{"orpha":183675,"name":"Recurrent infections associated with rare immunoglobulin isotypes deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IgG subclass deficiency with IgA subclass deficiency","Isolated IgG subclass deficiency","Kappa-chain deficiency","Selective IgG subclass deficiency"],"definition":"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-183675/","orphanet_url":"https://www.orpha.net/en/disease/detail/183675","names":{"fr":{"name":"Infection récurrente associée à un déficit rare en isotype d'immunoglobuline","synonyms":["Déficit en chaîne kappa","Déficit en sous-classe d'IgG avec déficit en sous-classe d'IgA","Déficit isolé en sous-classe d'IgG","Déficit sélectif en IgG"]},"de":{"name":"Rezidivierende Infekte mit assoziierten Immunoglobulin-Isotypen"},"es":{"name":"Infecciones recurrentes asociadas a una deficiencia rara de isotipos de inmunoglobulinas","synonyms":["Deficiencia de cadena Kappa","Deficiencia de subclase de IgG aislado","Deficiencia de subclase de IgG con deficiencia de subclase de IgA","Deficiencia selectiva de subclases de IgG"],"definition":"La deficiencia de isotipos de inmunoglobulina (Ig) (que incluye: deficiencia aislada de subclase de IgG, deficiencia de subclase de IgG con deficiencia de IgA y deficiencia de la cadena kappa) son inmunodeficiencias primarias, habitualmente asintomáticas, que pueden caracterizarse por infecciones sinopulmonares recurrentes, a menudo piógenas."},"it":{"name":"Infezioni ricorrenti associate a deficit raro degli isotipi dell'immunoglobulina","synonyms":["Deficit della sottoclasse delle IgG associato a deficit della sottoclasse delle IgA","Deficit delle catene kappa","Deficit isolato della sottoclasse delle IgG","Deficit selettivo della sottoclasse IgG"]},"nl":{"name":"Recidiverende infecties geassocieerd met zeldzame deficiëntie van immunoglobuline-isotypes","synonyms":["Deficiëntie van IgG-subklasse met deficiëntie van IgA-subklasse","Deficiëntie van kappa-keten","Geïsoleerde IgG-subklasse-deficiëntie","Selectieve IgG-subklasse-deficiëntie"],"definition":"Deficiënties van immunoglobuline (Ig)-isotypes (waaronder geïsoleerde deficiëntie van IgG-subklasse, deficiëntie van IgG-subklasse met IgA-deficiëntie en deficiëntie van kappa-keten) zijn primaire immuundeficiënties die vaak asymptomatisch zijn, maar mogelijk gekenmerkt worden door recidiverende, vaak pyogene, sinopulmonale infecties."},"pt":{"name":"Infeções recorrentes associadas a deficiência de isotipos de imunoglobulina raros"},"pl":{"name":"Nawracające infekcje związane z niedoborem rzadkich izotypów immunoglobulin","synonyms":["Izolowany Niedobór podklasy IgG","Niedobór łańcuchów kappa","Niedobór podklasy IgG z niedoborem podklasy IgA","Selektywny Niedobór podklasy IgG"]},"cs":{"name":"Rekurentní infekce asociované s vzácnými deficity imunoglobulinů","synonyms":["Izolovaný IgG deficit","Selektivní IgG deficit","Deficit kappa lehkých řetězců"]},"uk":{"name":"Рецидивуючі інфекції, повязані з дефіцитом рідкісних ізотипів імуноглобулінів","synonyms":["Дефіцит підкласу IgG з дефіцитом підкласу IgA","Ізольований дефіцит підкласу IgG","Дефіцит каппа-ланцюгів","Селективний дефіцит підкласу IgG"],"definition":"Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections."},"zh":{"name":"罕见同型免疫球蛋白缺乏所致复发性感染","synonyms":["IgG亚类缺陷伴IgA亚类缺项"],"definition":"免疫球蛋白（Ig）亚型缺陷病（包括：孤立性IgG缺陷病、IgG缺陷伴IgA缺陷病和kappa链缺陷病）是一种原发性免疫缺陷疾病，一般无症状，也可表现为反复发作的化脓性窦肺感染。"},"tr":{"name":"Nadir immünoglobulin izotip eksikliği -ilişkili tekrarlayan enfeksiyonlar","synonyms":["Kappa zinciri eksikliği","İzole IgG alt sınıf eksikliği","Seçici IgG alt sınıf eksikliği","IgA altsınıf eksikliği ile seyreden IgG alt sınıf eksikliği"]}},"xrefs":[{"source":"OMIM","code":"614102","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D80.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A01.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1673542285"},{"source":"MONDO","code":"0013576","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564131","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3279824","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":[{"symbol":"IGHG2","name":"immunoglobulin heavy constant gamma 2 (G2m marker)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9449702[PMID]","hgnc":"5526","ensembl":"ENSG00000211893","omim":"147110","loci":["14q32.33"]},{"symbol":"IGKC","name":"immunoglobulin kappa constant","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"5716","ensembl":"ENSG00000211592","omim":"147200","loci":["2p11.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-01","source":"25312759[PMID]_28984901[PMID]_32157736[PMID]","terms":[{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002718","label":"Recurrent bacterial infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002783","label":"Recurrent lower respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003193","label":"Allergic rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012387","label":"Bronchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005231","label":"Chronic gastritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0020096","label":"Recurrent streptococcal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030998","label":"Cerebrospinal fluid rhinorrhoea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030151","label":"Cholangitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000031","label":"Epididymitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0500093","label":"Food allergy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100523","label":"Liver abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003765","label":"Psoriasiform dermatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032262","label":"Pulmonary tuberculosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032275","label":"Recurrent shingles","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012476","label":"Specific pneumococcal antibody deficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006562","label":"Viral hepatitis","frequency":"Very rare (<4-1%)","criteria":null}]}}