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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

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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