Publications by authors named "Bousfiha A"

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.

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. 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.
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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.
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  • Classical microbiology and immunology have made significant strides in controlling infectious diseases, but recent pandemics like SARS-COV-2 expose limitations in these traditional methods.
  • Human genetics plays a crucial role in determining an individual's susceptibility or resistance to infections, influencing how different people react to the same pathogens.
  • Integrating genetic insights with microbiology can enhance our understanding of infections and help develop better prevention and treatment strategies.
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Background: Streptococcus pneumoniae, a major contributor to global morbidity and mortality, disproportionately affects children, the elderly, and immunocompromised individuals. Despite vaccination efforts, the challenge of serotype replacement highlights the ongoing struggle against invasive pneumococcal diseases (IPD) in Morocco, emphasizing the need for updated public health strategies and vaccine efficacy assessments.

Methods: This study was conducted at the Ibn Rochd University Hospital Center and the Mohammed VI University Hospital Center from 2019 to 2022, focusing on hospitalized children.

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The complement system is a set of over 50 proteins that constitutes an essential part of the innate immune system. Complement system activation involves an organized proteolytic cascade. Overactivation of complement system activation is the main pathogenic mechanism of several diseases and contributes to the manifestations of many other conditions.

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Tuberculous meningitis, a severe form of tuberculosis caused by Mycobacterium tuberculosis (BK), remains a major public health challenge worldwide. In addition to the complex mechanisms of the innate and adaptive immune response against Mycobacterium tuberculosis, there is a crucial genetic dimension to consider. Individuals with specific genetic variations may have altered immune responses that make them more susceptible to this form of tuberculosis.

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  • SARS-CoV-2 causes pneumonia and severe respiratory issues, especially in patients with genetic defects in type I interferon, impacting individuals differently based on age and gender.
  • About 3-5% of critical COVID-19 patients under 60 years have genetic defects in interferon production, while around 15-20% of those over 70 show autoantibodies against type I interferons.
  • This review discusses the links between genetic and immunological factors contributing to severe COVID-19 and pediatric multisystem inflammatory syndrome (MIS-C), emphasizing the need for more research to develop targeted treatments and strategies for future viral infections.
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  • Morocco has seen progress in tackling tuberculosis, but the Covid-19 pandemic disrupted tuberculosis control worldwide and altered its epidemiology.
  • A retrospective study of children hospitalized for tuberculosis at a Casablanca hospital from 2018 to 2022 revealed significant fluctuations in case numbers before, during, and after the pandemic.
  • The data showed a drop in annual cases during quarantine (23) compared to pre-pandemic (49) and a rise post-quarantine (81), with more extrapulmonary cases observed during the pandemic.
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The synthetic scope of 3-arylated tetrazo[1,2-]indazoles is reported based on a Pd-catalyzed Liebeskind-Srogl cross-coupling reaction followed by an N-cyclisation process. The reactivity of the nitrogen atoms was used to further diversify these N-rich polyaromatic tetrazo[1,2-]indazoles in a panel of reactions (protonation, selective oxidation, metallations). Selective -C-H activation/functionalization on the heterocycle was also demonstrated with three transition metals (TM = Pd, Ir and Rh).

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Chronic myeloid leukemia (CML) is a neoplastic disease of genetic origin resulting from clonal proliferation of hematopoietic stem cells (HSCs). The reciprocal translocation t(9;22)(q34;q11) is the main chromosomal abnormality involved in this pathology, usually detected by conventional cytogenetics. This article aims to investigate the epidemiological, cytogenetic, therapeutic, and clinical characteristics of Moroccan patients with CML.

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Introduction: this study aimed to investigate the prevalence and management of food allergies (FA) and drug allergies (DA) in Morocco. Sparse and conflicting epidemiological data exist on the exact prevalence of allergies in the country. The rise in allergies can be attributed to various factors.

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Autoimmune cytopenias are defined by autoantibodies' immune destruction of one or more blood elements. Most often it is autoimmune hemolytic anemia or immune thrombocytopenia or both that define Evans syndrome. It may be secondary to infection or to underlying pathology such as systemic autoimmune disease or primary immunodeficiency, especially when it becomes chronic over several years.

