Publications by authors named "A A Bousfiha"
Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene and is characterized by recurrent febrile episodes of abdominal pain, chest pain, and joint involvement. We aim to study the clinical and genetic features of FMF in Moroccan children and to establish a phenotype-genotype correlation in this group of patients.
Methods: A total of 35 patients were included in this study.
. This study aims to describe the clinical and paraclinical characteristics of Multisysteminflammatory syndrome in children (MIS-C). .
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- Hyper-IgE syndrome (HIES) is an inherited immune disorder marked by high IgE levels, chronic eczema, and recurrent staphylococcal infections.
- This study examined Moroccan patients likely suffering from HIES, focusing on their clinical and immunological features based on specific NIH criteria over a 25-year period.
- Findings revealed a wide range of symptoms, with eczema and skin infections being the most common, emphasizing the need for molecular analysis for accurate diagnosis and treatment in light of overlapping symptoms.
Genetic diversity and genomic epidemiology of SARS-CoV-2 during the first 3 years of the pandemic in Morocco: comprehensive sequence analysis, including the unique lineage B.1.528 in Morocco.
Access Microbiol
October 2024
During the 3 years following the emergence of the COVID-19 pandemic, the African continent, like other regions of the world, was substantially impacted by COVID-19. In Morocco, the COVID-19 pandemic has been marked by the emergence and spread of several SARS-CoV-2 variants, leading to a substantial increase in the incidence of infections and deaths. Nevertheless, the comprehensive understanding of the genetic diversity, evolution, and epidemiology of several viral lineages remained limited in Morocco.
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- Epidermodysplasia verruciformis (EV) is a rare skin condition linked to β-human papillomaviruses (HPV) in immunodeficient individuals, presenting as flat warts and pityriasis-like lesions.
- The study details three patients from two families with syndromic EV, identified through whole exome sequencing to have new homozygous variants in the STK4 gene, resulting in a premature stop codon.
- STK4 deficiency causes a combined immunodeficiency leading to increased susceptibility to various infections and autoimmune issues, as evidenced by immunophenotyping showing significant CD4 T cell deficiency in the patients.