LRBA-deficiëntie","synonyms":["Syndromale auto-immune enteropathie door deficiëntie van LPS-responsief beige-achtig ankerproteïne","Syndromale auto-immune enteropathie door deficiëntie van 'LPS responsive beige-like anchor protein'"],"definition":"Een zeldzame, genetische, primaire immuundeficiëntie gekarakteriseerd door vroege aanvang van recurrente respiratoire infecties en een variabele combinatie van auto-immuunziekten, waaronder hemolytische anemie, trombocytopenische purpura, lymfoproliferatieve ziekte, inflammatoire darmziekte, colitis, diabetes, artritis, en dermatitis. Groeiachterstand, hepatosplenomegalie en endocriene afwijkingen werden ook reeds geassocieerd. Variabele immunologische bevindingen zijn onder meer deficiëntie van CD4+ regulatorische T-cellen, vermindering van het aantal B-cellen, en hypogammaglobulinemie."},"pt":{"name":"Imunodeficiência combinada por défice de LRBA"},"pl":{"name":"Złożony Niedobór odporności spowodowany niedoborem LRBA","synonyms":["CID spowodowany niedoborem LRBA"]},"cs":{"name":"Kombinovaný imunodeficit způsobený deficitem LRBA","synonyms":["CID způsobená deficitem LRBA"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом LRBA","synonyms":["КІД через дефіцит LRBA"],"definition":"A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia."},"zh":{"name":"LRBA缺陷相关联合免疫缺陷病","synonyms":["LRBA缺乏导致的CID"],"definition":"罕见的遗传性原发性免疫缺陷病，特征在于早期反复发作的呼吸道感染和自身免疫性疾病的可变组合，包括溶血性贫血，血小板减少性紫癜，淋巴增生性疾病，炎性肠病，结肠炎，糖尿病，关节炎和皮炎。也可出现发育迟滞，肝脾肿大和内分泌异常。免疫学发现包括CD4 + 调节T细胞不足，B细胞减少和低血球蛋白血症。"},"tr":{"name":"LRBA eksikliğine bağlı kombine immün yetmezlik","synonyms":["LRBA eksikliğine bağlı CID"]}},"xrefs":[{"source":"OMIM","code":"614700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1230532702"},{"source":"MONDO","code":"0013863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3553512","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13565","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183643,"name":"Genetic polyendocrinopathy","classifications":[156]},{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]},{"orpha":101956,"name":"Polyendocrinopathy","classifications":[193]},{"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":"LRBA","name":"LPS responsive beige-like anchor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22608502[PMID]_25468195[PMID]","hgnc":"1742","ensembl":"ENSG00000198589","omim":"606453","loci":["4q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"22721650[PMID]_22981790[PMID]_25468195[PMID]_26206937[PMID]_22608502[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22721650[PMID]_22981790[PMID]_25468195[PMID]_26206937[PMID]_22608502[PMID]"}],"phenotypes":null}