Posted in Case Report

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

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