A5014580379- Immunodeficiency and Autoimmune Disorders
- Mycobacterium research and diagnosis
- Immune Cell Function and Interaction
- Blood disorders and treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- Inflammasome and immune disorders
- Tuberculosis Research and Epidemiology
- Genomic variations and chromosomal abnormalities
- Asthma and respiratory diseases
- Monoclonal and Polyclonal Antibodies Research
- Radiomics and Machine Learning in Medical Imaging
- Phagocytosis and Immune Regulation
- Whipple's Disease and Interleukins
- Tumors and Oncological Cases
- Immunotherapy and Immune Responses
- Immune Response and Inflammation
- SARS-CoV-2 detection and testing
- Machine Learning in Healthcare
- Systemic Lupus Erythematosus Research
- Atherosclerosis and Cardiovascular Diseases
- Long-Term Effects of COVID-19
- Blood groups and transfusion
- Immune cells in cancer
Baylor College of Medicine
2022-2025
Texas Children's Hospital
2022-2025
Hospital Infantil de México Federico Gómez
2022-2025
Institut des Maladies Génétiques Imagine
2016-2022
Université Paris Cité
2018-2022
Universidad Nacional Autónoma de México
2022
Inserm
2016-2021
Consejo Nacional de Humanidades, Ciencias y Tecnologías
2021
Instituto Politécnico Nacional
2014-2021
Tecnológico Nacional de México
2021
Hundreds of patients with autosomal recessive, complete IL-12p40 or IL-12Rβ1 deficiency have been diagnosed over the last 20 years. They typically suffer from invasive mycobacteriosis and, occasionally, mucocutaneous candidiasis. Susceptibility to these infections is thought be due impairments IL-12-dependent IFN-γ immunity and IL-23-dependent IL-17A/IL-17F immunity, respectively. We report here IL-12Rβ2 IL-23R deficiency, lacking responses IL-12 IL-23 only, all whom, unexpectedly, display...
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding p40phox subunit phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families 8 countries. These display different in-frame or out-of-frame that are homozygous 11 and compound heterozygous another. When overexpressed NB4 neutrophil-like cells EBV-transformed B vitro, mutant alleles were found to be LOF, with exception p.R58C c.120_134del alleles,...
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....
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...
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by clinical caused weakly virulent mycobacteria, such as environmental mycobacteria and Bacillus Calmette–Guérin vaccines, in otherwise healthy individuals. All known genetic etiologies disrupt interferon (IFN)-γ immunity. Germline bi-allelic mutations of IFNGR2 can underlie partial or complete forms IFN-γ receptor 2 (IFN-γR2) deficiency. Patients with IFN-γR2 deficiency express a dysfunctional molecule on the cell...
The implementation and validation of anti-SARS-CoV-2 IgG serological assays are reported in this paper. S1 RBD proteins were used to coat ELISA plates, several secondary antibodies served as reporters. initially validated with 50 RT-PCR positive COVID-19 sera, which showed high titers mainly IgG1 isotype, followed by IgG3. Low or no IgG2 IgG4 detected. Then, the RBD/IgG assay was further 887 serum samples from individuals collected at different times, including 7, 14, 21, 40 days after onset...
Mycobacterium tuberculosis (Mtb) inhibits dendritric cells (DC) function in order to delay T cell response. Furthermore, there is increasing evidence that genetic diversity of Mtb strains can affect their interaction with the immune system. Beijing genotype has attracted attention because its high prevalence and multi-drug resistance. Although it known this hypervirulent differentially activates macrophages when compared other genotypes, little about DC. In address issue, murine bone marrow...
Hypomorphic mutations of the nuclear factor κB essential modulator gene (NEMO) result in a wide range clinical phenotypes, including ectodermal dysplasia (EDA) with immunodeficiency and Mendelian susceptibility to mycobacterial disease [1–3]. Mycobacterial infectious diseases are reported about 40% patients NEMO mutation We report patient novel who presented disseminated infection leading increased ferritin levels no signs EDA.
Summary The dissection of factors that contribute to COVID-19 infection and severity has overwhelmed the scientific community for almost 2 years. Current reports highlight role in disease incidence, progression, severity. Here, we aimed confirm presence previously reported genetic variants an admixed population. Allele frequencies were assessed compared between general population (N=3079) which at least 30% have not been infected with SARS-CoV2 as per July 2021 versus patients (N=106)....
Introduction Systemic lupus erythematosus is a multi-faceted autoimmune disorder of complex etiology. Pre-pubertal onset pediatric systemic (pSLE) uncommon and should raise suspicion for genetic driver disease. Autosomal recessive p40 phox deficiency rare immunologic characterized by defective but not abolished NADPH oxidase activity with residual production reactive oxygen species (ROS) phagocytic cells. Case presentation We report the case now 18-year-old female pSLE at 7 years age. She...