{"orpha":447737,"name":"Combined immunodeficiency due to DOCK2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to DOCK2 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency"],"definition":"A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447737/","orphanet_url":"https://www.orpha.net/en/disease/detail/447737","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en DOCK2","synonyms":["CID par déficit en DOCK2","DIC par déficit en DOCK2","Déficit immunitaire combiné par déficit en dedicator of cytokinesis 2","Immunodéficience combinée par déficit en DOCK2"],"definition":"Déficit immunitaire combiné T et B rare, caractérisé par l'apparition précoce d'infections invasives récurrentes d'origine virale et bactérienne, associées à une lymphopénie T et B, à des déficits fonctionnels des lymphocytes T et B, à une faible réponse immunitaire et à une thrombocytopénie. Les manifestations cliniques qui varient selon le type d'agent infectieux comprennent généralement des pneumonies récurrentes, des bronchiolites, des otites moyennes, des méningo-encéphalites, des colites et des diarrhées, pouvant conduire à une défaillance multiviscérale dont l'issue, dans les cas graves, est fatale."},"de":{"name":"Kombinierter Immundefekt durch DOCK2-Mangel","synonyms":["CID durch DOCK2-Defizienz","DOCK2-Mangel"],"definition":"Ein primärer kombinierter T- und B-Zellimmundefekt, der durch das frühe Auftreten rezidivierender, invasiver viraler und bakterieller Infektionen gekennzeichnet ist, die mit T- und B-Zell-Lymphopenie, funktionellen Defekten der T- und B-Zellen, schlechter Antikörperreaktion und Thrombozytopenie einhergehen. Je nach Art des Infektionserregers sind die klinischen Symptome variabel und umfassen häufig rezidivierende Pneumonie, Bronchiolitis, Otitis media, Meningoenzephalitis, Kolitis und Durchfall, die in schweren Fällen zu tödlichem Multiorganversagen führen."},"es":{"name":"Inmunodeficiencia combinada por deficiencia de DOCK2","synonyms":["IDC por deficiencia de DOCK2","Inmunodeficiencia combinada por deficiencia de la proteína dedicada a la citocinesis 2"],"definition":"Es una inmunodeficiencia primaria combinada de células T y B poco frecuente caracterizada por infecciones virales y bacterianas invasivas y recurrentes de inicio temprano asociadas a linfopenia y defectos funcionales de las células T y B, respuesta deficiente de anticuerpos y trombocitopenia. Según el tipo de agente infeccioso, las manifestaciones clínicas variables incluyen frecuentemente neumonía recurrente, bronquiolitis, otitis media, meningoencefalitis, colitis y diarrea, conducentes a fallo multiorgánico letal en los casos más graves."},"it":{"name":"Immunodeficienza combinata da deficit di DOCK2","synonyms":["CID da deficit di DOCK2","Immunodeficienza combinata da deficit della proteina del dedicatore della citochinesi 2"],"definition":"È un'immunodeficienza primitiva rara combinata delle cellule T e B, caratterizzata da infezioni virali e batteriche invasive ricorrenti ad esordio precoce, associate a linfopenia e difetti funzionali delle cellule T e B, scarsa risposta anticorpale e trombocitopenia. Il quadro clinico varia a seconda dell'agente infettivo, e di solito comprende la polmonite ricorrente, la bronchiolite, l'otite media, la meningoencefalite, la colite e la diarrea che, nei casi più gravi, esitano nell'insufficienza multiorgano."},"nl":{"name":"Gecombineerde immuundeficiëntie door DOCK2-deficiëntie","synonyms":["CID door DOCK2-deficiëntie","Gecombineerde immuundeficiëntie door deficiëntie van 'dedicator of cytokinesis 2'-proteïne"],"definition":"Een zeldzame, primaire gecombineerde T- en B-cel-immuundeficiëntie die gekarakteriseerd wordt door vroege aanvang van recurrente, invasieve virale en bacteriële infecties geassocieerd met T- en B-cellymfopenie, functionele defecten van T- en -cellen, ondermaatse antilichaamrespons en trombocytopenie. Afhankelijk van het type van infectieus agens komen variabele klinische manifestaties, waaronder doorgaans recurrente pneumonie, bronchiolitis, middenoorontsteking, meningo-encefalitis, colitis, en diarree, die in ernstige gevallen leiden tot fataal multi-orgaanfalen."},"pt":{"name":"Imunodeficiência combinada por deficiência de DOCK2","synonyms":["CID por deficiência DOCK2","Imunodeficiência por deficiência da proteina dedicadora a citocinese 2"]},"pl":{"name":"Niedobór DOCK2","synonyms":["CID due to DOCK2 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency"]},"cs":{"name":"Deficit DOCK2","synonyms":["CID due to DOCK2 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency"]},"uk":{"name":"Комбінований імунодефіцит зумовлений дефіцитом DOCK2","synonyms":["CID через дефіцит DOCK2","Комбінований імунодефіцит, зумовлений дефіцитом білка дедікатора цитокінезу 2"],"definition":"A rare, primary combined T and B cell immunodeficiency characterized by early-onset of recurrent, invasive viral and bacterial infections associated with T and B cell lymphopenia, functional defects in T and B cells, poor antibody response and thrombocytopenia. Depending on the type of infectious agent, variable clinical manifestations commonly include recurrent pneumonia, bronchiolitis, otitis media, meningoencephalitis, colitis, and diarrhea, leading to fatal multiorgan failure in severe cases."},"zh":{"name":"DPOCK2缺乏/免疫缺陷病40型","definition":"一种罕见的原发性T细胞和B细胞联合免疫缺陷病，特征为早发性的T细胞和B细胞淋巴细胞减少相关的复发性、侵袭性病毒和细菌感染，T细胞和B细胞的功能缺陷，抗体反应不良和血小板减少。根据感染剂的类型，不同的临床表现通常包括复发性肺炎，细支气管炎，中耳炎，脑膜脑炎，结肠炎和腹泻，在严重的情况下会导致致命的多器官衰竭。"},"tr":{"name":"DOCK2 eksikliği"}},"xrefs":[{"source":"OMIM","code":"616433","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":"0014637","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925035","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12653","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]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"DOCK2","name":"dedicator of cytokinesis 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26083206[PMID]","hgnc":"2988","ensembl":"ENSG00000134516","omim":"603122","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26083206[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"26083206[PMID]"}],"phenotypes":null}