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Autoimmune Cytopenia

  • Olga Pashchenko
  • Irina Kondratenko
  • Svetlana Vakhlyrskaya
Chapter

Abstract

Different variants of RAG1 mutations cause different clinical PID syndromes: classic Omenn syndrome, severe combined immunodeficiency, leaky severe combined immunodeficiency (SCID), SCID with CMV or SCID with granulomas

Our patient had leaky SCID with severe autoimmune cytopenias and lung involvement

Keywords

Combined immunodeficiency RAG1 Severe combined immunodeficiency Autoimmune cytopenia 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Olga Pashchenko
    • 1
  • Irina Kondratenko
    • 1
    • 2
  • Svetlana Vakhlyrskaya
    • 1
    • 2
  1. 1.Department of ImmunologyPirogov Russian National Research Medical UniversityMoscowRussia
  2. 2.Clinical Immunology and Rheumatology DepartmentRussian Children’s Clinical HospitalMoscowRussia

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