Posted in Case Report Volume 6, Issue 1

Hydroxychloroquine Does not Affect CTLA-4 Expression in LRBA Deficiency: Case Report from Siblings with LRBA Deficiency

Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency is a rare autosomal recessive genetic disease that presents as a primary immunodeficiency and immune dysregulation caused by…

Continue Reading... Hydroxychloroquine Does not Affect CTLA-4 Expression in LRBA Deficiency: Case Report from Siblings with LRBA Deficiency
Posted in Case Report Volume 6, Issue 1

Hay Wells Syndrome: Report of an Extremely Rare Disorder

Hay-Wells syndrome also known as AEC syndrome (Ankyloblepharon-Ectodermal Dysplasia-clefting syndrome) is an uncommon form of ectodermal dysplasia initially described by Hay and Wells in 1976….

Continue Reading... Hay Wells Syndrome: Report of an Extremely Rare Disorder
Posted in Case Report Volume 6, Issue 1

Novel Mutation in RAG2 Gene in a Patient with Severe Combined Immunodeficiency and BCG Infection: A Case Report

Severe Combined Immunodeficiency (SCID) represents a group of disorders characterised by impairment in both cellular and humoral immunity. SCID patients usually present severe and life-…

Continue Reading... Novel Mutation in RAG2 Gene in a Patient with Severe Combined Immunodeficiency and BCG Infection: A Case Report
Posted in Case Report

Management of Arteriovenous Malformations in Pediatric Population: about two Cases

The annual incidence of brain arteriovenous malformations (AVMs) in the general population is estimated between 0.1 and 4% with an annual hemorrhage rate between 2…

Continue Reading... Management of Arteriovenous Malformations in Pediatric Population: about two Cases