CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation

Abstract

ABSTRACT Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It is characterized by hypogammaglobulinemia and can present with a broad range of symptoms including recurrent bacterial infections, autoimmunity, and malignancy. Rarely, it has been implicated with peripheral neuropathy. We present a case of CVID with peripheral neuropathy and a pathogenic heterozygous variant of IL-7 receptor gene. The patient is a 38-year-old female with a history of recurrent infections since childhood including pneumonia and sinus infections status post tonsillectomy and sinus surgery. She subsequently developed severe left leg and lower back pain that progressed to left foot drop and decreased sensation over the left leg. She was found to have severe hypogammaglobulinemia and poor polysaccharide and protein response, thus meeting criteria for CVID. Mononeuropathy is a rare finding in CVID. Genetic panel was performed and was significant for a single pathogenic variant in IL-7 receptor. Disruptions in the IL-7 and IL-7 receptor signaling pathway have been associated with autoimmunity such as rheumatoid arthritis and multiple sclerosis. Further investigation is indicated to determine the clinical significance of this variant.