{"orpha":505227,"name":"Combined immunodeficiency due to GINS1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID due to GINS1 deficiency","Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia","Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"],"definition":"A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-505227/","orphanet_url":"https://www.orpha.net/en/disease/detail/505227","names":{"fr":{"name":"Déficit immunitaire combiné par déficit en GINS1","synonyms":["CID par déficit en GINS1","DIC par déficit en GINS1","Déficit immunitaire combiné avec retard de croissance intra-utérin-déficit en cellules NK-neutropénie","Immunodéficience combinée par déficit en GINS1"],"definition":"Syndrome avec déficit immunitaire combiné caractérisé par un retard de croissance intra-utérin et postnatal, une neutropénie chronique et une absence des cellules natural killer (NK) due à un défaut de réplication de l'ADN entraînant un blocage de la différenciation des cellules immunitaires dans la moelle osseuse, affectant particulièrement les cellules NK. Les autres caractéristiques cliniques comprennent des infections virales et bactériennes récurrentes et de l'eczéma, ainsi qu'une légère dysmorphie faciale."},"de":{"name":"Immundefekt, kombinierter, durch GINS1-Mangel","synonyms":["CID durch GINS1-Defizienz","CID durch GINS1-Mangel","Kombinierter Immundefekt mit intrauteriner Wachstumsverzögerung, NK-Zellen-Mangel und Neutropenie","Kombinierter Immundefekt mit intrauteriner Wachstumsverzögerung, Natürliche Killer-Zellen-Mangel und Neutropenie"],"definition":"Ein seltenes Syndrom mit kombinierter Immundefizienz, das durch intrauterine und postnatale Wachstumsverzögerung, chronische Neutropenie und Mangel an natürlichen Killerzellen (NK) gekennzeichnet ist. Dies ist auf einen Defekt in der DNA-Replikation zurückzuführen, der zu einer Blockade der Immunzelldifferenzierung im Knochenmark führt und insbesondere die NK-Zellen betrifft. Weitere klinische Merkmale sind wiederkehrende virale und bakterielle Infektionen und Ekzeme sowie leichte Gesichtsdysmorphien."},"es":{"name":"Inmunodeficiencia combinada grave por deficiencia de GINS1","synonyms":["IDC por deficiencia de GINS1","Inmunodeficiencia combinada con retraso del crecimiento intrauterino-deficiencia de células NK-neutropenia","Inmunodeficiencia combinada con retraso del crecimiento intrauterino-deficiencia de células natural killer-neutropenia"],"definition":"Es un síndrome poco frecuente de inmunodeficiencia combinada que se caracteriza por retraso del crecimiento intrauterino y posnatal, neutropenia crónica y deficiencia de células asesinas naturales (NK) debido a un defecto en la replicación del ADN que conduce al arresto de la diferenciación de las células inmunitarias en la médula ósea y que afecta particularmente a las células NK. Otras características clínicas incluyen infecciones virales y bacterianas recurrentes y eccema, así como leve dismorfia facial."},"it":{"name":"Immunodeficienza combinata da deficit di GINS1","definition":"Si tratta di una malattia rara di immunodeficienza combinata, caratterizzata dal ritardo della crescita pre- e postnatale, neutropenia cronica e deficit delle cellule natural killer (NK) secondari ad un difetto nella replicazione del DNA, che causa il blocco della differenziazione delle cellule immunitarie nel midollo osseo, che interessa in particolare le cellule NK. Altri segni clinici sono le infezioni virali e batteriche ricorrenti, l'eczema e i dismorfismi facciali sfumati."},"nl":{"name":"Gecombineerde immuundeficiëntie door GINS1-deficiëntie","synonyms":["CID door GINS1-deficiëntie","Gecombineerde immuundeficiëntie met intra-uteriene groeiretardatie - NK-celdeficiëntie - neutropenie","Gecombineerde immuundeficiëntie met intra-uteriene groeiretardatie - deficiëntie van natuurlijke killercellen - neutropenie"],"definition":"Een zeldzaam syndroom met gecombineerde immuundeficiëntie, gekarakteriseerd door intra-uteriene en postnatale groeiretardatie, chronische neutropenie, en deficiëntie van 'natural killer' (NK)-cellen door een defect van DNA-replicatie dat leidt tot blokkade van differentiatie van immuuncellen in beenmerg en vooral NK-cellen treft. Overige klinische kenmerken zijn onder meer recidiverende virale en bacteriële infecties en eczeem, alsook milde faciale dysmorfie."},"pt":{"name":"Imunodeficiência combinada por deficiência de GINS1"},"pl":{"name":"Złożony niedobór odporności z powodu niedoboru GINS1","synonyms":["CID due to GINS1 deficiency","Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia","Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"]},"cs":{"name":"Kombinovaná imunodeficience způsobená deficitem GINS1","synonyms":["CID způsobená deficitem GINS1","Kombinovaná imunodeficience zahrnující nitroděložní růstovou retardaci, deficit NK buněk a neutropenii"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений дефіцитом GINS1","synonyms":["КІД через дефіцит GINS1","Комбінований імунодефіцит із затримкою внутрішньоутробного розвитку - дефіцитом природних кілерів - нейтропенією","Комбінований імунодефіцит із затримкою внутрішньоутробного розвитку - дефіцитом НК-клітин - нейтропенією"],"definition":"A rare syndrome with combined immunodeficiency characterized by intrauterine and postnatal growth retardation, chronic neutropenia, and natural killer (NK) cell deficiency due a defect in DNA replication leading to blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells. Other clinical features include recurrent viral and bacterial infections and eczema, as well as mild facial dysmorphism."},"zh":{"name":"GINS1缺乏导致联合免疫缺陷症","synonyms":["宫内生长迟缓合并免疫缺陷-NK细胞缺乏-中性粒细胞减少症"],"definition":"一种罕见的合并免疫缺陷综合症，其特点是宫内和产后生长迟缓、慢性中性粒细胞减少和自然杀伤（NK）细胞缺乏，原因是DNA复制缺陷导致骨髓中免疫细胞分化受阻，特别影响NK细胞。其他临床特征包括反复的病毒和细菌感染和湿疹，以及轻度面部畸形。"},"tr":{"name":"GINS1 eksikliğine bağlı kombine immün yetmezlik","synonyms":["Rahim içi büyüme geriliği ile seyreden kombine immün yetmezlik-doğal öldürücü hücre eksikliği-nötropeni","GINS1 eksikliğine bağlı CID","İntrauterin büyüme geriliği ile seyreden kombine immün yetmezlik-NK hücre eksikliği-nötropeni"]}},"xrefs":[{"source":"OMIM","code":"617827","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":"0044725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568132","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169346,"name":"DNA repair defect other than combined T-cell and B-cell immunodeficiencies","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"GINS1","name":"GINS complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28414293[PMID]","hgnc":"28980","ensembl":"ENSG00000101003","omim":"610608","loci":["20p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28414293[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28414293[PMID]"}],"phenotypes":null}