210 A multimorphic variant in ThPOK causes a novel human disease characterized by T cell immune developmental abnormalities, immunodysregulation, atopy, and organ fibrosis

Maryam Vaseghi-Shanjani,Mehul Sharma, Pariya Yousefi, Simran Samra,Kaitlin Laverty,Arttu Jolma, Liam Golding, Rozita Razavi,Ally Yang,Mihai Albu,Anna Lee, Ryan Tan,Phillip Richmond,Marita Bosticardo,Jonathan Rayment,Connie Yang,Kyla Hildebrand,Rae Brager, Michelle Demos, Yu-Lung Lau

Clinical Immunology（2024）

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关键词

Inborn error of immunity,Primary atopic disorder,CD4 T cell deficiency,Allergy,Transcription factor,Combined immunodeficiency,Fibrosis,Interstitial lung disease,ThPOK,T cell development

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