{"orpha":169154,"name":"T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["T-B+NK+ SCID due to IL-7Ralpha 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. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169154/","orphanet_url":"https://www.orpha.net/en/disease/detail/169154","names":{"fr":{"name":"Déficit immunitaire combiné sévère T-B+NK+ par déficit en IL-7Ralpha","synonyms":["Immunodéficience combinée sévère T-B+NK+ due à un déficit en IL-7Ralpha","SCID T-B+NK+ par déficit en IL-7Ralpha","DICS T-B+NK+ par déficit en IL-7Ralpha","IDCS T-B+NK+ par déficit en IL-7Ralpha"],"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). D'apparition infantile, la maladie se traduit généralement par des infections récurrentes, un retard de croissance, une fièvre, des diarrhées et une dermatite."},"de":{"name":"Immundefekt, kombinierter schwerer, T-B+NK+, durch IL-7Ralpha-Mangel","synonyms":["T-B+NK+ SCID durch IL-7Ralpha-Mangel"],"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. Die Patienten präsentieren sich im Allgemeinen im Säuglingsalter mit wiederkehrenden Infektionen, Gedeihstörung, Fieber, Durchfall und Dermatitis."},"es":{"name":"Inmunodeficiencia combinada grave T-B+NK+ por deficiencia de IL-7Ralpha","synonyms":["IDCG T-B+NK+ por deficiencia de IL-7Ralpha","SCID T-B+NK+ por deficiencia de IL-7Ralpha"],"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 incrementado de células B y células asesinas naturales (NK). Los pacientes suelen presentarse en la lactancia con infecciones recurrentes, fallo de medro, fiebre, diarrea y dermatitis."},"it":{"name":"Immunodeficienza combinata grave T-B+NK+ da deficit di IL-7Ralfa","synonyms":["SCID T-B+NK+ SCID da deficit di IL-7Ralfa"]},"nl":{"name":"T-B+NK+ ernstige gecombineerde immuundeficiëntie door IL-7Ralfa-deficiëntie","synonyms":["T-B+NK+ SCID door IL-7Ralfa-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. Patiënten presenteren zich doorgaans in de zuigelingentijd met recidiverende infecties, niet-gedijen, koorts, diarree, en dermatitis."},"pt":{"name":"Imunodeficiência combinada grave T-B+ por deficiência de IL-7R-alfa","definition":"Imunodeficiência combinada T-B+, grave, rara e caracterizada por diminuição evidente das células T e números normais ou aumentados de células B e células natural killer (NK). Habitualmente são descritas infeções recorrentes na infância, atraso de crescimento, febre, diarreia e dermatite."},"pl":{"name":"Ciężki złożony Niedobór odporności T-B+ z powodu niedoboru IL-7Ralfa","synonyms":["T-B+ SCID z powodu niedoboru IL-7Ralfa"],"definition":"Rzadki ciężki złożony niedobór odporności T-B+, charakteryzujący się znacznie zmniejszoną liczbą komórek T i prawidłową lub zwiększoną liczbą komórek B i NK. Objawy kliniczne pojawiają się zwykle w okresie niemowlęcym i obejmują nawracające infekcje, brak prawidłowego rozwoju, gorączkę, biegunkę i zapalenie skóry."},"cs":{"name":"T-B+ těžká kombinovaná imunodeficience způsobená deficitem IL-7R alfa","synonyms":["T-B+ SCID způsobená deficitem IL-7R alfa"]},"uk":{"name":"Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом IL-7Ralpha","synonyms":["Т-В+ ТКИД внаслідок дефіциту IL-7Ralpha"],"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. Patients generally present in infancy with recurrent infections, failure to thrive, fever, diarrhea, and dermatitis."},"zh":{"name":"白细胞介素7受体α缺乏所致T-B+重症联合免疫缺陷","synonyms":["IL-7α缺陷所致T-B+ SCID"]},"tr":{"name":"IL-7Ralpha eksikliğine bağlı T-B + ağır kombine immün yetmezlik","synonyms":["IL-7Ralpha eksikliğine bağlı T-B + SCID"]}},"xrefs":[{"source":"OMIM","code":"608971","qualifier":"NTBT","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":"79517655"},{"source":"MONDO","code":"0015701","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679577","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":"IL7R","name":"interleukin 7 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6024","ensembl":"ENSG00000168685","omim":"146661","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Worldwide","status":"Validated","source":"14726805[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Chile","status":"Validated","source":"33861827[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-26","source":"9843216[PMID]_25046553[PMID]_27593400[PMID]_29167666[PMID]_31379863[PMID]","terms":[{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005415","label":"Decreased proportion of CD8-positive T cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001019","label":"Erythroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100827","label":"Lymphocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025526","label":"Psoriasiform lesion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Occasional (29-5%)","criteria":null}]}}