Abstract
PGM deficiency is a rare autosomal recessive disease, characterized by recurrent infections, lymphopenia, neutropenia, elevated IgE levels, eosinophilia, skeletal or neurological involvement, and reversed CD4+/CD8+ ratio
Patients present with either of the two scenarios, first; with early in life symptoms similar to severe combined immunodeficiency (SCID) phenotype and a second, later in life with hyper IgE syndrome (HIES)-like presentation
Physicians should keep in mind PGM3 deficiency in patients with negative results for relevant SCID or HIES genes in accordance to their clinical presentation and phenotype
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Karakoc-Aydiner, E., Ozen, A. (2019). Skin Abscesses, Eczema and Lymphopenia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_140
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