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Disseminated Intravascular Coagulation Associated With Large Deletion of Immunoglobulin Heavy Chain Publisher Pubmed



Khalili A1 ; Yadegari AH1 ; Delavari S2, 3 ; Yazdani R2, 3 ; Abolhassani H2, 4
Authors
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Authors Affiliations
  1. 1. Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
  2. 2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  4. 4. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden

Source: Iranian Journal of Allergy# Asthma and Immunology Published:2021


Abstract

Although the majority of monogenic defects underlying primary immunodeficiency are microlesions, large lesions like large deletions are rare and constitute less than 10% of these patients. The immunoglobulin heavy chain (IGH) locus is one of the common regions for such genetic alterations. This study describes a rare case of autosomal recessive agammaglobulinemia with a homozygous large deletion in chromosome 14q32.33 (106067756-106237742) immunoglobulin heavy chain clusters with an unusual and severe skin infection and disseminated intravascular coagulopathy. Copyright © 2021 Khalili et al.
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