Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.

Receptor Interacting Serine/Threonine Kinase 1 (RIPK1) is widely expressed and integral to inflammatory and cell death responses. Autosomal recessive RIPK1-deficiency, due to biallelic loss of function mutations in RIPK1, is a rare inborn error of immunity (IEI) resulting in uncontrolled necroptosis, apoptosis and inflammation. Although hematopoietic stem cell transplantation (HSCT) has been suggested as a potential curative therapy, the extent to which disease may be driven by extra-hematopoietic effects of RIPK1-deficiency, which are non-amenable to HSCT, is not clear.

The spectrum and burden of in-patient paediatric musculoskeletal diseases in Northern Tanzania.

Background: Musculoskeletal diseases (MSD) are a major contributor to the global burden of disease and disability, and disproportionally affect low- and middle-income countries; however, there is a dearth of epidemiological data. Affected children often face increased morbidity, social isolation and economic hardship.

Aim: To assess the spectrum and burden of paediatric MSD in children aged 5-18 years admitted to a major referral hospital in Tanzania.