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
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
