A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.

Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven-year-old boy with SRD5A3-CDG (homozygous variant c.

COVID-19 in Chronic Granulomatosis Disease: A Case Report.

A novel coronavirus disease known as Coronavirus Disease 2019 (COVID-19) has spread quickly throughout the world, and it was declared a pandemic in March 2022. Chronic granulomatous disease (CGD) is a diverse group of genetic disorders characterized by recurrent bacterial and fungal infections, resulting in granulomas due to the inability of phagocytes to destroy microbes. Even though it is thought that impaired neutrophil activity is a protective mechanism against severe COVID-19-induced cytokine storms and hyper-inflammatory responses, patients with CGD have normal immunity to most viruses.

Homozygous Autosomal Recessive Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.

The gene fulfills critical immune and neurodevelopmental roles. It encodes the mammalian Diaphanous-related formin (mDia1) protein, which acts downstream of Rho GTPases to promote F-actin polymerization and stabilize microtubules. During mitosis, this protein is expressed in human neuronal precursor cells and considerably affects spindle formation and cell division.

Hair loss as a sign of Kawasaki disease.

Kawasaki disease is a multi system disorder with varying clinical expressions. This disease is an acute systemic vasculitis of unknown etiology that has recently recognized as a leading cause of acquired heart disease in children of many developed countries. We describe an unusual instance of hair loss in a patient with Kawasaki disease.