{"orpha":331232,"name":"Immunodeficiency with isotype or light chain deficiencies with 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-331232/","orphanet_url":"https://www.orpha.net/en/disease/detail/331232","names":{"fr":{"name":"Déficit immunitaire avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B","synonyms":["Immunodéficience avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B"]},"de":{"name":"Immundefekt mit Isotypen- oder Leichtketten-Mangel und normaler Anzahl B-Zellen"},"es":{"name":"Inmunodeficiencia con isotipo o deficiencias de cadena ligera con número normal de células B"},"it":{"name":"Immunodeficienza con deficit delle catene leggere e degli isotipi associati a un numero normale di cellule B"},"nl":{"name":"Immuundeficiëntie met isotype of lichte keten-deficiënties met normaal aantal B-cellen"},"pt":{"name":"Imunodeficiência com deficiências do isotipo ou da cadeia leve com número normal de células B"},"pl":{"name":"Niedobór odporności z deficytami izotypu lub łańcucha lekkiego z prawidłową liczbą komórek B"},"cs":{"name":"Imunodeficience s isotypem nebo deficitem lehkého řetězce s normálním počtem B-buněk"},"uk":{"name":"Імунодефіцит з дефіцитом ізотипів або легких ланцюгів з нормальною кількістю В-клітин"},"zh":{"name":"B细胞正常性免疫缺陷伴同型或轻链缺陷"},"tr":{"name":"Normal sayıda B hücresi ile izotip veya hafif zincir eksiklikleri ile seyreden immün yetmezlik"}},"xrefs":[{"source":"MONDO","code":"18038","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680939","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101980,"name":"OBSOLETE: Disease with isotype or light chain deficiencies with 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]}],"children":[{"orpha":169110,"name":"Immunoglobulin heavy chain deficiency","type":"Disease"},{"orpha":183675,"name":"Recurrent infections associated with rare immunoglobulin isotypes deficiency","type":"Disease"},{"orpha":331235,"name":"Selective IgM deficiency","type":"Disease"},{"orpha":169139,"name":"Transient hypogammaglobulinemia of infancy","type":"Disease"},{"orpha":2571,"name":"Woods-Black-Norbury syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}