{"orpha":169139,"name":"Transient hypogammaglobulinemia of infancy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-169139/","orphanet_url":"https://www.orpha.net/en/disease/detail/169139","names":{"fr":{"name":"Hypoglammaglobulinémie transitoire de l'enfance","definition":"Déficit immunitaire primaire rare caractérisé par un retard de maturation de la production d'immunoglobulines, causant la prolongation de l'hypogammaglobulinémie physiologique de la période néonatale au-delà de l'âge de six mois. Les patients manifestent des infections respiratoires récurrentes, des otites moyennes, des bronchites, des gastro-entérites ou des symptômes allergiques au cours des deux à quatre premières années de leur vie, avant que la maladie ne régresse spontanément. Certains enfants sont asymptomatiques, les infections sévères ou potentiellement létales sont rares. La capacité à synthétiser des anticorps spécifiques en réponse aux vaccins est généralement normale."},"de":{"name":"Transiente Hypogammaglobulinämie der Kindheit","definition":"Ein seltener primärer Immundefekt, der durch eine verzögerte Reifung der Immunglobulinproduktion gekennzeichnet ist und zu einer Verlängerung der physiologischen Hypogammaglobulinämie der Neugeborenenperiode über das Alter von sechs Monaten hinaus führt. Die Patienten leiden in den ersten zwei bis vier Lebensjahren an rezidivierenden Atemwegsinfektionen, Otitis media, Bronchitis, Gastroenteritis oder allergischen Symptomen, bevor die Erkrankung spontan abklingt. Einige Kinder können asymptomatisch bleiben, und schwere oder lebensbedrohliche Infektionen sind selten. Die Fähigkeit, als Reaktion auf Impfstoffe spezifische Antikörper zu synthetisieren, ist in der Regel normal."},"es":{"name":"Hipogammaglobulinemia transitoria del lactante","definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por un retraso de la maduración de la producción de inmunoglobulinas, que lleva a una prolongación de la hipogammaglobulinemia fisiológica del período neonatal más allá de los seis meses de edad. Los pacientes presentan infecciones respiratorias recurrentes, otitis media, bronquitis, gastroenteritis o síntomas alérgicos en los primeros dos a cuatro años de vida, antes de que el trastorno se resuelva espontáneamente. Algunos niños pueden permanecer asintomáticos, y las infecciones graves o potencialmente mortales son infrecuentes. La capacidad de sintetizar anticuerpos específicos en respuesta a las vacunas suele ser normal."},"it":{"name":"Ipogammaglobulinemia transitoria dell'infanzia","definition":"Si tratta di un'immunodeficienza primitiva rara, caratterizzata da ritardo nella maturazione della produzione delle immunoglobuline, che esita nel prolungamento dell'ipogammaglobulinemia fisiologica del periodo neonatale oltre i sei mesi di vita. I pazienti presentano infezioni respiratorie ricorrenti, otite media, bronchite, gastroenterite o sintomi allergici nei primi due-quattro anni, prima che la malattia si risolva spontaneamente. Alcuni bambini sono asintomatici e le infezioni gravi o potenzialmente letali sono rare. Di solito la capacità di sintetizzare anticorpi specifici in risposta ai vaccini è normale."},"nl":{"name":"Transiënte hypogammaglobulinemie op zuigelingenleeftijd","definition":"Een zeldzame primaire immuundeficiëntie, gekarakteriseerd door vertraagde maturatie van immunoglobulineproductie, wat leidt tot prolongatie van fysiologische hypogammaglobulinemie van neonaten tot na de leeftijd van zes maanden. Patiënten vertonen recidiverende respiratoire infecties, middenoorontsteking, bronchitis, gastro-enteritis, of allergische symptomen tijdens de eerste twee levensjaren, vooraleer de aandoening spontaan verdwijnt. Sommige kinderen blijven mogelijk asymptomatisch, en ernstige of levensbedreigende infecties zijn zeldzaam. Synthese van specifieke antilichamen als reactie op vaccins is meestal normaal."},"pt":{"name":"Hipogamaglobulinemia transitória da infância"},"pl":{"name":"Przemijająca hipogammaglobulinemia niemowląt"},"cs":{"name":"Přechodná hypogamaglobulinémie v dětství"},"uk":{"name":"Транзиторна гіпогаммаглобулінемія немовлят","definition":"A rare primary immunodeficiency characterized by a delay in the maturation of immunoglobulin production, leading to prolongation of the physiologic hypogammaglobulinemia of the newborn period beyond six months of age. Patients present recurrent respiratory infections, otitis media, bronchitis, gastroenteritis, or allergic symptoms in the first two to four years of life, before the condition resolves spontaneously. Some children may remain asymptomatic, and severe or life-threatening infections are rare. The capacity to synthesize specific antibodies in response to vaccines is usually normal."},"zh":{"name":"婴儿一过性低丙种球蛋白血症","definition":"婴儿期短暂性低丙球蛋白血症是一种罕见的原发性免疫缺陷病，其主要临床表现为免疫球蛋白合成时间推迟，新生儿生理性低丙种球蛋白血症延长至六个月以上。患儿在2-4岁会出现反复性呼吸道感染、中耳炎、支气管炎、胃肠炎或过敏症状，可以自然缓解。部分患儿可能无症状，严重或危及生命的感染罕见。患儿接种疫苗后产生抗体的能力正常。"},"tr":{"name":"Süt çocuğunda geçici hipogammaglobulinemi"}},"xrefs":[{"source":"ICD-10","code":"D80.7","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.03","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1686370790"},{"source":"MONDO","code":"0015698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272238","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":331232,"name":"Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells","classifications":[156,195]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}