Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain

Abbas Khalili; Amir Hosein Yadegari; Samaneh Delavari; Reza Yazdani; Hassan Abolhassani

doi:10.18502/ijaai.v20i6.8030

Abbas Khalili Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Amir Hosein Yadegari Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Samaneh Delavari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Reza Yazdani Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
Hassan Abolhassani Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/ijaai.v20i6.8030

Keywords: Agammaglobulinemia; Disseminated intravascular coagulation; Immunoglobulin mu-chain; Primary immunodeficiency diseases

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.