Ibrahim Al-Mohsen

TL;DR: Two unrelated infants homozygous with respect to mutated STAT1 alleles are reported, both infants suffered from mycobacterial disease, but unlike individuals with IFN-γR deficiency, both died of viral disease.

TL;DR: IL12 deficiency is not limited to a single kindred, shows significant variability of outcome, and should be considered in the genetic diagnosis of patients with mycobacteriosis and/or salmonellosis.

TL;DR: An unexpectedly high proportion of mutations that cause human genetic disease might lead to the creation of new N-glycosylation sites, and their pathogenic effects may be a direct consequence of the addition of N-linked carbohydrate.

TL;DR: A review of the literature indicates that zygomycosis caused by A. elegans is associated with traumatic inoculation and is reported in an otherwise healthy child after trauma.

TL;DR: A 4-year-old boy presenting with abdominal pain and fever with eventual diagnosis of gastrointestinal basidiobolomycosis is reported.