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Recurrent Respiratory Infections and Chronic Hepatic Disease

  • Safa Baris
  • Ayca Kiykim
Chapter

Abstract

Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disease, characterized by mild facial dysmorphisms, agammaglobulinemia or hypoglobulinemia within the presence of B lymphocytes

There are four genetic forms of ICF and all of them have chromosomal instability in chromosomes 1 and 16

Physicians should be awareness for this syndrome in patients with recurrent respiratory and/or gastrointestinal infections accompanied with low immunoglobulins level

Early supportive treatment with antimicrobial prophylaxis and gammaglobulin replacement are recommended

Hematopoietic stem cell transplantation is indicated for patients with severe forms of the disease

Keywords

Immunodeficiency with centromeric instability and facial anomalies Chromosomal instability Hypogammaglobulinemia 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Safa Baris
    • 1
  • Ayca Kiykim
    • 1
  1. 1.Marmara University Medical School, Division of Pediatric Allergy and Immunology, Jeffrey Modell Diagnostic and Research Center for Primary ImmunodeficienciesIstanbulTurkey

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