Table of Contents
ISRN Pediatrics
Volume 2013, Article ID 470286, 6 pages
Clinical Study

Primary Immunodeficiency May Be Misdiagnosed as Cow’s Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital

1Department of Pediatrics, Federal University of São Paulo (UNIFESP), Rua dos Otonis 725, 04025-002 São Paulo, SP, Brazil
2Department of Immunology, University of São Paulo (USP), Avenida Professor Lineu Prestes, 05508-000 São Paulo, SP, Brazil
3Department of Pediatrics, Federal University of Sergipe, Rua Claudio Batista s/n, 49060-100 Sergipe, SE, Brazil

Received 25 June 2013; Accepted 27 August 2013

Academic Editors: M. Adhikari, R. Bhimma, M. Bozzola, R. G. Faix, and B. Vasarhelyi

Copyright © 2013 Karina Mescouto Melo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.