Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation

Germline heterozygous NFKB2  variants that result in an unprocessable NF-κB2 (nuclear factor-kappa-B) p100 subunit have been identified as a cause of primary immunodeficiency.1 Patients often present with clinical and immunological features consistent with common variable immunodeficiency (CVID); however, additional defects in T and natural killer cells have been reported, widening the immunological phenotype. Multisystem autoimmunity is also frequently present in patients with damaging NFKB2 variants, causing endocrinopathies including central adrenal insufficiency, growth hormone deficiency, and hypothyroidism, as we ll as cutaneous autoimmune manifestations of alopecia totalis and trachyonychia.
Source: Journal of Allergy and Clinical Immunology - Category: Allergy & Immunology Authors: Tags: Letter to the Editor Source Type: research