Introduction. The presence of eczema and gastrointestinal manifestations are often observed in cow’s milk allergy (CMA) and also in some primary immunodeficiency diseases (PID). Objective. To describe 7 patients referred to a tertiary allergy/immunology Center with a proposed diagnosis of CMA, who were ultimately diagnosed with PID. Methods. This was a retrospective study based on clinical and laboratory data from medical records. Results. Seven patients (6 males) aged between 3？mo and 6？y were referred to our clinic with a proposed diagnosis of CMA. They presented with eczema and/or gastrointestinal symptoms. Five were receiving replacement formula. All patients presented with other clinical features, including severe/recurrent infections unrelated to CMA, and two of them had a positive family history of PID. Laboratory tests showed immune system dysfunctions in all patients. Hyper-IgE and Wiskott-Aldrich syndromes, CD40L deficiency, severe combined immunodeficiency, X-linked agammaglobulinemia, transient hypogammaglobulinemia of infancy, and chronic granulomatous disease were diagnosed in these children. In conclusion, allergic diseases and immunodeficiency are a result of a different spectrum of abnormalities in the immune system and may be misdiagnosed. Educational programs on PID among clinical physicians and pediatricians can reduce the occurrence of this misdiagnosis. 1. Introduction Primary immunodeficiency diseases (PID) comprise a heterogeneous group of diseases in which there is a defect in the development and/or function of the immune system and to date approximately 150 diseases have been described [1]. Clinical presentation of PID diseases is highly variable, and the hallmark is increased susceptibility to recurrent or severe infections [2, 3]. In addition, some forms of PIDs present with immune dysregulation and lymphoproliferation and others have a more complex phenotype in which infection is only one of the multiple components of the disease phenotype [1, 2]. Cow’s milk allergy (CMA) results from an adverse immunological reaction to one or more milk proteins [4]. The clinical signs of CMA are nonspecific and include cutaneous, respiratory, or gastrointestinal manifestations [5]. A detailed history, screening with skin allergy tests, serum specific-IgE (SIgE), and oral food challenge are recommended in guidelines to confirm the diagnosis in IgE-mediated food allergy [5, 6]. A subset of children has non-IgE mediated CMA and present mainly with gastrointestinal (GI) symptoms. However, the symptoms resolve when milk is eliminated from the
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