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Alopecia, Hypothyroidism, Leukopenia and Hypogammaglobulinemia

  • Maria Kanariou
  • Sofia Tantou
  • Marianna Tzanoudaki
  • Lilia Lykopoulou
Chapter

Abstract

RAG1/RAG2 mutations result in variable clinical manifestations, ranging from severe combined immunodeficiency (SCID) and Omenn Syndrome to milder forms

Combined immunodeficiency (CID) has to be excluded in patients with initial suspicion of common variable immunodeficiency (CVID), even in later stage of age and disease

Keywords

Severe combined immunodeficiency Omenn syndrome RAG1 mutation Common variable immunodeficiency 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Maria Kanariou
    • 1
  • Sofia Tantou
    • 1
  • Marianna Tzanoudaki
    • 1
  • Lilia Lykopoulou
    • 2
  1. 1.Department of Immunology-HistocompatibilitySpecialized Center & Referral Center for Primary Immunodeficiencies, Pediatric Immunology, “Aghia Sophia” Children’s HospitalAthensGreece
  2. 2.First Department of PediatricsUniversity of Athens, “Aghia Sophia” Children’s HospitalAthensGreece

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