{"orpha":169157,"name":"T-B+NK+ severe combined immunodeficiency due to CD45 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B+NK+ SCID due to CD45 deficiency"],"definition":"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169157/","orphanet_url":"https://www.orpha.net/en/disease/detail/169157","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK+ par déficit en CD45","synonyms":["DICS T-B+NK+ par déficit en CD45","IDCS T-B+NK+ par déficit en CD45","Immunodéficience combinée sévère T-B+NK+ par déficit en CD45","SCID T-B+NK+ par déficit en CD45"],"definition":"Déficit immunitaire combiné sévère T-B+ rare caractérisé par une diminution marquée du nombre de lymphocytes T et par un nombre normal ou une augmentation du nombre de lymphocytes B et de cellules NK (Natural killers). Des cas d'hypogammaglobulinémie ont également été rapportés. D'apparition infantile, la maladie se traduit généralement par des infections récurrentes, un retard de croissance, une éruption cutanée, une fièvre, une hépatosplénomégalie, une lymphadénopathie et une pancytopénie."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK+, durch CD45-Mangel","synonyms":["T-B+NK+ SCID durch CD45-Defizienz"],"definition":"Eine schwerer kombinierter T-B+-Immundefekt, der durch eine deutlich verminderte Anzahl von T-Zellen und eine normale oder erhöhte Anzahl von B-Zellen und natürlichen Killerzellen (NK) gekennzeichnet ist. Es wurde auch über Hypogammaglobulinämie berichtet. Die Patienten präsentieren sich im Allgemeinen im Säuglingsalter mit wiederkehrenden Infektionen, Gedeihstörungen, Hautausschlag, Fieber, Hepatosplenomegalie, Lymphadenopathie und Panzytopenie."},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de CD45","synonyms":["IDCG T-B+NK+ por deficiencia de CD45","SCID T-B+NK+ por deficiencia de CD45"],"definition":"Es una inmunodeficiencia combinada grave T-B+ poco frecuente caracterizada por una disminución marcada del número de células T y un número normal o aumentado de células B y células asesinas naturales (NK). También se ha descrito hipogammaglobulinemia. Los pacientes suelen presentarse en la lactancia con infecciones recurrentes, fallo de medro, erupción cutánea, fiebre, hepatoesplenomegalia, linfadenopatía y pancitopenia."},"it":{"name":"Immunodeficienza combinata grave T-B+NK+ da deficit di CD45","synonyms":["SCID T-B+NK+ da deficit di CD45"]},"nl":{"name":"T-B+NK+ ernstige gecombineerde immuundeficiëntie door CD45-deficiëntie","synonyms":["T-B+NK+ SCID door CD45-deficiëntie"],"definition":"Een zeldzame T-B+ ernstige gecombineerde immuundeficiëntie, gekenmerkt door opmerkelijk verminderde aantallen T-cellen en normale of verhoogde aantallen B-cellen en 'natural killer' (NK) cellen. Hypogammaglobulinemie werd ook reeds gerapporteerd. Patiënten presenteren zich doorgaans in de zuigelingentijd met recidiverende infecties, niet-gedijen, uitslag, koorts, hepatosplenomegalie, lymfadenopathie, en pancytopenie."},"pt":{"name":"Imunodeficiência combinada grave T-B+ por deficiência de CD45","definition":"Imunodeficiência combinada T-B+, grave, rara caracterizada por diminuição evidente das células T e números normais ou aumentados de células B e células natural killer (NK). Hipogamaglobulinemia também foi descrita e habitualmente são descritas infeções recorrentes na infância, atraso de crescimento, erupção cutânea, febre, hepatoesplenomegalia, linfadenopatia e pancitopenia."},"pl":{"name":"Ciężki złożony Niedobór odporności T-B+ z powodu niedoboru CD45","synonyms":["T-B+ SCID z powodu niedoboru CD45"],"definition":"Rzadki ciężki złożony niedobór odporności T-B+, charakteryzujący się znacznie zmniejszoną liczbą komórek T i prawidłową lub zwiększoną liczbą komórek B i NK. Może wystąpić hipogammaglobulinemia. Choroba rozwija się na ogół w okresie niemowlęcym i obejmuje nawracające infekcje, brak prawidłowego rozwoju, wysypkę, gorączkę, powiększenie wątroby i śledziony, powiększeniem węzłów chłonnych i pancytopenię."},"cs":{"name":"T-B+ těžká kombinovaná imunodeficience způsobená deficitem CD45","synonyms":["T-B+ SCID způsobená deficitem CD45"]},"uk":{"name":"Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом CD45","synonyms":["Т-В+ ТКИД внаслідок дефіциту CD45"],"definition":"A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia."},"zh":{"name":"CD45因子缺乏所致T-B+重症联合免疫缺陷","synonyms":["CD45缺乏所致T-B+ SCID"]},"tr":{"name":"CD45 eksikliğine bağlı T-B + ağır kombine immün yetmezlik","synonyms":["CD45 eksikliğine bağlı T-B + SCID"]}},"xrefs":[{"source":"OMIM","code":"619924","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"218521812"},{"source":"MONDO","code":"0015702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679579","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":720280,"name":"T-B+NK+ severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"PTPRC","name":"protein tyrosine phosphatase receptor type C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11145714[PMID]","hgnc":"9666","ensembl":"ENSG00000081237","omim":"151460","loci":["1q31.3-q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9068311[PMID]_10700239[PMID]_22689986[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"9068311[PMID]_10700239[PMID]_22689986[PMID]"}],"phenotypes":null}