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Skin Abscesses, Eczema and Lymphopenia

  • Elif Karakoc-Aydiner
  • Ahmet Ozen
Chapter

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

Keywords

PGM3 deficiency Hyper IgE syndrome Severe combined immunodeficiency 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Elif Karakoc-Aydiner
    • 1
    • 2
  • Ahmet Ozen
    • 1
    • 2
  1. 1.Division of Allergy and ImmunologyMarmara UniversityIstanbulTurkey
  2. 2.Istanbul Jeffrey Modell Foundation Diagnostic Center for Primary Immune DeficienciesIstanbulTurkey

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