| dbo:abstract |
Das Hyper-IgM-Syndrom Typ 5 (HIGM5) ist eine spezielle Form des seltenen Hyper-IgM-Syndromes, einer angeborenen Erkrankung mit erhöhtem Immunglobulin M und gleichzeitig vermindertem bis fehlendem Immunglobulin G und Immunglobulin A im Blutserum. Synonyme sind: Hyper-IgM-Syndrom durch UNG-Mangel; Hyper-IgM syndrome durch Uracil-N-Glycosylase-Mangel (de) The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA. In hyper-IgM syndromes, patients are deficient in the immunoglobulins, IgG, IgE and IgA types since the antibody producing B cells can not carry out the gene recombination steps necessary to class switch from immunoglobulin M (IgM) to the other three immunoglobulins types. (en) |
| dbo:icd10 |
D80.5 |
| dbo:medicalDiagnosis |
dbr:MRI |
| dbo:omim |
608106 (xsd:integer) |
| dbo:orpha |
101092 |
| dbo:thumbnail |
wiki-commons:Special:FilePath/IgM_scheme.svg?width=300 |
| dbo:wikiPageID |
6886216 (xsd:integer) |
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8271 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1100075558 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Pulmonary_function_test dbr:Encephalopathy dbr:Immunosuppressants dbr:Hypothyroidism dbr:DNA dbr:Antibody dbr:Lymph_node dbr:MRI dbr:Primary_immunodeficiency dbr:Somatic_hypermutation dbr:B_cells dbr:Diarrhea dbr:Granulocyte_colony-stimulating_factor dbc:Rare_syndromes dbr:B_cell dbr:Hyper_IgM_syndrome dbr:Arthritis dbc:Immune_system_disorders dbr:Co-stimulation dbr:Hepatitis dbr:B-cell_receptor dbr:IgE dbr:Immunoglobulin dbr:Immunoglobulin_M dbr:Infection dbr:Radiography dbr:IgA dbr:Uracil-DNA_glycosylase dbr:Neutropenia dbr:Immunoglobulin_A dbr:Immunoglobulin_E dbr:Immunoglobulin_G dbr:Immunoglobulin_class_switching dbr:Pneumocystis_pneumonia dbr:CD40 dbr:Humoral_immune_response dbr:Hyper-IgM_syndromes dbr:AICDA dbr:Immunoglobulins dbr:Allogeneic dbr:CD40L dbr:Hematopoietic_cell dbr:X-linked dbr:File:Class_switch_recombination.png |
| dbp:caption |
dbr:Immunoglobulin_M |
| dbp:diagnosis |
MRI, Chest radiography and genetic testing (en) |
| dbp:icd |
D80.5 (en) |
| dbp:name |
Hyper IgM syndrome type 5 (en) |
| dbp:omim |
608106 (xsd:integer) |
| dbp:orphanet |
101092 (xsd:integer) |
| dbp:symptoms |
Chronic diarrhea (en) |
| dbp:treatment |
Allogeneic hematopoietic cell transplantation (en) |
| dbp:types |
Hyper-IgM syndrome type 1,2,3,4 and 5 (en) |
| dbp:wikiPageUsesTemplate |
dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:Use_dmy_dates dbt:Immune_disorders |
| dcterms:subject |
dbc:Rare_syndromes dbc:Immune_system_disorders |
| rdf:type |
owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disorder114052403 yago:PhysicalCondition114034177 yago:WikicatImmuneSystemDisorders dbo:Disease yago:State100024720 |
| rdfs:comment |
Das Hyper-IgM-Syndrom Typ 5 (HIGM5) ist eine spezielle Form des seltenen Hyper-IgM-Syndromes, einer angeborenen Erkrankung mit erhöhtem Immunglobulin M und gleichzeitig vermindertem bis fehlendem Immunglobulin G und Immunglobulin A im Blutserum. Synonyme sind: Hyper-IgM-Syndrom durch UNG-Mangel; Hyper-IgM syndrome durch Uracil-N-Glycosylase-Mangel (de) The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA. In hyper-IgM syndromes, patients are deficient in the immunoglobulins, IgG, IgE and IgA types since the antibody producing B cells can not carry out the gene recombination steps necessary to class switch from immunoglobulin M (IgM) to the other three immunoglobulins types. (en) |
| rdfs:label |
Hyper-IgM-Syndrom Typ 5 (de) Hyper-IgM syndrome type 5 (en) |
| owl:sameAs |
freebase:Hyper-IgM syndrome type 5 yago-res:Hyper-IgM syndrome type 5 wikidata:Hyper-IgM syndrome type 5 dbpedia-de:Hyper-IgM syndrome type 5 https://global.dbpedia.org/id/4nCeq |
| prov:wasDerivedFrom |
wikipedia-en:Hyper-IgM_syndrome_type_5?oldid=1100075558&ns=0 |
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wiki-commons:Special:FilePath/Class_switch_recombination.png wiki-commons:Special:FilePath/IgM_scheme.svg |
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wikipedia-en:Hyper-IgM_syndrome_type_5 |
| foaf:name |
Hyper IgM syndrome type 5 (en) |
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dbr:Hyper_IgM_Syndrome_Type_5 |
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dbr:Hyper_IgM_syndrome dbr:Hyper_IgM_Syndrome_Type_5 dbr:List_of_syndromes |
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wikipedia-en:Hyper-IgM_syndrome_type_5 |
