The Nck-Associated Protein 1-Like NCKAP1L gene, alternatively called Hematopoietic protein 1 (HEM-1), encodes a hematopoietic-specific regulator of the actin cytoskeleton, part of the WAVE2 complex. N
Table S1. Overview of all clinical characteristics of the patients included in our diagnostic PID cohort, including all immunophenotype characteristics. (XLSX 63 kb)
We report a pleiotropic disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in 2 kindreds with recurrent infections in different organs. One patient had recurrent pneumonia
This EXCEL file contains two sheets. The first sheet contains the metadata of the molecular diagnosis result from a batch of primary immunodeficiency patients. The content is confidential and contains
Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintesti
