T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features
| Autor: | Carla Borzacchiello, Emilia Cirillo, Roberta Romano, Claudio Pignata, Martina De Luca, Rosaria Prencipe, Giuliana Giardino |
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| Přispěvatelé: | Giardino, G., Borzacchiello, C., De Luca, M., Romano, R., Prencipe, R., Cirillo, E., Pignata, C. |
| Rok vydání: | 2020 |
| Předmět: |
lcsh:Immunologic diseases. Allergy
0301 basic medicine TBX1 T cell T-Lymphocytes Mini Review Immunology DiGeorge anomaly Thymus Gland Gene mutation TBX1 gene 03 medical and health sciences CHARGE syndrome Combined immunodeficiencies 0302 clinical medicine CHD7 gene DiGeorge syndrome medicine Immunology and Allergy Humans FOXN1 gene business.industry FOXN1 medicine.disease Pax 1/9 Thymus 030104 developmental biology medicine.anatomical_structure PAX1 gene Severe Combined Immunodeficiency lcsh:RC581-607 Haploinsufficiency business CHARGE 030215 immunology |
| Zdroj: | Frontiers in Immunology Frontiers in Immunology, Vol 11 (2020) |
| ISSN: | 1664-3224 |
| Popis: | 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 gene mutations. We will also focus on different therapeutic approaches to treat SCID in these patients. |
| Databáze: | OpenAIRE |
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