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. Here, we present two CGD patients who were hospitalized due to severe COVID-19 infections, which suggests that COVID-19 might have a different pathogenesis than other viruses.

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case.

The DIAPH1 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. In humans, dominant gain-of-function DIAPH1 variants cause sensorineural deafness and macrothrombocytopenia (DFNA1), while homozygous DIAPH1 loss leads to seizures, cortical blindness, and microcephaly syndrome (SCBMS). To date, only 16 patients with SCBMS have been reported, none of whom were from Iran. Furthermore, aspergillosis is yet to be reported in patients with homozygous DIAPH1 loss, and the link between SCBMS and immunodeficiency remains elusive. In this study, we shed further light on this matter by reporting the clinical, genetic, and phenotypic characteristics of an Iranian boy with a long history of recurrent infections, diagnosed with SCBMS and immunodeficiency (NM_005219.5 c.3145C > T; p.R1049X variant) following aspergillosis and SARS-CoV-2 coinfection.

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.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.

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. A 26 months old boy developed prolonged high fever, bilateral conjunctival infection, arthralgia and erythromatosis skin rash. He was admitted to the hospital with the diagnosis of Kawasaki disease. Laboratory results included an erythrocyte sedimentation rate (ESR) above 100 and platelet count > 1000,000. The patient developed acute and unprovoked scalp hair loss. He was treated with intravenous immunoglobulin (IVIG) 2 g/kg and aspirin 100 mg/kg/day with complete improvement of signs and symptoms. This report documents hair loss as an uncommon presentation of Kawasaki disease.