{"orpha":331240,"name":"Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-331240/","orphanet_url":"https://www.orpha.net/en/disease/detail/331240","names":{"fr":{"name":"Déficit immunitaire avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B","synonyms":["Immunodéficience avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B"]},"de":{"name":"Immundefekt mit starker Reduktion von Serum-IgG und Serum-IgA bei normalem/erhöhtem IgM-Level und normaler Anzahl B-Zellen"},"es":{"name":"Inmunodeficiencia con reducción grave de IgG e IgA en suero con IgM normal/elevado y número normal de células B"},"it":{"name":"Immunodeficienza con grave riduzione di IgG e IgA nel siero associata a IgM normali/elevate e un numero normale di cellule B"},"nl":{"name":"Immuundeficiëntie met ernstige reductie in IgG- en IgA-serum met normale/verhooge IgM en normaal aantal B-cellen"},"pt":{"name":"Imunodeficiência com redução severa de IgG e IgA sérica com IgM normal/elevada e número normal de células B"},"pl":{"name":"Niedobór odporności z ciężkim obniżeniem osoczowych IgG i IgA i prawidłowym/podniesionym poziomem IgM oraz prawidłową liczbą komórek B"},"cs":{"name":"Imunodeficience s těžkým snížením IgG a IgA, s normálním/zvýšeným IgM a normálním počtem B-buněk"},"uk":{"name":"Імунодефіцит з вираженим зниженням сироваткових IgG та IgA з нормальним/підвищеним рівнем IgM та нормальною кількістю В-клітин"},"zh":{"name":"免疫缺陷伴血清极低IgG和IgA、正常/升高IgM及正常B细胞数量"},"tr":{"name":"Normal/yüksek IgM ve normal sayıda B hücresi ile serum IgG ve IgA'da ağır azalma ile seyreden immün yetmezlik"}},"xrefs":[{"source":"ICD-11","code":"4A01.05","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"769068598"},{"source":"MONDO","code":"18040","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680941","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101982,"name":"OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells","status":"inactive"}],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":101977,"name":"Immunodeficiency due to predominantly antibodies defect","classifications":[156,195]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]}],"children":[{"orpha":252202,"name":"Constitutional mismatch repair deficiency syndrome","type":"Disease"},{"orpha":183666,"name":"Hyper-IgM syndrome without susceptibility to opportunistic infections","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}