Microcephaly, Recurrent Infections and Failure to Thrive

  • Mihaela Tatiana Bataneant


  • The clinical phenotype of DNA ligase IV deficiency, overlaps with other rare diseases, including Seckel syndrome, Nijmegen breakage and Cernunnos syndrome and the diagnosis is established by exclusion

  • DNA ligase IV deficiency is characterized by severe T and B lymphopenia with microcephaly

  • Hematopoietic stem-cell transplantation is the single curative treatment in DNA ligase IV, there is still a lot of knowledge missing


DNA ligase IV deficiency Severe combined immunodeficiency Hematopoietic stem-cell transplantation Cernunnos 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Mihaela Tatiana Bataneant
    • 1
    • 2
  1. 1.“Victor Babes” University of Medicine and PharmacyTimisoaraRomania
  2. 2.“Louis Turcanu” Children’s Emergency Clinical HospitalTimisoaraRomania

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