Novel Lipopolysaccharide-Responsive Vesicle Trafficking, Beach- and Anchor-Containing (LRBA) Gene Mutation Identified in a Pediatric Patient: A Case Report

Homozygous mutations in the lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing ( ) gene lead to a syndrome characterized by early-onset hypogammaglobulinemia, autoimmunity, lymphoproliferation, and inflammatory bowel disease. This report describes a 10-year-old female wh...

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Veröffentlicht in:	Curēus (Palo Alto, CA) CA), 2024-07, Vol.16 (7), p.e65434
Hauptverfasser:	Dua, Jasleen, Jadhav, Renuka, Pande, Vineeta, Bahal, Mridu, Mane, Shailaja V
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Cerebrospinal fluid Colonoscopy Convulsions & seizures Cytotoxicity Diabetes Disease prevention Ear diseases Genetic counseling Homeostasis Immune system Immunoglobulins Leukocytes Lymphocytes Mutation Pediatrics Proteins Purpura Streptococcus infections
Online-Zugang:	Volltext
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