Common variable immunodeficiency in a child. A case report

Abstract

Primary immunodeficiency syndromes are relatively rare medical conditions that are oft en misdiagnosed because of unspecific clinical presentation that mimics other more common diseases. Incidence of combined common variable immunodeficiency (CVID) is ca. 1 case per 30.000 European population. Usually, a delay of several years is observed between onset and diagnosis. CVID is the most frequent primary immunodeficiency after 4 years of life. The key symptom to establish the disorder is hypogammaglobulinemia. The aim of this article is to demonstrate current trends in diagnostics of common variable immunodeficiency (CVID). The present case report describes a 10-year old girl with four major internationally approved criteria of common variable immunodeficiency (CVID), and specific lung involvement. Malignant conditions were excluded. NGS genetic study did not detect any gene mutation which could be responsible for CVID or related syndromes (ALPS, HLH). Hence, the CVID remains a diagnosis of exclusion. Despite replacement with intravenous immunoglobulins, the lung function in our patient continued to deteriorate that necessitated initiation of immunosuppressive treatment.