{"orpha":169142,"name":"Recurrent infections due to specific granule deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Neutrophil-specific granule deficiency"],"definition":"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169142/","orphanet_url":"https://www.orpha.net/en/disease/detail/169142","names":{"fr":{"name":"Infections récurrentes par déficit en granules spécifiques","synonyms":["Déficit en granules spécifiques des neutrophiles"],"definition":"Déficit fonctionnel rare de neutrophiles caractérisé par l'apparition infantile d'une susceptibilité accrue aux infections pyogènes, notamment de la peau, des oreilles, des poumons et des ganglions lymphatiques, avec des neutrophiles dépourvus de granules spécifiques et présentant des noyaux bilobés sur le frottis de sang périphérique. La biopsie de la moelle osseuse révèle une hypercellularité, un petit nombre de granulocytes neutrophiles et une myélodysplasie progressive. Les autres signes cliniques observés sont un retard de développement léger à modéré, une dysmorphie faciale légère (se manifestant, notamment, par des oreilles dysplasiques) et des malformations des os, des dents et des ongles."},"de":{"name":"Rekurrente Infektionen durch spezifischen Granulamangel","synonyms":["Neutrophilen-spezifischer Granulamangel"],"definition":"Ein seltener funktioneller Neutrophilendefekt, der sich durch eine im Kindesalter beginnende erhöhte Anfälligkeit für eitrige Infektionen, insbesondere der Haut, der Ohren, der Lunge und der Lymphknoten, auszeichnet, wobei den Neutrophilen spezifische Granula fehlen und sie im peripheren Blutausstrich zweigeteilte Kerne aufweisen. Die Knochenmarksbiopsie zeigt Hyperzellularität, einen Mangel an neutrophilen Granulozyten und eine progressive Myelodysplasie. Weitere Manifestationen können eine leichte bis mäßige Entwicklungsverzögerung, leichte Gesichtsdysmorphien (z. B. dysplastische Ohren) und Anomalien der Knochen, Zähne und Nägel sein."},"es":{"name":"Infecciones recurrentes por deficiencia de gránulos específicos","synonyms":["Deficiencia de gránulos específicos de neutrófilos"],"definition":"Es un defecto funcional de los neutrófilos poco frecuente caracterizado por una mayor susceptibilidad a las infecciones piógenas, especialmente en la piel, los oídos, los pulmones y los ganglios linfáticos, de inicio en la lactancia, con neutrófilos carentes de gránulos específicos que presentan núcleos bilobulados en el frotis de sangre periférica. La biopsia de médula ósea muestra hipercelularidad, granulocitos neutrófilos escasos y mielodisplasia progresiva. Otras manifestaciones adicionales pueden incluir retraso psicomotor de leve a moderado, leves rasgos faciales dismórficos (como orejas displásicas) y anomalías óseas, dentales y ungueales."},"it":{"name":"Infezione ricorrente da deficit di granuli specifici","synonyms":["Deficit dei granuli specifici dei neutrofili"],"definition":"Si tratta di un difetto funzionale raro dei neutrofili, caratterizzato dalla predisposizione, a partire dall'infanzia, alle infezioni da piogeni, che interessano soprattutto la cute, le orecchie, i polmoni e i linfonodi. I neutrofili sono privi di granuli specifici e presentano nuclei bilobati sugli strisci di sangue periferico. La biopsia del midollo osseo mostra ipercellularità, scarsità di granulociti neutrofili e mielodisplasia progressiva. I pazienti possono presentare anche ritardo dello sviluppo lieve-moderato, dismorfismi facciali sfumati (orecchie displastiche) e anomalie dello scheletro, dei denti e delle unghie."},"nl":{"name":"Recidiverende infecties door specifieke granulaire deficiëntie","synonyms":["Neutrofielspecifieke granuledeficiëntie"],"definition":"Een zeldzaam functioneel defect van neutrofielen, gekarakteriseerd door infantiele aanvang van verhoogde susceptibiliteit voor pyogene infectie, vooral van huid, oor, long, en lymfeklieren, met neutrofielen die specifieke granules missen en bilobaire nuclei vertonen op uitstrijkjes van perifeer bloed. Biopsie van beenmerg toont hypercellulariteit, gebrek aan neutrofiele granulocyten, en progressieve myelodysplasie. Mogelijke bijkomende manifestaties zijn onder meer milde tot matige ontwikkelingsachterstand, milde dysmorfe gelaatskenmerken (zoals dysplastische oren), en bot-, tand-, en nagelanomalieën."},"pt":{"name":"Infeção recorrente por deficiência granular específica","synonyms":["Deficiência granular neutrófilo-específica"]},"pl":{"name":"Nawracające infekcje z powodu niedoboru specyficznych ziarnistości","synonyms":["Niedobór specyficznych ziarnistości neutrofilowych"]},"cs":{"name":"Opakované infekce způsobené deficitem specifických granul","synonyms":["Deficit specifických granul v neutrofilech"]},"uk":{"name":"Рецидивуючі інфекції через дефіцит специфічних гранул","synonyms":["Дефіцит нейтрофільних специфічних гранул"],"definition":"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails."},"zh":{"name":"特异性颗粒缺乏反复感染","synonyms":["嗜中性粒细胞-特异性颗粒缺乏症"]},"tr":{"name":"Spesifik granül eksikliğine bağlı tekrarlayan enfeksiyon","synonyms":["Nötrofile özgü granül eksikliği"]}},"xrefs":[{"source":"OMIM","code":"245480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617475","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D71","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1528881101"},{"source":"MONDO","code":"0009506","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5546032","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10778","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331184,"name":"Syndrome with congenital neutropenia as a major feature","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"CEBPE","name":"CCAAT enhancer binding protein epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10359588[PMID]","hgnc":"1836","ensembl":"ENSG00000092067","omim":"600749","loci":["14q11.2"]},{"symbol":"SMARCD2","name":"SWI/SNF related BAF chromatin remodeling complex subunit D2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28369036[PMID]","hgnc":"11107","ensembl":"ENSG00000108604","omim":"601736","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}