1.
Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain.
Iran J Allergy Asthma Immunol
; 20(6): 778-783, 2021 Dec 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34920661
RESUMO
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.