{"orpha":331235,"name":"Selective IgM deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Selective immunoglobulin M deficiency"],"definition":"A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-331235/","orphanet_url":"https://www.orpha.net/en/disease/detail/331235","names":{"fr":{"name":"Déficit sélectif en IgM","synonyms":["Déficit sélectif en immunoglobuline M"],"definition":"Déficit immunitaire primaire caractérisé par des infections bactériennes, virales et fongiques récurrentes et/ou invasives, associées à des taux sanguins d'IgM faibles ou nuls, alors que les taux d'IgG, de sous-classes d'IgG et d'IgA, ainsi que la réponse des anticorps IgG aux vaccinations, sont normaux. Les patients peuvent également présenter des diathèses allergiques et une prévalence accrue des maladies auto-immunes."},"de":{"name":"IgM-Mangel, selektiver","synonyms":["Immunoglobulin M-Mangel, selektiver"],"definition":"Ein seltener primärer Immundefekt, der durch rezidivierende und/oder invasive bakterielle, virale und Pilzinfektionen gekennzeichnet ist und mit niedrigen bis fehlenden IgM-Werten im Blut einhergeht, während die IgG-, IgG-Subklassen- und IgA-Werte sowie die IgG-Antikörperreaktion auf Impfungen normal sind. Die Patienten können auch allergische Diathesen aufweisen, und die Prävalenz von Autoimmunerkrankungen ist erhöht."},"es":{"name":"Deficiencia de IgM selectiva","synonyms":["Deficiencia de inmunoglobulina M selectiva"],"definition":"Es una inmunodeficiencia primaria poco frecuente caracterizada por infecciones bacterianas, virales y micóticas recurrentes y/o invasivas, asociadas con una disminución o ausencia de los niveles de IgM en sangre, mientras que los niveles de IgG, subclases de IgG e IgA, así como la respuesta de anticuerpos IgG a las vacunas, son normales. Los pacientes también pueden presentar diátesis alérgicas y una mayor prevalencia de enfermedades autoinmunes."},"it":{"name":"Deficit selettivo di IgM","synonyms":["Deficit selettivo delle immunoglobuline M"],"definition":"Si tratta di un'immunodeficienza primitiva rara, caratterizzata da infezioni batteriche, virali e fungine ricorrenti e/o invasive, associate all'assenza o a livelli bassi di IgM nel sangue, mentre i livelli delle IgG, nelle sottoclassi IgG e IgA, e la risposta degli anticorpi IgG ai vaccini sono normali. I pazienti possono presentare anche una diatesi allergica. È aumentata la prevalenza delle malattie autoimmuni."},"nl":{"name":"Selectieve IgM-deficiëntie","synonyms":["Selectieve immunoglobuline M-deficiëntie"],"definition":"Een zeldzame primaire immuundeficiëntie, gekarakteriseerd door recidiverende en/of invasieve bacteriële, virale en fungale infecties, geassocieerd met lage gehaltes of afwezigheid van IgM in bloed, terwijl gehaltes van IgG, IgG-subklassen en IgA normaal zijn, net als de respons met IgG antilichamen op vaccinatie. Patiënten vertonen mogelijk ook allergische diathese, en de prevalentie van auto-immuunziekten is verhoogd."},"pt":{"name":"Défice seletivo de IgM"},"pl":{"name":"Selektywny Niedobór IgM","synonyms":["Selektywny Niedobór immunoglobuliny M"]},"cs":{"name":"Selektivní deficit IgM","synonyms":["Selektivní deficit imunoglobulinu M"]},"uk":{"name":"Селективний дефіцит IgM","synonyms":["Селективний дефіцит імуноглобуліну М"],"definition":"A rare primary immunodeficiency characterized by recurrent and/or invasive bacterial, viral, and fungal infections, associated with low to absent blood IgM levels, while IgG, IgG subclasses, and IgA levels, as well as IgG antibody response to vaccinations, are normal. Patients may also present allergic diatheses, and the prevalence of autoimmune diseases is increased."},"zh":{"name":"选择性IgM缺陷","synonyms":["选择性免疫球蛋白M缺陷"],"definition":"一种罕见的原发性免疫缺陷，以反复和/或侵袭性细菌、病毒和真菌感染为特征，血清IgM水平低或缺乏，而IgG、IgG亚类和IgA水平以及免疫接种后的IgG抗体反应正常。患者也可能出现过敏性疾病，且自身免疫性疾病的患病率增加。"},"tr":{"name":"Seçici IgM eksikliği","synonyms":["Seçici immünoglobulin M eksikliği"]}},"xrefs":[{"source":"ICD-10","code":"D80.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A01.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"271493401"},{"source":"MONDO","code":"0018039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0154275","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12547","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039916","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":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23760686[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-06","source":"28984901[PMID]_31970029[PMID]_33706406[PMID]","terms":[{"hpo":"HP:0002850","label":"Decreased circulating total IgM","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032140","label":"Decreased specific antibody response to vaccination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011108","label":"Recurrent sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003193","label":"Allergic rhinitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012432","label":"Chronic fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009098","label":"Chronic oral candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031292","label":"Cutaneous abscess","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045080","label":"Decreased proportion of CD3-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032218","label":"Decreased proportion of CD4-positive T cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030380","label":"Decreased proportion of transitional B cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033430","label":"Non-infectious meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032261","label":"Nontuberculous mycobacterial pulmonary infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002837","label":"Recurrent bronchitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011370","label":"Recurrent cutaneous fungal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005353","label":"Recurrent herpes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004798","label":"Recurrent infection of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007499","label":"Recurrent staphylococcal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012204","label":"Recurrent vulvovaginal candidiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031691","label":"Severe viral infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200043","label":"Verrucae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100280","label":"Crohn's disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005415","label":"Decreased proportion of CD8-positive T cells","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100537","label":"Fasciitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012539","label":"Non-Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012203","label":"Onychomycosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032262","label":"Pulmonary tuberculosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032275","label":"Recurrent shingles","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032170","label":"Severe varicella zoster infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030757","label":"Tooth abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002720","label":"Decreased circulating IgA level","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004315","label":"Decreased circulating IgG level","frequency":"Excluded (0%)","criteria":null}]}}