A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.

Mutations in STK4 (MST1) are implicated in a form of autosomal recessive combined immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia), autoimmunity, and cardiac malformations. Here we report a patient with an atypically mild presentation of this disease, initially presenting with severe T cell lymphopenia (< 500 per mm3) and intermittent neutropenia, but now surviving well on immunoglobulins and prophylactic antibacterial treatment. She harbors a unique STK4 mutation that lies further downstream than all others reported to date. Unlike other published cases, her mRNA transcript is not vulnerable to nonsense mediated decay (NMD) and yields a truncated protein that is expected to lose only the C-terminal SARAH domain. This domain is critical for autodimerization and autophosphorylation. While exhibiting significant differences from controls, this patient's T cell proliferation defects and susceptibility to apoptosis are not as severe as reported elsewhere. Expression of PD-1 is in line with healthy controls. Similarly, the dysregulation seen in immunophenotyping is not as pronounced as in other published cases. The nature of this mutation, enabling its evasion from NMD, provides a rare glimpse into the clinical and cellular features associated with the absence of a "null" phenotype of this protein.

The accuracy of Broselow pediatric emergency tape in estimating body weight of pediatric patients.

OBJECTIVES: To determine the accuracy of the Broselow tape on estimating body weights of selected Saudi children. Methods: This is prospective study of children aged 7 days to 13 years who attended the Emergency Department of King Fahd Hospital of the University, Imam Abdulrahman Bin Faisal University, Saudi Arabia, from June 2015 to September 2015. Only children less than 34 kg were enrolled for the study and children with triage categories I and II were eliminated to avoid delay in providing appropriate treatment in these circumstances.  Results: The relationship between the actual and tape estimated body weights showed a correlation coefficient of 0.945 (p less than 0.001) for all children. When adjusting the correlation coefficient related to weight groups, the correlation coefficient was 0.911 (p less than 0.001) for children with body weights between 10 to 25 kg. Conclusion: The Broselow tape measurements do not provide satisfactory results for all children in the selected population, but do provide highly correlated measurements for those children with body weights between 10 and 25 kg.