Ibtihal Benhsaien
A5073497938- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Mycobacterium research and diagnosis
- T-cell and B-cell Immunology
- Inflammasome and immune disorders
- Tuberculosis Research and Epidemiology
- Drug-Induced Adverse Reactions
- Cystic Fibrosis Research Advances
- Pediatric health and respiratory diseases
- Immune Response and Inflammation
- Pneumocystis jirovecii pneumonia detection and treatment
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Cytomegalovirus and herpesvirus research
- Platelet Disorders and Treatments
- Mosquito-borne diseases and control
- Kawasaki Disease and Coronary Complications
- Respiratory viral infections research
- Chronic Lymphocytic Leukemia Research
- Glycogen Storage Diseases and Myoclonus
- Immune responses and vaccinations
- Genetics and Neurodevelopmental Disorders
- Acne and Rosacea Treatments and Effects
- Food Allergy and Anaphylaxis Research
University of Hassan II Casablanca
2013-2025
Centre Hospitalier Universitaire Ibn Rochd
2008-2025
Hôpital d'Enfants
2010-2022
Hôpital 20 Août
2019
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form hyper-immunoglobulin E syndrome (HIES). We describe patients with recessive HIES due to loss-of-function a previously uncharacterized gene, ZNF341 is factor that resides in the nucleus, where it binds specific DNA motif present various genes, including STAT3 promoter. The patients' cells have low basal levels mRNA protein. autoinduction...
High-level expression of the transcription factor T-bet characterizes a phenotypically distinct murine B cell population known as “age-associated cells” (ABCs). T-bet–deficient mice have reduced ABCs and impaired humoral immunity. We describe patient with inherited deficiency largely normal immunity including intact somatic hypermutation, affinity maturation memory formation in vivo, differentiation into Ig-producing plasmablasts vitro. Nevertheless, exhibited skewed class switching to IgG1,...
Human USP18 is an interferon (IFN)-stimulated gene product and a negative regulator of type I IFN (IFN-I) signaling. It also removes covalently linked ISG15 from proteins, in process called deISGylation. In turn, prevents being degraded by the proteasome. Autosomal recessive complete deficiency life-threatening infancy owing to uncontrolled IFN-I–mediated autoinflammation. We report three Moroccan siblings with autoinflammation mycobacterial disease who are homozygous for new variant....
X-linked recessive deficiency of TLR7, a MyD88- and IRAK-4–dependent endosomal ssRNA sensor, impairs SARS-CoV-2 recognition type I IFN production in plasmacytoid dendritic cells (pDCs), thereby underlying hypoxemic COVID-19 pneumonia with high penetrance. We report 22 unvaccinated patients autosomal MyD88 or IRAK-4 infected (mean age: 10.9 yr; 2 mo to 24 yr), originating from 17 kindreds eight countries on three continents. 16 were hospitalized: six moderate, four severe, critical pneumonia,...
STAT2 is a transcription factor activated by type I and III interferons. We report 23 patients with loss of function variants causing autosomal recessive (AR), complete deficiency. Both cells transfected mutant alleles the patients' display impaired expression interferon stimulated genes control in-vitro viral infections. Clinical manifestations from early childhood onward include severe adverse reaction to live attenuated vaccines (LAV, 12/17 patients) infections (10/23 patients),...
We have described a child suffering from Mendelian susceptibility to mycobacterial disease (MSMD) due autosomal recessive, complete T-bet deficiency, which impairs IFN-γ production by innate and innate-like adaptive, but not mycobacterial-reactive purely lymphocytes. Here, we explore the persistent upper airway inflammation (UAI) blood eosinophilia of this patient. Unlike wild-type (WT) T-bet, mutant form patient did inhibit Th2 cytokines, including IL-4, IL-5, IL-9, IL-13, when...
Patients with inherited CARMIL2 or CD28 deficiency have defective T cell signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three isoforms is produced functional across leukocyte subsets. Tested mutant alleles from 89 patients 52 families impair canonical NF-κB not AP-1 NFAT activation in cells stimulated via CD28. Like CD28-deficient patients, CARMIL2-deficient display recalcitrant warts low blood counts CD4+ CD8+ memory TREGs. Unlike...
We studied a child with severe viral, bacterial, fungal, and parasitic diseases, who was homozygous for loss-of-function mutation of REL, encoding c-Rel, which is selectively expressed in lymphoid myeloid cells. The patient had low frequencies NK, effector memory cells reexpressing CD45RA (Temra) CD8+ T cells, CD4+ including Th1 Th1*, Tregs, B whereas the counts proportions other leukocyte subsets were normal. Functional deficits included abolition IL-12 IL-23 production by conventional DC1s...
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to deficiency glucose-6-phosphate translocase. This characterized impaired glycogenolysis and gluconeogenesis, resulting clinical manifestations. We report three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, developmental delays. Laboratory analysis revealed hypoglycemia, elevated triglyceride levels,...
Pediatric sepsis remains a leading cause of morbidity and mortality in Africa. Nearly half pediatric deaths occur previously healthy children. The role inborn errors immunity (IEI) susceptibility to is yet be identified their prevalence amongst children admitted the intensive care unit (PICU) unclear. We aimed assess IEI among cohort PICU for community acquired describe demographic, microbiological, genetic features this cohort. listed our from January 2021 March 2023. Demographic data was...
Abstract Introduction Increasing evidence supports the involvement of inborn errors immunity (IEI) in severe infections, but little is known about prevalence these genetic defects children with sepsis. Due to limited understanding molecular and immunological mechanisms driving sepsis, testing rarely used routine diagnostics identify susceptibility condition. Methods We performed a prospective observational study on previously healthy hospitalized for including Patients underwent...
Unusual viral skin infections might be the first clinical manifestation in children with an inborn error of immunity (IEI). We performed a prospective study from 1 October 2017 to 30 September 2021, at Department Pediatric Infectious Diseases and Clinical Immunity Ibn Rochd University Hospital-Casablanca. During this period, on 591 patients newly diagnosed probable IEI, eight them (1.3%), six independent families, had isolated or syndromic unusual infections, which were either profuse,...