{"orpha":477661,"name":"IL21-related infantile inflammatory bowel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IL21-related infantile IBD"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477661/","orphanet_url":"https://www.orpha.net/en/disease/detail/477661","names":{"fr":{"name":"Maladie inflammatoire de l'intestin infantile associée à IL21","definition":"Déficit immunitaire primaire autosomique récessif rare caractérisé par l'apparition, dans la petite enfance, d'une maladie inflammatoire grave de l'intestin, accompagnée d'une diarrhée potentiellement létale et d'un retard de croissance staturo-pondéral, d'ulcères aphteux buccaux et d'infections sévères et récurrentes des voies respiratoires supérieures et inférieures ainsi que de l'hippocratisme digital. L'examen biologique met en évidence des taux élevés d'IgE et des taux bas d'IgG, ainsi qu'un nombre réduit de lymphocytes B CD19+ circulants, y compris de lymphocytes B naïfs IgM+ et de lymphocytes B mémoires IgG à commutation de classe, et une augmentation concomitante des lymphocytes B transitionnels, le nombre et la fonction des lymphocytes T étant normaux."},"de":{"name":"IL21-abhängige infantile chronisch-entzündliche Darmerkrankung","synonyms":["IL21-abhängige infantile IBD"],"definition":"Ein seltener autosomal-rezessiver primärer Immundefekt, der im Säuglingsalter durch eine schwere entzündliche Darmerkrankung mit lebensbedrohlichen Durchfällen und Gedeihstörungen, aphthösen Mundgeschwüren und rezidivierenden schweren Infektionen der oberen und unteren Atemwege mit Ausbildung von Trommelschlegelfingern gekennzeichnet ist. Laboruntersuchungen zeigen erhöhte IgE- und erniedrigte IgG-Werte sowie eine erniedrigte Anzahl zirkulierender CD19+-B-Zellen, einschließlich naiver IgM+- und klassenwechselnder IgG-Gedächtnis-B-Zellen, bei gleichzeitiger Erhöhung der transienten B-Zellen, während Anzahl und Funktion der T-Zellen normal sind."},"es":{"name":"Enfermedad inflamatoria intestinal del lactante asociada al gen IL21","synonyms":["EII del lactante asociada al gen IL21"],"definition":"Es una inmunodeficiencia primaria autosómica recesiva poco frecuente caracterizada por la aparición en la infancia de enfermedad inflamatoria intestinal grave con diarrea potencialmente mortal y fallo de medro, úlceras aftosas orales y graves infecciones recurrentes de las vías aéreas superiores e inferiores con dedos en palillo de tambor. Las pruebas de laboratorio revelan un aumento de IgE y una disminución de los niveles de IgG, así como un recuento reducido de células B CD19+ circulantes, incluyendo ''células virgen'' IgM+ y células B de memoria IgG con cambio de clase con un aumento concomitante de células B de transición, mientras que el número y función de las células T son normales."},"it":{"name":"Malattia infiammatoria intestinale neonatale correlata a IL21","definition":"Si tratta di un'immunodeficienza primitiva rara, a trasmissione autosomica recessiva, caratterizzata da una grave malattia infiammatoria intestinale ad esordio neonatale associata a diarrea potenzialmente letale e ritardo della crescita, ulcere aftose del cavo orale, infezioni gravi ricorrenti delle vie respiratorie superiori e inferiori, e ippocratismo digitale. Gli esami di laboratorio evidenziano livelli elevati di IgE e ridotti di IgG, un numero ridotto di linfociti B CD19+ nel circolo, compresi i linfociti B naive IgM+ e i linfociti B della memoria IgG con scambio di classe, con un aumento concomitante dei linfociti B di transizione, mentre i linfociti T sono normali per numero e funzione."},"nl":{"name":"IL-21-gerelateerde infantiele inflammatoire darmziekte","synonyms":["IL-21-gerelateerde infantiele IBD"],"definition":"Een zeldzame autosomaal recessieve primaire immuundeficiëntie, gekarakteriseerd door aanvang in de zuigelingentijd van ernstige inflammatoire darmziekte met levensbedreigende diarree en groeifalen, orale afteuze ulcera, recidiverende ernstige infecties van bovenste en onderste luchtwegen, en trommelstokvingers. Laboratoriumonderzoek toont verhoogde gehaltes van IgE en verlaagde gehaltes van IgG, alsook gereduceerd aantal circulerende CD19+ B-cellen waaronder IgM+ naïeve en van klasse gewisselde IgG B-geheugencellen, met gelijktijdige toename van transitionele B-cellen, terwijl T-cellen normaal zijn in aantal en functie."},"pt":{"name":"Doença inflamatória do intestino da infância IL21-relacionada"},"pl":{"name":"Niemowlęce nieswoiste zapalenie jelit zależne od IL21","synonyms":["Niemowlęce IBD zależna od IL21"]},"cs":{"name":"IL21-vázaná zánětlivá nemoc střev s nástupem v kojeneckém věku","synonyms":["IL21-related infantile IBD","IL21-vázaná infantilní IBD"]},"uk":{"name":"Інфантильна запальна хвороба кишечника, повязана з IL21","synonyms":["IL21-асоційована інфантильна ВЗК у дітей"],"definition":"A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal."},"zh":{"name":"白介素21相关婴儿炎症性肠病","synonyms":["IL12相关婴儿IBD"],"definition":"是一种罕见的常染色体隐性原发性免疫缺陷，其特征是婴儿期起病的严重炎症性肠病，伴有危及生命的腹泻和发育停滞，口腔口疮性溃疡，反复发作的上、下呼吸道严重感染，并伴有手指关节炎。实验室检查发现IgE增高，IgG水平下降，循环CD19+B细胞包括IgM+幼稚和类别转换IgG记忆B细胞数量减少，同时过渡性B细胞增多，而T细胞数量和功能正常。"},"tr":{"name":"IL21 -ilişkili infantil inflamatuar bağırsak hastalığı","synonyms":["IL21-ilişkili infantil IBD"]}},"xrefs":[{"source":"OMIM","code":"615767","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DD7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567788","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":695164,"name":"Combined immunodeficiency with low B cells and hypogammaglobulinemia","classifications":[156,195,233]},{"orpha":717851,"name":"Rare non-syndromic inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"IL21","name":"interleukin 21","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19890111[PMID]_24746753[PMID]","hgnc":"6005","ensembl":"ENSG00000138684","omim":"605384","loci":["4q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19890111[PMID]_24746753[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19890111[PMID]_24746753[PMID]"}],"phenotypes":null}