TLDR Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
The study investigated the clinical and immunological characteristics of 50 patients with primary immunodeficiency due to damaging mutations in the NFKB2 gene. The majority of patients experienced early-onset primary immunodeficiency, with common symptoms including respiratory infections, autoimmune manifestations (80%), alopecia (38%), and ACTH deficiency (44%). Immunologically, patients exhibited hypogammaglobulinemia, impaired B cell differentiation, and variable T cell dysfunction. The findings underscored the critical role of NFKB2 in immune homeostasis and highlighted the severe and multifaceted nature of the associated primary immunodeficiency, necessitating treatments like immunoglobulin replacement and immunosuppressive therapy.
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