학술논문
Expanding the molecular and phenotypic spectrum of CTLA‐4 insufficiency.
Document Type
Article
Author
Duke, Sean; Maiarana, James; Yousefi, Pariya; Burks, Elijah; Gerrie, Samantha; Setiadi, Audi; Amid, Ali; Boerkel, Cornelius; Erdle, Stephanie; Guttman, Orlee; Kanani, Amin; Lawrence, Sally; Lee, Anna F.; Pourshahnazari, Persia; Rayar, Meera; Rozmus, Jacob; Schrader, Dewi; Sharma, Mehul; Shopsowitz, Kevin E.; Tan, Ryan
Source
Subject
*CYTOTOXIC T lymphocyte-associated molecule-4
*MOLECULAR spectra
*AUTOIMMUNE diseases
*REGULATORY T cells
*ADRENAL insufficiency
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Language
ISSN
0905-6157
Abstract
This article explores the molecular and phenotypic aspects of CTLA-4 insufficiency, a rare genetic disorder that affects the immune system. It presents two case studies, one involving a 22-month-old infant and the other a 13-year-old boy, both of whom exhibit different symptoms and outcomes associated with the condition. The article emphasizes the significance of genetic testing in accurately diagnosing and treating CTLA-4 insufficiency. Additionally, it discusses the functional validation of two new variants in the CTLA4 gene and their potential implications for disease progression and treatment. [Extracted from the article]