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Melo KM, Dantas E, De Moraes-Pinto MI, et al. Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital. ISRN Pediatr. 2013;2013:470286doi: 10.1155/2013/470286.
Melo, K. M., Dantas, E., De Moraes-Pinto, M. I., Condino-Neto, A., Gonzalez, I. G., Mallozi, M. C., Franco, J. M., & Costa-Carvalho, B. T. (2013). Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital. ISRN pediatrics, 2013470286. https://doi.org/10.1155/2013/470286
Melo, Karina Mescouto, et al. "Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital." ISRN pediatrics vol. 2013 (2013): 470286. doi: https://doi.org/10.1155/2013/470286
Melo KM, Dantas E, De Moraes-Pinto MI, Condino-Neto A, Gonzalez IG, Mallozi MC, Franco JM, Costa-Carvalho BT. Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital. ISRN Pediatr. 2013 Sep 30;2013:470286. doi: 10.1155/2013/470286. eCollection 2013. PMID: 24198970; PMCID: PMC3806379.
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ISRN Pediatr. 2013 Sep 30;2013:470286. doi: 10.1155/2013/470286. eCollection 2013.

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

ISRN pediatrics

Karina Mescouto Melo, Ellen Dantas, Maria Isabel De Moraes-Pinto, Antonio Condino-Neto, Isabela G S Gonzalez, Marcia C Mallozi, Jackeline M Franco, Beatriz T Costa-Carvalho

Affiliations

  1. Department of Pediatrics, Federal University of São Paulo (UNIFESP), Rua dos Otonis 725, 04025-002 São Paulo, SP, Brazil.

PMID: 24198970 PMCID: PMC3806379 DOI: 10.1155/2013/470286

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.

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