Primary atopic disorders: inborn errors of immunity causing severe allergic diseaseCURRENT OPINION IN IMMUNOLOGYIF5.82025-06-010OAAI
A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosisThPOK基因中的一个多形态变异导致免疫缺陷伴T细胞缺陷和纤维化。JOURNAL OF EXPERIMENTAL MEDICINEIF10.62025-05-200PRE
Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyondTRENDS IN IMMUNOLOGYIF13.92024-02-016OAAI
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphismHUMAN GENETICS AND GENOMICS ADVANCESIF3.62024-01-012OAAI
Transcription factor defects in inborn errors of immunity with atopyFRONTIERS IN ALLERGYIF3.12023-09-015OAAI