title: Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital.
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.
authors.affiliation: Department of Pediatrics, Federal University of São Paulo (UNIFESP), Rua dos Otonis 725, 04025-002 São Paulo, SP, Brazil.
authors.forename: Karina Mescouto
authors.initials: KM
authors.lastname: Melo
authors.forename: Ellen
authors.initials: E
authors.lastname: Dantas
authors.forename: Maria Isabel
authors.initials: MI
authors.lastname: De Moraes-Pinto
authors.forename: Antonio
authors.initials: A
authors.lastname: Condino-Neto
authors.forename: Isabela G S
authors.initials: IG
authors.lastname: Gonzalez
authors.forename: Marcia C
authors.initials: MC
authors.lastname: Mallozi
authors.forename: Jackeline M
authors.initials: JM
authors.lastname: Franco
authors.forename: Beatriz T
authors.initials: BT
authors.lastname: Costa-Carvalho