{"orpha":476113,"name":"Combined immunodeficiency due to TFRC deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to TFRC deficiency","TFRC-related combined immunodeficiency"],"definition":"A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476113/","orphanet_url":"https://www.orpha.net/en/disease/detail/476113","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en TFRC","synonyms":["CID par déficit en TFRC","DIC par déficit en TFRC","Déficit immunitaire combiné lié à TFRC"],"definition":"Déficit immunitaire combiné en lymphocytes T et B rare d'origine génétique caractérisé par des infections potentiellement létales dues à une perturbation de l'endocytose du récepteur 1 de la transferrine, à l'origine d'un transport défectueux du fer cellulaire et d'une altération de la fonction des lymphocytes T et B. Les patients manifestent une diarrhée chronique d'apparition précoce, des infections récurrentes sévères et un retard de croissance staturo-pondéral. Les examens biologiques révèlent une hypo- ou une agammaglobulinémie, une numération lymphocytaire normale, mais une diminution du nombre de cellules B mémoire, une neutropénie et une thrombocytopénie intermittentes, ainsi qu'une anémie légère (résistante à la supplémentation en fer) et un volume globulaire moyen faible."},"de":{"name":"Kombinierter Immundefekt durch TFRC-Mangel","synonyms":["CID durch TFRC-Defekt","TFRC-assoziierter kombinierter Immundefekt"],"definition":"Ein genetisch bedingter kombinierter T- und B-Zell-Immundefekt, der durch lebensbedrohliche Infektionen aufgrund einer gestörten Endozytose des Transferrinrezeptors 1 gekennzeichnet ist, was zu einem gestörten zellulären Eisentransport und einer beeinträchtigten T- und B-Zell-Funktion führt. Die Patienten zeigen früh einsetzenden chronischen Durchfall, schwere rezidivierende Infektionen und Gedeihstörungen. Laboruntersuchungen zeigen eine Hypo- oder Agammaglobulinämie, normale Lymphozytenzahlen, aber eine verminderte Anzahl von Gedächtnis-B-Zellen, intermittierende Neutropenie und Thrombozytopenie sowie eine leichte Anämie (resistent gegen Eisensupplementierung) mit niedrigem mittleren korpuskulären Volumen."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de TFRC","synonyms":["IDC por deficiencia de TFRC","Inmunodeficiencia combinada asociada a TFRC","Inmunodeficiencia combinada asociada al gen TFRC"],"definition":"Es una inmunodeficiencia genética combinada de células T y B y poco frecuente caracterizada por infecciones potencialmente mortales debidas a la alteración de la endocitosis del receptor 1 de la transferrina, lo que ocasiona un transporte celular de hierro defectuoso y una función deficiente de las células T y B. Los pacientes presentan diarrea crónica de inicio precoz, infecciones recurrentes graves y fallo de medro. Las pruebas de laboratorio revelan hipo- o agammaglobulinemia, recuentos normales de linfocitos con disminución del número de células B de memoria, neutropenia y trombocitopenia intermitentes y anemia moderada (refractaria a la suplementación con hierro) con un volumen corpuscular medio bajo."},"it":{"name":"Immunodeficienza combinata correlata al deficit di TFRC","definition":"Si tratta di un'immunodeficienza combinata genetica rara delle cellule T e B, caratterizzata da infezioni potenzialmente letali secondarie alla compromissione dell'endocitosi del recettore 1 della transferrina, che comporta un'alterazione del trasporto cellulare del ferro e la compromissione della funzione delle cellule T e B. I pazienti presentano diarrea cronica ad esordio precoce, infezioni gravi ricorrenti e ritardo della crescita. Gli esami di laboratorio evidenziano ipogammaglobulinemia o agammaglobulinemia, un numero normale di linfociti e un numero ridotto di cellule B della memoria, neutropenia e trombocitopenia intermittenti e anemia lieve (resistente all'integrazione di ferro) con volume corpuscolare medio basso."},"nl":{"name":"Gecombineerde immuundeficiëntie door TFRC-deficiëntie","synonyms":["CID door TFRC-deficiëntie","TFRC-gerelateerde gecombineerde immuundeficiëntie"],"definition":"Een zeldzame, genetische gecombineerde T- en B cel-immuundeficiëntie, gekarakteriseerd door levensbedreigende infecties als gevolg van verstoorde endocytose van transferrinereceptor 1, wat resulteert in gebrekkig cellulair ijzertransport en functiestoornis van T- en B-cellen. Patiënten presenteren zich met vroeg aanvangende chronische diarree, ernstige recidiverende infecties, en groeifalen. Laboratoriumonderzoek toont hypo- of agammaglobulinemie, normaal aantal lymfocyten maar verminderd aantal B-geheugencellen, intermitterende neutropenie en trombocytopenie, en milde anemie (resistent tegen suppletie van ijzer) met laag gemiddeld celvolume van erytrocyten."},"pt":{"name":"Imunodeficiência combinada por deficiência de TFRC"},"pl":{"name":"Złożony niedobór odporności zależny od TFRC","synonyms":["CID due to TFRC deficiency","TFRC-related combined immunodeficiency"]},"cs":{"name":"Kombinovaný imunodeficit z deficitu TRFC","synonyms":["CID due to TFRC deficiency","TFRC-related combined immunodeficiency"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом ТФРК","synonyms":["КІД через дефіцит ТФРК","Комбінований імунодефіцит, повязаний з ТФРК"],"definition":"A rare genetic combined T and B cell immunodeficiency characterized by life-threatening infections due to disrupted transferrin receptor 1 endocytosis, resulting in defective cellular iron transport and impaired T and B cell function. Patients present with early-onset chronic diarrhea, severe recurrent infections, and failure to thrive. Laboratory studies reveal hypo- or agammaglobulinemia, normal lymphocyte counts but decreased numbers of memory B cells, intermittent neutropenia and thrombocytopenia, and mild anemia (resistant to iron supplementation) with low mean corpuscular volume."},"zh":{"name":"TFRC缺陷导致联合免疫缺陷","synonyms":["TFRC相关联合免疫缺陷"],"definition":"一种罕见的遗传性疾病合并T细胞和B细胞免疫缺陷，特征是易发危及生命的感染，原因是转铁蛋白受体1内分泌紊乱，导致细胞铁转运缺陷，T细胞和B细胞功能受损。患者早期表现为慢性腹泻、严重的反复感染、发育停滞。实验室研究显示丙种球蛋白低或缺乏血症，淋巴细胞计数正常但记忆B细胞数量减少，间歇性中性粒细胞减少和血小板减少，轻度贫血(对补铁有抵抗)，平均红细胞容积低。"},"tr":{"name":"TFRC eksikliğine bağlı kombine immün yetmezlik","synonyms":["TFRC eksikliğine bağlı CID","TFRC-ilişkili kombine immün yetmezlik"]}},"xrefs":[{"source":"OMIM","code":"616740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014760","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568133","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"TFRC","name":"transferrin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26642240[PMID]","hgnc":"11763","ensembl":"ENSG00000072274","omim":"190010","loci":["3q29"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"26642240[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26642240[PMID]"}],"phenotypes":null}