{"orpha":83471,"name":"T-cell immunodeficiency with thymic aplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated aplasia/hypoplasia of the thymus","Isolated congenital athymia","Isolated congenital thymic aplasia/hypoplasia","Isolated thymic defect due to thymic aplasia/hypoplasia","Nezelof syndrome"],"definition":"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83471/","orphanet_url":"https://www.orpha.net/en/disease/detail/83471","names":{"fr":{"name":"Déficit immunitaire en lymphocytes T avec aplasie du thymus","synonyms":["Anomalie thymique isolée due à une aplasie/hypoplasie thymique","Aplasie/hypoplasie isolée du thymus","Aplasie/hypoplasie thymique congénitale isolée","Athymie congénitale isolée","Syndrome de Nezelof"],"definition":"Déficit immunitaire primaire rare à transmission autosomique ou récessive liée à l'X, caractérisé par une atrophie du thymus en l'absence d'autres anomalies congénitales, avec un déficit profond en lymphocytes T, alors que les taux d'immunoglobulines sériques sont normaux ou au-dessus de la normale. Les patients présentent des infections chroniques ou récurrentes dans la petite enfance, notamment des candidoses, des infections cutanées, pulmonaires et urinaires, des diarrhées chroniques et un retard de croissance."},"de":{"name":"T-Zell-Immundefekt mit Thymusaplasie","synonyms":["Isolierte Aplasie/Hypoplasie des Thymus","Isolierte angeborene Thymusaplasie/Hypoplasie","Isolierte kongenitale Athymie","Isolierter Thymusdefekt aufgrund von Thymusaplasie/Hypoplasie","Nezelof-Syndrom","TIDTA"],"definition":"Ein seltener primärer Immundefekt mit autosomal-rezessivem oder X-chromosomal-rezessivem Erbgang, gekennzeichnet durch eine Atrophie des Thymus bei Fehlen anderer angeborener Anomalien und einem ausgeprägten Mangel an T-Zellen bei normalen oder erhöhten Immunglobulinwerten im Serum. Die Patienten leiden im Säuglingsalter an chronischen oder wiederkehrenden Infektionen wie Candidose, Haut-, Lungen- und Harnwegsinfektionen, chronischer Diarrhoe und Gedeihstörungen."},"es":{"name":"Inmunodeficiencia de células T con aplasia tímica","synonyms":["Aplasia/hipoplasia aislada del timo","Aplasia/hipoplasia tímica congénita aislada","Atimia congénita aislada","Defecto tímico aislado debido a aplasia/hipoplasia del timo","Síndrome de Nezelof"],"definition":"Es una inmunodeficiencia primaria poco frecuente con un patrón de herencia recesivo ligado al cromosoma X o autosómico. Está caracterizada por atrofia del timo en ausencia de otras anomalías congénitas, con una profunda deficiencia de células T, mientras que los niveles de inmunoglobulinas séricas son normales o elevados. Los pacientes se presentan con infecciones crónicas o recurrentes en la infancia temprana, tales como candidiasis, infecciones cutáneas, pulmonares y del tracto urinario, así como con diarrea crónica y fallo de medro."},"it":{"name":"Immunodeficienza dei linfociti T con aplasia del timo","synonyms":["Aplasia/ipoplasia congenita isolata del timo","Difetto isolato del timo da aplasia/ipoplasia timica","Sindrome di Nezelof","Aplasia/ipoplasia isolata del timo","Atimia congenita isolata"],"definition":"Si tratta di un'immunodeficienza primitiva rara, a trasmissione autosomica o recessiva legata all'X, caratterizzata da atrofia del timo, in assenza di altre anomalie congenite, e grave deficit delle cellule T, mentre i livelli delle immunoglobuline nel siero sono normali o aumentati. Durante l'infanzia, i pazienti presentano infezioni croniche o ricorrenti (candidiasi, infezioni cutanee, polmonari e delle vie urinarie), diarrea cronica, e ritardo dello sviluppo."},"nl":{"name":"T-cel-immuundeficiëntie met aplasie van thymus","synonyms":["Geïsoleerd thymusdefect door aplasie/hypoplasie van thymus","Geïsoleerde aplasie/hypoplasie van thymus","Geïsoleerde congenitale aplasie/hypoplasie van thymus","Geïsoleerde congenitale athymie","Syndroom van Nezelof"],"definition":"Een zeldzame, primaire immuundeficiëntie met autosomale of X-gebonden recessieve overerving, gekarakteriseerd door atrofie van de thymus in afwezigheid van andere congenitale anomalieën en met zware deficiëntie van T-cellen, terwijl immunoglobulinegehaltes in serum normaal of verhoogd zijn. Patiënten presenteren zich met chronische of terugkerende infecties in de zuigelingentijd, waaronder candidiasis en infecties van huid, long en urinewegstelsel, chronische diarree, en groeifalen."},"pt":{"name":"Imunodeficiência de células T por aplasia do timo","synonyms":["Síndrome Nezelof","TIDTA"]},"pl":{"name":"Aplazja grasicy","synonyms":["Zespół Nezelofa","Niedobór odporności zależnej od limfocytów T z aplazją grasicy"]},"cs":{"name":"Aplázie thymu","synonyms":["Nezelofův syndrom"]},"uk":{"name":"Т-клітинний імунодефіцит з аплазією тимуса","synonyms":["Синдром Незелофа","TIDTA"],"definition":"A rare primary immunodeficiency with autosomal or X-linked recessive inheritance, characterized by thymic aplasia in the absence of other congenital abnormalities, with profound T-cell deficiency, while serum immunoglobulin levels are normal or increased. Patients present with chronic or recurrent infections in infancy including candidiasis, skin, pulmonary and urinary tract infections, chronic diarrhea, and failure to thrive."},"zh":{"name":"胸腺发育不全","synonyms":["Nezelof综合征"]},"tr":{"name":"Timik aplazi","synonyms":["Nezelof sendromu"]}},"xrefs":[{"source":"OMIM","code":"242700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0009451","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536288","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":179006,"name":"Primary immunodeficiency due to a defect in adaptive immunity","classifications":[156,195]}],"children":[],"genes":[{"symbol":"FOXN1","name":"forkhead box N1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Not yet assessed","source":"31566583[PMID]","hgnc":"12765","ensembl":"ENSG00000109101","omim":"600838","loci":["17q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-06","source":"32922396[PMID]_33987750[PMID]_29763203[PMID]","terms":[{"hpo":"HP:0005359","label":"Aplasia of the thymus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0005374","label":"Cellular immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031381","label":"Decreased lymphocyte proliferation in response to mitogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005403","label":"Decreased total T cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031397","label":"Reduced proportion of naive T cells","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005352","label":"Severe T-cell immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031690","label":"Opportunistic infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031691","label":"Severe viral infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200122","label":"Atypical or prolonged hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005387","label":"Combined immunodeficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004844","label":"Coombs-positive hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003472","label":"Hypocalcemic tetany","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020101","label":"Invasive fungal infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031430","label":"Oligoclonal T cell expansion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002726","label":"Recurrent Staphylococcus aureus infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005366","label":"Recurrent streptococcus pneumoniae infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null}]}}