1 citations,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
98 citations,
March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
15 citations,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.