Family Members with Congenital Heart Disease and Hypogammaglobulinemia

  • Irina A. Tuzankina
  • Mikhail A. Bolkov
  • Svetlana S. Deryabina
  • Elena V. Vlasova


DiGeorge syndrome is caused by a small deletion in chromosome 22

Multiplex PCR with oligonucleotide probe ligation is a gold standard method for diagnosis of DiGeorge syndrome

Leukopenia, low CD3+ cells count, low serum calcium, arterial trunk and ventricular septal defect, and hypoplasia of the thymus should direct toward a diagnosis of DiGeorge syndrome


DiGeorge Multiplex PCR Leukopenia 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Irina A. Tuzankina
    • 1
  • Mikhail A. Bolkov
    • 2
  • Svetlana S. Deryabina
    • 2
  • Elena V. Vlasova
    • 3
  1. 1.Institute of Immunology and Physiology UB RAS, Ural Federal University, Sverdlovsk Regional Children’s Hospital No. 1YekaterinburgRussia
  2. 2.Institute of Immunology and Physiology UB RAS, Ural Federal UniversityYekaterinburgRussia
  3. 3.Sverdlovsk Regional Children’s Hospital No. 1YekaterinburgRussia

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