Mohammad Shahrooei
A5084366321- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Bacterial biofilms and quorum sensing
- Antimicrobial Resistance in Staphylococcus
- Diabetes and associated disorders
- Autoimmune and Inflammatory Disorders Research
- Inflammasome and immune disorders
- Biochemical and Structural Characterization
- Blood disorders and treatments
- Antimicrobial Peptides and Activities
- interferon and immune responses
- Immune Response and Inflammation
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- SARS-CoV-2 and COVID-19 Research
- Respiratory viral infections research
- NF-κB Signaling Pathways
- Neurogenetic and Muscular Disorders Research
- Pediatric health and respiratory diseases
- Neonatal Respiratory Health Research
- T-cell and B-cell Immunology
- Lysosomal Storage Disorders Research
- Plant-Microbe Interactions and Immunity
- Kawasaki Disease and Coronary Complications
- Congenital Diaphragmatic Hernia Studies
- Genetics and Neurodevelopmental Disorders
KU Leuven
2016-2025
Tehran University of Medical Sciences
2024-2025
Sina Hospital
2018-2024
Rockefeller University
2022-2024
Isfahan Fertility and Infertility Center
2022
Shahid Beheshti University of Medical Sciences
2022
University of Lausanne
2022
Shahid Chamran University of Ahvaz
2016-2021
University of Alberta
2012
The genetics underlying severe COVID-19 immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals lack specific IFNs can be more susceptible to infectious diseases. Furthermore, the autoantibody dampens IFN response prevent damage from pathogen-induced inflammation. Two studies now examine likelihood affects risk of coronavirus disease 2019 (COVID-19) through components this (see Perspective by Beck Aksentijevich). Q....
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean: 36.7 years) from a cohort 1,202 patients 0.5 99 52.9 with unexplained pneumonia. None the 331 asymptomatically or mildly infected 1.3 102 38.7 tested carry such (p = 3.5 × 10-5). The phenotypes five hemizygous relatives...
Vaccination against measles, mumps, and rubella (MMR) yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines be caused inborn errors of type I and/or III interferon (IFN) immunity (mutations in IFNAR2, STAT1, or STAT2). Adverse reactions to the YF vaccine have remained unexplained. We report two otherwise healthy patients, a 9-yr-old boy Iran severe measles disease at 1 yr 14-yr-old girl Brazil viscerotropic 12 yr. The Iranian...
STAT6 (signal transducer and activator of transcription 6) is a factor that plays central role in the pathophysiology allergic inflammation. We have identified 16 patients from 10 families spanning three continents with profound phenotype early-life onset immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, anaphylaxis. The cases were either sporadic (seven...
Abstract Background We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent interferon (IFN) immunity or autoantibodies against IFN, account for 15–20% cases life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants remain be identified ~ 80% cases. Methods report here a genome-wide rare variant burden association analysis 3269 patients with COVID-19, 1373 SARS-CoV-2-infected individuals without pneumonia. Among 928...
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due impaired IFN-γ production and, less commonly, chronic mucocutaneous candidiasis (CMC) IL-17A/F production. We report six patients from four kindreds AR IL-23R deficiency. These are homozygous for one of different loss-of-function IL23R variants. All have a history MSMD, but only two suffered CMC. show that IL-23 induces IL-17A in MAIT cells, possibly...
The molecular basis of interindividual clinical variability upon infection with Staphylococcus aureus is unclear. We describe patients haploinsufficiency for the linear deubiquitinase OTULIN, encoded by a gene on chromosome 5p. Patients suffer from episodes life-threatening necrosis, typically triggered S. infection. disorder phenocopied in 5p- (Cri-du-Chat) chromosomal deletion syndrome. OTULIN causes an accumulation ubiquitin dermal fibroblasts, but tumor necrosis factor receptor-mediated...
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...
We describe a human lung disease caused by autosomal recessive, complete deficiency of the monocyte chemokine receptor C-C motif 2 (CCR2). Nine children from five independent kindreds have pulmonary alveolar proteinosis (PAP), progressive polycystic disease, and recurrent infections, including bacillus Calmette Guérin (BCG) disease. The CCR2 variants are homozygous in six patients compound heterozygous three, all loss-of-expression loss-of-function. They abolish CCR2-agonist ligand...
We describe humans with rare biallelic loss-of-function PTCRA variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ counts at birth persisted over time, normal memory and high γδ counts. Their TCRα repertoire was biased, which suggests that noncanonical thymic differentiation pathways can rescue development. Only a minority of these individuals were sick, infection, lymphoproliferation, and/or autoimmunity. also report 1 in 4000 from the Middle East South...
FMS-related tyrosine kinase 3 ligand (FLT3L), encoded by FLT3LG, is a hematopoietic factor essential for the development of natural killer (NK) cells, B and dendritic cells (DCs) in mice. We describe three humans homozygous loss-of-function FLT3LG variant with history various recurrent infections, including severe cutaneous warts. The patients' bone marrow (BM) was hypoplastic, low levels progenitors, particularly myeloid cell precursors. Counts monocytes, DCs were blood, whereas other blood...
The Nck-associated protein 1–like (NCKAP1L) gene, alternatively called hematopoietic 1 (HEM-1), encodes a lineage–specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for first time, NCKAP1L deficiency cases humans. In two unrelated patients Middle Eastern origin, recessive mutations abolishing expression led to immunodeficiency, lymphoproliferation, hyperinflammation with...
Aggregation is a sequence-specific process, nucleated by short aggregation-prone regions (APRs) that can be exploited to induce aggregation of proteins containing the same APR. Here, we find most APRs are unique within proteome, but small minority occur in many proteins. When bacteria such frequently occurring APRs, it leads massive and lethal inclusion body formation large number Buildup bacterial resistance against these peptides slow. In addition, approach effective drug-resistant...
Human inherited disorders of interferon-gamma (IFN-γ) immunity underlie severe mycobacterial diseases. We report X-linked recessive MCTS1 deficiency in men with disease from kindreds different ancestries (from China, Finland, Iran, and Saudi Arabia). Complete this translation re-initiation factor impairs the a subset proteins, including kinase JAK2 all cell types tested, T lymphocytes phagocytes. expression is sufficiently low to impair cellular responses interleukin-23 (IL-23) partially...
ABSTRACT The increased use of medical implants has resulted in a concomitant rise device-related infections. majority these infections are caused by Staphylococcus epidermidis biofilms. Immunoprophylaxis and immunotherapy targeting vivo -expressed, biofilm-associated, bacterial cell surface-exposed proteins promising new approaches to prevent treat biofilm-related infections, respectively. Using an silico procedure, we identified 64 that predicted be S . e pidermidis s urface exposed (Ses),...
ABSTRACT Several well-studied proteins with defined roles in Staphylococcus epidermidis biofilm formation are LPXTG motif-containing proteins. Here, we investigate the possible use of protein SesC ( S . surface C; accession no. NP_765787) as a target for antibodies to prevent formation. In vitro and vivo rat model catheter infection, gene expression analysis showed that is expressed more strongly biofilm-associated cells than planktonic particularly during late phase Polyclonal rabbit raised...
Patients with autosomal recessive protein kinase C δ (PKCδ) deficiency suffer from childhood-onset autoimmunity, including systemic lupus erythematosus. They also recurrent infections that overlap those seen in patients chronic granulomatous disease (CGD), a caused by defects of the phagocyte NADPH oxidase and lack reactive oxygen species (ROS) production. We studied an international cohort 17 PKCδ-deficient found their EBV-B cells monocyte-derived phagocytes produced only small amounts ROS...