Diagnosis of primary immunodeficiency: Let your eyes do the talking

Abstract

Every screening evaluation for primary immunodeficiency must include a physical examination of the patient because the powers of observation should direct the evaluation for several types of primary immunodeficiency.1,2 For example, simple inspection of the patient for growth, lymphoid tissue (X-linked agammaglobulenemia), telangiectasias (ataxia-telangiectasia), abnormal facies (DiGeorge syndrome), chronic eczema (Wiskott-Aldrich syndrome, hyper-IgE syndrome, and immune dysregulation polyendocrinopathy enteropathy X-linked syndrome), pale skin and photophobia (Chediak-Higashi syndrome), or severe gingivostomatitis (leukocyte adhesion defect) allow for proper direction toward making the diagnosis of primary immunodeficiency.