Category: Case Report
Hydroxychloroquine Does not Affect CTLA-4 Expression in LRBA Deficiency: Case Report from Siblings with LRBA Deficiency
Author: Amer Khojah Published Date: July 6, 2020 Leave a Comment on 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…
Hay Wells Syndrome: Report of an Extremely Rare Disorder
Author: Pradyumna Pan Published Date: May 15, 2020 Leave a Comment on 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….
Novel Mutation in RAG2 Gene in a Patient with Severe Combined Immunodeficiency and BCG Infection: A Case Report
Author: Jianhui Zhang Published Date: May 15, 2020 Leave a Comment on 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-…
Posted in Case Report
Management of Arteriovenous Malformations in Pediatric Population: about two Cases
Author: Remy A Published Date: April 5, 2019 2 Comments on 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…
