Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital. (30th September 2013)

• Record Type: Journal Article
• Authors: Melo, Karina Mescouto; Dantas, Ellen; De Moraes-Pinto, Maria Isabel; Condino-Neto, Antonio; Gonzalez, Isabela G. S.; Mallozi, Marcia C.; Franco, Jackeline M.; Costa-Carvalho, Beatriz T.
• Other Names: Adhikari M. Academic Editor.; Bhimma R. Academic Editor.; Bozzola M. Academic Editor.; Faix R. G. Academic Editor.; Vasarhelyi B. Academic Editor.
• Is Part Of: ISRN pediatrics. Volume 2013(2013)
• Publication Date: 2013-09-30
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Periodicals; 618.92
• DOI: 10.1155/2013/470286
• Languages: English
• ISSNs: 2090-469X

Abstract

Abstract : 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.