0000000001320298
AUTHOR
John Chambers
Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations
Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. METHODS: In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants were assessed by functional in vitro testing of nuclear factor of kappa light polypeptide gene enhancer in B cells (NF-κB) signaling. RESU…
Additional file 1 of Network reconstruction for trans acting genetic loci using multi-omics data and prior information
Additional file 1 Supplementary material, supporting figures and tables.
Additional file 2 of Network reconstruction for trans acting genetic loci using multi-omics data and prior information
Additional file 2 Supplementary tables, large supporting tables with table titles as tabs.