Matches in SemOpenAlex for { <https://semopenalex.org/work/W3049277810> ?p ?o ?g. }
- W3049277810 abstract "Combined Immunodeficiencies (CID) are rare congenital disorders characterized by defective T-cell development that may be associated with B- and NK-cell deficiency. They are usually due to alterations in genes expressed in hematopoietic precursors but in few cases, they are caused by impaired thymic development. Athymia was classically associated with DiGeorge Syndrome due to TBX1 gene haploinsufficiency. Other genes, implicated in thymic organogenesis include FOXN1, associated with Nude SCID syndrome, PAX1, associated with Otofaciocervical Syndrome type 2, and CHD7, one of the genes implicated in CHARGE syndrome. More recently, chromosome 2p11.2 microdeletion, causing FOXI3 haploinsufficiency, has been identified in 5 families with impaired thymus development. In this review, we will summarize the main genetic, clinical and immunological features related to the abovementioned genes mutations. We will also focus on different therapeutic approaches to treat SCID in these patients." @default.
- W3049277810 created "2020-08-21" @default.
- W3049277810 creator A5025436262 @default.
- W3049277810 creator A5031321221 @default.
- W3049277810 creator A5053675974 @default.
- W3049277810 creator A5059480642 @default.
- W3049277810 creator A5073982969 @default.
- W3049277810 creator A5079838762 @default.
- W3049277810 creator A5082266454 @default.
- W3049277810 date "2020-08-14" @default.
- W3049277810 modified "2023-10-08" @default.
- W3049277810 title "T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features" @default.
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