Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain

Iranian Journal of Allergy, Asthma and Immunology

Abbas Khalili¹  Amir Hosein Yadegari¹  Hassan Abolhassani²  Reza Yazdani³  Samaneh Delavari³ 

[1] Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran;Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden;Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran;

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

DOI  :  10.18502/ijaai.v20i6.8030

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown