Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain.
Iran J Allergy Asthma Immunol
; 20(6): 778-783, 2021 Dec 08.
Article
in En
| MEDLINE
| ID: mdl-34920661
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 14
/
Chromosome Deletion
/
Immunoglobulin Heavy Chains
/
Agammaglobulinemia
/
Disseminated Intravascular Coagulation
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
En
Journal:
Iran J Allergy Asthma Immunol
Journal subject:
ALERGIA E IMUNOLOGIA
Year:
2021
Document type:
Article
Affiliation country: