NFKB2 Mutation in 2 Siblings with DAVID Syndrome and CVID with Variable Presentations

Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare disease characterized by anterior pituitary hormone deficiency and common variable immunodeficiency (CVID). Here we present cases of two sisters with identical NKFB2 gene mutations, one with DAVID syndrome, the other with CVID.