Open AccessDisseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain
Author(s) -
Abbas Khalili,
Amir Hosein Yadegari,
Samaneh Delavari,
Reza Yazdani,
Hassan Abolhassani
Publication year - 2021
Publication title -
iranian journal of allergy, asthma and immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.357
H-Index - 25
eISSN - 1735-5249
pISSN - 1735-1502
DOI - 10.18502/ijaai.v20i6.8030
Subject(s) - immunoglobulin heavy chain , coagulopathy , antibody , immunoglobulin light chain , immunodeficiency , disseminated intravascular coagulation , immunology , medicine , biology , pathology , immune system
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.