Title of article
Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain
Author/Authors
Khalili ، Abbas Department of Pediatrics - Shahid Sadoughi University of Medical Sciences , Yadegari ، Amir Hosein Department of Pediatrics - Shahid Sadoughi University of Medical Sciences , Delavari ، Samaneh Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children s Medical Center Hospital - Tehran University of Medical Sciences , Yazdani ، Reza Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children s Medical Center Hospital - Tehran University of Medical Sciences , Abolhassani ، Hassan Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children s Medical Center Hospital - Tehran University of Medical Sciences
From page
778
To page
783
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.
Keywords
Agammaglobulinemia , Disseminated intravascular coagulation , Immunoglobulin mu , chain , Primary immunodeficiency diseases
Journal title
Iranian Journal of Allergy, Asthma and Immunology
Journal title
Iranian Journal of Allergy, Asthma and Immunology
Record number
2695887
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