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Introduction: Febrile seizures (FS) are the most common neurologic disorder seen in children. Caused mainly by fever without any damage to the central nervous system (CNS). The associations of several factors, which we can find in the inflammatory response and genetic predisposition, are involved in the occurrence of FS.

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Background: COVID-19 patients usually present multiple comorbidities and complications associated with severe forms of SARS-CoV-2 infection. This study aimed to assess the risk factors and prevalence of comorbidities and complications contributing to the severity of COVID-19.

Methods: This meta-analysis was performed according to PRISMA guidelines.

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It is estimated that in highly medicalised countries, median life expectancy for most newborns with cystic fibrosis now exceeds 70 years, approaching that of the general population. However, socio-economic disparities between countries continue to have a devastating impact on the prognosis of patients in Eastern Europe, Africa, India and South America. In Morocco, very limited genetic data suggest that the prevalence of this disease is at least of the same order as in Belgium.

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The detection of a high serum immunoglobulin E (IgE) level is first suggestive of allergy, atopy or parasitosis. However, some very high values can be a sign of more severe diseases. We propose a diagnostic strategy based on clinical and biological data to identify the various hereditary immune diseases that also present with abnormally high serum IgE levels.

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In the era of genomics, orientation in the face of hereditary neutropenia still requires, first and foremost, a good clinical and cytological analysis. The thirty responsible genes now explain 60% of congenital neutropenia. These are rare since they are only found in 1‰ of all congenital neutropenia, estimated at 1% of the population.

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  • This study investigates the prevalence of celiac disease (CD) among Moroccan children with type 1 diabetes mellitus (T1DM), as there's limited data in Arab regions about this relationship.
  • Over a 16-year period, 550 T1DM patients were screened for CD, revealing that 10% had histologically confirmed CD, with a significant number developing it shortly after T1DM diagnosis.
  • The findings highlight a notably high prevalence of CD in young T1DM patients, suggesting a need for systematic screening for CD in this population to improve diagnosis and management.
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  • In a study of 183 unvaccinated children hospitalized for COVID-19 pneumonia, 10.4% had autoantibodies that neutralized type I interferons (IFNs), specifically targeting IFN-α2 and IFN-ω in varying combinations.
  • Among the children with autoantibodies, 3.8% neutralized higher levels of IFN-α2, while the rest had lower neutralization capabilities, and some uninfected children also displayed similar antibodies.
  • The presence of these autoantibodies significantly increased the odds of developing severe COVID-19 pneumonia, particularly those neutralizing higher concentrations of IFN-α2 compared to those neutralizing IFN-ω.
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The constant progress of genomics and the establishment of new functional tests have paved the way for identifying monogenic defects conferring a selective predisposition to infections by certain microbes as a new type of inborn errors of immunity (IEIs). Mendelian susceptibility to mycobacterial diseases (MSMD) is the most characterized of these IEIs, with 36 different disorders found in 20 distinct genes (, and ) over the last 20 years. MSMD confers a selective susceptibility to infections with weakly virulent mycobacteria, including the .

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Common variable immunodeficiency (CVID) is a complex inborn error of humoral immunity with complications of both infectious and non-infectious origins. Classifications of CVID patients provide a clearer understanding of the pathogenesis, prediction, and management of non-infectious complications. This study aims to classify Moroccan CVID patients based on the European classification (EUROclass).

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Background: The emergence of SARS-CoV-2 variants has significantly increased the number of cases of COVID-19 among vaccinated individuals, raising concerns about the effectiveness of current vaccines. The aim of this study was to analyze the SARS-CoV-2 infection risks after primary vaccination with BNT162b2, BBIBP-CorV, or ChAdOx1-nCOV-19 and after homologues and heterologous booster vaccinations with these vaccines, as well as the profiles of reinfected patients.

Methods: We analyzed retrospectively 1082 patients vaccinated or unvaccinated with BNT162b2, BBIBP-CorV, and/or ChAdOx1nCoV-19 vaccines to determine their SARS-CoV2 infection statuses using the reverse transcription-polymerase chain reaction (RT-PCR) in addition to their clinical features.

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