Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn

Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 2...

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Detalles Bibliográficos
Autores principales: Miladinovic, Milica, Wittekindt, Boris, Fischer, Sebastian, Gradhand, Elise, Kunzmann, Steffen, Zimmermann, Stefanie Y., Bakhtiar, Shahrzad, Klingebiel, Thomas, Schlösser, Rolf, Lehrnbecher, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039294/
https://www.ncbi.nlm.nih.gov/pubmed/33854515
http://dx.doi.org/10.3389/fimmu.2021.663883
Descripción
Sumario:Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 24 patients with CGD who became symptomatic during the first six weeks of life. Although pulmonary complications and skin lesions due to infection were the leading symptoms, clinical features were extremely heterogenous. As follow-up was not well specified in most patients, the long-term prognosis of children with very early onset of CGD remains unknown.

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