Parents as coronavirus disease-19 carriers in intrafamily settings: Cases of severe forms in a family cluster.

The outbreak of coronavirus disease-19 (COVID-19) infection that started in China in December 2019 has subsequently spread too many countries worldwide with high contagiousness. Given the spread and the current debate on the management and origin of intrafamilial clusters of COVID-19, this case highlights how essential it has become to prompt quarantine for the whole family and any contact member who may be at risk of infection. For this, the management of family clusters requires specific guidelines that need to be prepared to help clinicians and families to better face the disease, especially the risk of developing severe forms. We reported a case and the management of severe forms of COVID-19 infection in an intrafamily cluster with different child and parent outcomes.

Infant Case of Co-infection with SARS-CoV-2 and Citrobacter koseri Urinary Infection.

Since 2019 coronavirus disease (COVID-19) is highly contagious with a high mortality rate. France has taken strict infection control measures. According to the report by the Center for Disease Control and Prevention, children are less affected with COVID-19 and seem to have less severe disease than adults. We reported the first confirmed infant case of co-infection with SARS-CoV-2 and Citrobacter koseri urinary infection in 6-week-old child admitted on 25 March 2020 with mild symptoms in the Pediatric COVID Unit of Amiens University Hospital, France.

Severe hyperphosphatasemia and severe acute respiratory syndrome coronavirus 2 infection in children.

: It is now known that SARS-CoV-2 infection because of coronavirus is highly contagious and caused varying degrees of illness throughout the world. Hepatic dysfunction and the slight elevation of liver enzymes have been reported in cases of COVID-19 infection. Transient hyperphosphatasemia is a benign condition characterized by the elevation of serum alkaline phosphatase and the return to normal levels within weeks or months of first observation. We reported the first infant case of severe hyperphosphatasemia because of SARS-CoV-2 infection, in a 9-month-old child admitted to the Pediatric Covid-19 Unit of Amiens University Hospital. Given the hepatic tropism and COVID-19-related hyperinflammatory reactions, our case suggests that, an isolated severe hyperphosphatasemia in children with SARS-CoV-2 infection should increase the possibility of transient hyperphosphatasemia, even if is also demonstrated a classic natural history of the transient hyperphosphatasemia during viral infection, especially in SARS-CoV-2 infection.

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding time diathesis, intellectual disability, mild hypocalcemia, muscle fatigue, asplenia, and ichthyosis. Using targeted sequencing and whole-exome sequencing, we identified the c.910C > T transition in a STIM1 allele (p.R304W) only in patients and not in their unaffected family members. STIM1 encodes stromal interaction molecule 1 protein (STIM1), which is a finely tuned endoplasmic reticulum Ca(2+) sensor. The effect of the mutation on the structure of STIM1 was investigated by molecular modeling, and its effect on function was explored by calcium imaging experiments. Results obtained from calcium imaging experiments using transfected cells together with fibroblasts from one patient are in agreement with impairment of calcium homeostasis. We show that the STIM1 p.R304W variant may affect the conformation of the inhibitory helix and unlock the inhibitory state of STIM1. The p.R304W mutation causes a gain of function effect associated with an increase in both resting Ca(2+) levels and store-operated calcium entry. Our study provides evidence that Stormorken syndrome may result from a single-gene defect, which is consistent with Mendelian-dominant inheritance.