717 citations,
June 2010 in “Nature” A genome-wide association study conducted on 1,054 cases and 3,278 controls identified several susceptibility loci for alopecia areata, suggesting the involvement of both innate and adaptive immunity in the disease. The study highlighted significant associations with genes related to regulatory T cells, CTLA4, IL-2/IL-21, IL-2RA, and the HLA region, as well as genes expressed in the hair follicle like PRDX5 and STX17. Notably, the ULBP gene cluster on chromosome 6q25.1, encoding ligands for the natural killer cell receptor NKG2D, was implicated for the first time in autoimmune disease, with ULBP3 expression upregulated in the hair follicle during active disease. This research provided insights into the genetic basis of alopecia areata and suggested a novel mechanism involving ULBP ligand upregulation in autoimmunity.
9 citations,
October 2008 in “British Journal of Dermatology” The growth of the Epstein-Barr virus in the patient's cells was linked to the worsening of her lymphoma.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
June 2023 in “Research Square (Research Square)” Different immune responses cause hair loss in scalp diseases, with unique patterns in scalp psoriasis possibly protecting against hair loss.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.