Jamila El Baghdadi
A5069720425- Immunodeficiency and Autoimmune Disorders
- Tuberculosis Research and Epidemiology
- Mycobacterium research and diagnosis
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Respiratory viral infections research
- Biochemical Analysis and Sensing Techniques
- SARS-CoV-2 and COVID-19 Research
- Regulation of Appetite and Obesity
- Diagnosis and treatment of tuberculosis
- Infectious Diseases and Tuberculosis
- interferon and immune responses
- Diabetes and associated disorders
- Immune Response and Inflammation
- COVID-19 Clinical Research Studies
- Pneumonia and Respiratory Infections
- Acute Lymphoblastic Leukemia research
- BRCA gene mutations in cancer
- Genomics and Chromatin Dynamics
- Neurobiology and Insect Physiology Research
- Receptor Mechanisms and Signaling
- RNA and protein synthesis mechanisms
- DNA Repair Mechanisms
- Antifungal resistance and susceptibility
- Chronic Lymphocytic Leukemia Research
Mohammed V University
2013-2025
Hôpital Militaire Moulay Ismail
2005-2022
University of Hassan II Casablanca
2022
Military Hospital
2004-2016
Children's Hospital of Chongqing Medical University
2010
Ministry of Health
2010
Karolinska University Hospital
2010
National Hospital
2010
Montreal General Hospital
2006
McGill University
2006
Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral genital mucosae caused Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious autoimmune manifestations. We report two genetic etiologies CMCD: autosomal recessive deficiency cytokine receptor, interleukin-17 receptor A (IL-17RA), dominant interleukin-17F (IL-17F). IL-17RA complete, abolishing cellular responses...
Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey 141 patients from 102 kindreds in 30 countries. Among probands, first infection occurred at a mean age 2.4 years. In 78 patients, this was caused by Bacille Calmette-Guérin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n 9) Mycobacterium tuberculosis 4). Twenty-two...
Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families four different ethnic groups. These were homozygous for one null mutations, that seen P1. They displayed mycobacterial and/or infections, but no HIES. All eight impaired...
Homozygosity for the P1104A missense variant of TYK2 Janus kinase is common monogenic etiology primary tuberculosis.
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk children, which is much lower than adults, remains unexplained. In an international cohort 112 children (<16 yr old) hospitalized for pneumonia, we report 12 (10.7%) aged 1.5–13 with (7 children), severe (3), and moderate (2) 4 the 15 known clinically recessive biochemically complete IFN immunity: X-linked TLR7 deficiency children) autosomal...
Autoantibodies neutralizing type I interferons (IFNs) can underlie critical COVID-19 pneumonia and yellow fever vaccine disease. We report here on 13 patients harboring autoantibodies IFN-α2 alone (five patients) or with IFN-ω (eight from a cohort of 279 (4.7%) aged 6–73 yr influenza pneumonia. Nine four had antibodies high low concentrations, respectively, IFN-α2, six two IFN-ω. The patients’ increased A virus replication in both A549 cells reconstituted human airway epithelia. prevalence...
Background and Objectives In the last decade, autosomal recessive IL-12Rβ1 deficiency has been diagnosed in four children with severe tuberculosis from three unrelated families Morocco, Spain, Turkey, providing proof-of-principle that otherwise healthy may result single-gene inborn errors of immunity. We aimed to estimate fraction developing due areas endemic for where parental consanguinity is common. Methods Principal Findings searched IL12RB1 mutations a series 50 Iran, Turkey. All had...
Naive CD4+ T cells differentiate into specific effector subsets—Th1, Th2, Th17, and follicular helper (Tfh)—that provide immunity against pathogen infection. The signaling pathways involved in generating these are partially known. However, the effects of mutations underlying human primary immunodeficiencies on processes, how they compromise immune responses, remain unresolved. By studying individuals with key pathways, we identified nonredundant regulating cell differentiation vitro....
Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-α/β (underlying viral diseases in the patients) and IL-12 IL-23 mycobacterial diseases). Cells common P1104A allele selectively impaired isolated disease). We report three new forms of deficiency six patients from five families (R864C, G996R, G634E, or G1010D) compound heterozygous a (A928V). All these missense encode detectable proteins. The R864C G1010D are...
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, clinical features of seven IRF7-deficient from six families five ancestries. Five were homozygous two compound heterozygous for variants. Patients typically had one...
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,...
Two siblings with interleukin-12 receptor β1 (IL-12Rβ1) deficiency but different clinical phenotypes were studied. Both are homozygous for an IL12RB1 missense mutation that prevents expression and abolishes cellular responses to IL-12. Transfection of the patients' T cells wild-type restored IL-12Rβ1 function. One patient had expected phenotype disseminated bacille Calmette-Guérin (BCG) infection in early childhood, whereas other did not develop BCG infection, despite 3 inoculations live...
The molecular basis of genetic predisposition to pulmonary tuberculosis in adults remains largely elusive. Few candidate genes have consistently been implicated susceptibility, and no conclusive linkage was found two previous genome-wide screens. We report here a study total sample 96 Moroccan multiplex families, including 227 siblings with microbiologically radiologically proven tuberculosis. A scan conducted half the (48 families) identified five regions providing suggestive evidence...
Principal component analysis (PCA), homozygosity rate estimations, and linkage studies in humans are classically conducted through genome-wide single-nucleotide variant arrays (GWSA). We compared whole-exome sequencing (WES) GWSA for this purpose. analyzed 110 subjects originating from different regions of the world, including North Africa Middle East, which poorly covered by public databases have high consanguinity rates. tested applied a number quality control (QC) filters. Compared with...
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of variable immunodeficiency (CVID). However, causal link between variants and CVID has not been demonstrated experimentally genetically, there insufficient biochemical characterization enrichment analysis. We show that cotransfection NFKB1-deficient HEK293T cells (lacking both p105 its cleaved form p50) with a κB reporter, NFKB1/p105, homodimerization-defective RELA/p65 mutant results in p50:p65...
Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be negative (DN), and it has recently suggested that eight out-of-frame operate by haploinsufficiency. We tested these 143 variants, 7 novel found in HIES patients, other from general population. Strikingly, all 15 were DN via their encoded (1) truncated proteins, (2) neoproteins generated a translation...
Worldwide variation in the distribution of BRCA mutations is well recognised, and for Moroccan population no comprehensive studies about mutation spectra or frequencies have been published.We therefore performed analysis BRCA1 gene 121 women diagnosed with breast cancer.All cases completed epidemiology family history questionnaires provided a DNA sample testing.Mutation was by direct sequencing all coding exons flanking intron sequences gene.31.6 % (6/19) familial 1 (1/102) early-onset...