{"orpha":99842,"name":"Leukocyte adhesion deficiency type I","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LAD-I"],"definition":"A form of leukocyte adhesion deficiency (LAD) characterized by life-threatening, recurrent bacterial infections, neutrophilia, and delayed detachment of the umbilical cord.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99842/","orphanet_url":"https://www.orpha.net/en/disease/detail/99842","names":{"fr":{"name":"Déficit d'adhésion leucocytaire type I","synonyms":["DAL-I","Déficit d'adhérence des leucocytes type I","Déficit d'adhérence leucocytaire type I","Déficit d'adhésion des leucocytes type I","LAD-I"],"definition":"Forme de déficit d'adhésion leucocytaire (DAL) caractérisée par des infections bactériennes récurrentes engageant potentiellement le pronostic vital, une neutrophilie et une chute retardée du cordon ombilical."},"de":{"name":"Leukozytenadhäsionsdefekt Typ I","synonyms":["LAD-I"],"definition":"Eine Form des Leukozyten-Adhäsionsdefekts (LAD), die durch lebensbedrohliche, wiederkehrende bakterielle Infektionen, Neutrophilie und verzögerte Ablösung der Nabelschnur gekennzeichnet ist."},"es":{"name":"Deficiencia de adhesión leucocitaria tipo I","synonyms":["LAD-I"],"definition":"Es una forma de deficiencia de adhesión leucocitaria (DAL) caracterizada por infecciones bacterianas recurrentes potencialmente mortales, neutrofilia y desprendimiento tardío del cordón umbilical."},"it":{"name":"Deficit di adesione leucocitaria, tipo I","synonyms":["LAD-I"]},"nl":{"name":"Deficiëntie van leukocytenadhesie type I","synonyms":["LAD-I","Leukocytenadhesiedeficiëntie type I"],"definition":"Een vorm van deficiëntie van leukocytenadhesie (LAD), gekenmerkt door levensbedreigende, recidiverende bacteriële infecties, neutrofilie, en vertraagde loslating van de navelstreng."},"pt":{"name":"Deficiência de adesão leucocitária tipo I","definition":"A deficiência na adesão leucocitária tipo I (LAD-I) é uma forma de LAD (ver este termo) caracterizada por infecções bacterianas recorrentes que colocam a vida em risco."},"pl":{"name":"Niedobór adhezji leukocytów typu I","synonyms":["LAD-I"]},"cs":{"name":"Deficit adheze leukocytů, typ I","synonyms":["LAD-I"]},"uk":{"name":"Дефіцит адгезії лейкоцитів, тип I","synonyms":["LAD-І"],"definition":"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections."},"zh":{"name":"白细胞粘附缺陷1型","synonyms":["LAD-I"],"definition":"白细胞黏附缺陷I型(LAD-I)是LAD的一种形式(见该词条)，其特征是危及生命的反复细菌感染。"},"tr":{"name":"Lökosit adezyon eksikliği tip I","synonyms":["LAD-I"]}},"xrefs":[{"source":"OMIM","code":"116920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"516653913"},{"source":"MONDO","code":"0007293","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535887","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398738","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6893","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090483","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":2968,"name":"Leukocyte adhesion deficiency","classifications":[156,189,195]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"ITGB2","name":"integrin subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6155","ensembl":"ENSG00000160255","omim":"600065","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}