| dbo:abstract |
CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha (CD25) (IL2RA) gene. The mutations cause expression of a defective α chain or complete absence thereof, an essential part of high-affinity interleukin-2 (IL-2) receptors. The result is a syndrome described as IPEX-like or a SCID. In one patient, deficiency of CD25 on CD4+ lymphocytes caused significantly impaired sensitivity to IL-2. This was demonstrated by a lack of measurable response in anti-inflammatory interleukin-10 (IL-10) secretion to low-dose IL-2 incubation. Greatly reduced IL-10 secretion compared to healthy humans results in a syndrome comparable to IPEX syndrome, a type of autoimmunity which is caused by FoxP3 transcription factor dysfunction. In addition to IPEX-like symptoms, CD25 deficiency increases susceptibility to viral infections and possibly fungal and bacterial infections. As IL-2 is an important inducer of lymphocyte proliferation, the absence of highly sensitive IL-2 receptors may also significantly hinder activation and clonal expansion of and CD4+ lymphocytes and NK cells. One case also reported the absence of CD1, a MHC-like glycoprotein involved in the presentation of lipid antigens to T cells, in a CD25 deficient patient. Furthermore, chronic upregulation of anti-apoptotic Bcl-2 in thymocytes was also described possibly allowing autoreactive T cells to escape deletion. (en) |
| dbo:icd10 |
D81.2 |
| dbo:omim |
606367 (xsd:integer) |
| dbo:orpha |
169100 |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageID |
34244700 (xsd:integer) |
| dbo:wikiPageLength |
3827 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1040101958 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Bcl-2 dbr:Gene_expression dbr:Antigens dbr:Apoptosis dbr:Major_histocompatibility_complex dbr:Lipid dbr:Cell_proliferation dbc:Genetic_disorders_by_system dbc:Noninfectious_immunodeficiency-related_cutaneous_conditions dbr:CD1 dbr:IPEX_(syndrome) dbr:IL-2_receptor dbr:FoxP3 dbr:Lymphocyte dbr:NK_cells dbr:Severe_combined_immunodeficiency dbr:Thymocytes dbr:Interleukin-10 dbr:Interleukin-2 dbr:Clonal_expansion dbr:CD4+_lymphocytes dbr:CD8+_lymphocyte |
| dbp:caption |
This condition is inherited in an autosomal recessive manner. (en) |
| dbp:icd |
D81.2 (en) |
| dbp:name |
CD25 deficiency (en) |
| dbp:omim |
606367 (xsd:integer) |
| dbp:orphanet |
169100 (xsd:integer) |
| dbp:synonyms |
Interleukin-2 receptor alpha chain deficiency (en) |
| dbp:wikiPageUsesTemplate |
dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Immune_disorders |
| dct:subject |
dbc:Genetic_disorders_by_system dbc:Noninfectious_immunodeficiency-related_cutaneous_conditions |
| gold:hypernym |
dbr:Disorder |
| rdf:type |
owl:Thing wikidata:Q12136 yago:WikicatNoninfectiousImmunodeficiency-relatedCutaneousConditions yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisordersBySystem dbo:Disease yago:State100024720 |
| rdfs:comment |
CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha (CD25) (IL2RA) gene. The mutations cause expression of a defective α chain or complete absence thereof, an essential part of high-affinity interleukin-2 (IL-2) receptors. The result is a syndrome described as IPEX-like or a SCID. (en) |
| rdfs:label |
CD25 deficiency (en) |
| owl:sameAs |
freebase:CD25 deficiency yago-res:CD25 deficiency wikidata:CD25 deficiency https://global.dbpedia.org/id/4eYqh |
| prov:wasDerivedFrom |
wikipedia-en:CD25_deficiency?oldid=1040101958&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
| foaf:isPrimaryTopicOf |
wikipedia-en:CD25_deficiency |
| foaf:name |
CD25 deficiency (en) |
| is dbo:wikiPageWikiLink of |
dbr:List_of_primary_immunodeficiencies dbr:IL-2_receptor |
| is foaf:primaryTopic of |
wikipedia-en:CD25_deficiency |
