Germline RUNX1 deficiency predisposes to allergy and autoimmunity

K Sacco, K Laky, MJ Li, M Merguerian… - Journal of Allergy and …, 2021 - jacionline.org
Methods Thirty-one patients (17 female; median age 42 years, range 2-74) with confirmed
RUNX1 mutations were evaluated. Peripheral blood was obtained to evaluate hematologic
variables, total and allergen specific IgE, and lymphocyte immune phenotypes. Results
29/31 patients had a positive allergic history; 21 had allergic rhinitis, 16 allergic
conjunctivitis, and 20 mild-moderate eczema controlled with topical glucocorticoids and
emollients. Seven patients had doctor-diagnosed asthma with 1 patient receiving …