{"orpha":183707,"name":"Infantile LAD-like disease due to RAC2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency"],"definition":"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183707/","orphanet_url":"https://www.orpha.net/en/disease/detail/183707","names":{"fr":{"name":"Maladie DAL-like infantile par déficit en RAC2","synonyms":["Maladie de déficit d'adhésion leucocytaire-like infantile par déficit en protéine Rac family small GTPase"],"definition":"Le syndrome d'immunodéficience neutrophile est un déficit immunitaire primitif caractérisé par une neutrophilie avec dysfonction sévère des polynucléaires neutrophiles (PNN), une leucocytose, une prédisposition aux infections bactériennes et une mauvaise cicatrisation avec, notamment, l'absence de pus dans les zones infectées."},"de":{"name":"Infantile LAD-artige Erkrankung aufgrund RAC2-Defizienz","definition":"Das Neutrophile Immundefekt-Syndrom ist ein primärer Immundefekt und gekennzeichnet durch Neutrophilie mit schwerer Funktionsstörung der Neutrophilen, Leukozytose, Prädisposition zu bakteriellen Infektionen und schlechter Wundheilung mit fehlender Bildung von Eiter in den infizierten Arealen."},"es":{"name":"Enfermedad similar a la LAD infantil por deficiencia de RAC2","synonyms":["Deficiencia de adhesión leucocitaria infantil por deficiencia de Rac2 GTPasa"],"definition":"El síndrome de inmunodeficiencia de neutrófilos es una inmunodeficiencia primaria caracterizada por neutrofilia con disfunción grave de los neutrófilos, leucocitosis, predisposición a infecciones bacterianas, mala cicatrización de las heridas, y ausencia de pus en las zonas infectadas."},"it":{"name":"Malattia simil-LAD infantile da deficit di RAC2","synonyms":["Deficit infantile di adesione leucocitaria da deficit della piccola GTPasi 2 della famiglia Rac"],"definition":"La sindrome da immunodeficienza neutrofila è un'immunodeficienza primitiva caratterizzata da neutrofilia con grave disfunzione neutrofila, leucocitosi, predisposizione alle infezioni batteriche e difficoltosa riparazione delle ferite, in assenza di pus nelle aree infette."},"nl":{"name":"Infantiele LAD-achtige ziekte door RAC2-deficiëntie","synonyms":["Infantiele deficiëntie van leukocytenadhesie door deficiëntie van 'Rac family small GTPase 2'","Infantiele leukocytenadhesiedeficiëntie door RAC2-deficiëntie"],"definition":"Neutrofiel immuundeficiëntiesyndroom is een primaire immuundeficiëntie, gekenmerkt door neutrofilie met ernstige disfunctie van neutrofielen, leukocytose, predispositie voor bacteriële infecties en slechte heling van wonden, waaronder afwezigheid van pus in geïnfecteerde gebieden."},"pt":{"name":"Doença infantil LAD-like devido a deficiência RAC2","synonyms":["Deficiência de adesão leucocitária infantil devido a deficiência de GTPase pequena da família Rac"]},"pl":{"name":"Choroba podobna do LAD u dzieci spowodowana niedoborem RAC2","synonyms":["Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency"]},"cs":{"name":"Deficit RAC2 GTPázy","synonyms":["Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency"]},"uk":{"name":"Інфантильна LAD-подібна хвороба, спричинена дефіцитом RAC2","synonyms":["Дефіцит адгезії лейкоцитів у немовлят, спричинений дефіцитом малої ГТФази 2 родини Rac"],"definition":"Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas."},"zh":{"name":"中性粒细胞免疫缺陷综合征","definition":"中性粒细胞免疫缺陷综合征是一种原发性免疫缺陷，其主要临床表现为中性粒细胞功能严重障碍，白细胞增多，易感染细菌，伤口愈合不良，感染部位无脓。"},"tr":{"name":"Nötrofil immün yetmezlik sendromu"}},"xrefs":[{"source":"OMIM","code":"608203","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D71","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1459690929"},{"source":"MONDO","code":"0011988","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564275","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5924996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":674896,"name":"Non-syndromic congenital phagocyte functional defect","classifications":[156,195]}],"children":[],"genes":[{"symbol":"RAC2","name":"Rac family small GTPase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10758162[PMID]","hgnc":"9802","ensembl":"ENSG00000128340","omim":"602049","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10758162[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10758162[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011990","label":"Abnormality of neutrophil physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Very frequent (99-80%)","criteria":null}]}}