Helen C. Su
A5014247790- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Blood disorders and treatments
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- T-cell and B-cell Immunology
- Diabetes and associated disorders
- Chronic Lymphocytic Leukemia Research
- Metabolism and Genetic Disorders
- Insect Pest Control Strategies
- interferon and immune responses
- Corneal surgery and disorders
- Respiratory viral infections research
- Cytomegalovirus and herpesvirus research
- NF-κB Signaling Pathways
- Liver Disease Diagnosis and Treatment
- Immune Response and Inflammation
- Pediatric Hepatobiliary Diseases and Treatments
- Cystic Fibrosis Research Advances
- Parvovirus B19 Infection Studies
- Gastrointestinal disorders and treatments
- Long-Term Effects of COVID-19
- PI3K/AKT/mTOR signaling in cancer
- Cell death mechanisms and regulation
- Gallbladder and Bile Duct Disorders
National Institute of Allergy and Infectious Diseases
2016-2025
National Institutes of Health
2016-2025
Office of Extramural Research
2019-2025
University of Pennsylvania
1964-2025
ActionAid
2025
University of Cambridge
2025
Hospital Universitario Infanta Leonor
2022-2024
Johns Hopkins Hospital
2024
Hôpital Bichat-Claude-Bernard
2024
Assistance Publique – Hôpitaux de Paris
2024
Interindividual clinical variability in the course of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is vast. We report that at least 101 987 patients with life-threatening disease 2019 (COVID-19) pneumonia had neutralizing immunoglobulin G (IgG) autoantibodies (auto-Abs) against interferon-ω (IFN-ω) (13 patients), 13 types IFN-α (36), or both (52) onset critical disease; a few also auto-Abs other three type I IFNs. The neutralize ability corresponding IFNs to block...
Caspases play a central role in apoptosis, well-studied pathway of programmed cell death. Other programs death potentially involving necrosis and autophagy may exist, but their relation to apoptosis mechanisms regulation remains unclear. We define new molecular which activation the receptor-interacting protein (a serine-threonine kinase) Jun amino-terminal kinase induced with morphology autophagy. Autophagic required genes ATG7 beclin 1 was by caspase-8 inhibition. Clinical therapies caspase...
Abstract We report the updated classification of inborn errors immunity, compiled by International Union Immunological Societies Expert Committee. This documents key clinical and laboratory features 55 novel monogenic gene defects, 1 phenocopy due to autoantibodies, that have either been discovered since previous update (published January 2020) or were characterized earlier but confirmed expanded in subsequent studies. While variants additional genes associated with immune diseases reported...
Targeted delivery represents a promising approach for the development of safer and more effective therapeutics oncology applications. Although macromolecules accumulate nonspecifically in tumors through enhanced permeability retention (EPR) effect, previous studies using nanoparticles to deliver chemotherapeutics or siRNA demonstrated that attachment cell-specific targeting ligands surface leads potency relative nontargeted formulations. Here, we use positron emission tomography (PET)...
Cytotoxic T lymphocyte antigen-4 (CTLA-4) is an inhibitory receptor found on immune cells. The consequences of mutations in CTLA4 humans are unknown. We identified germline heterozygous subjects with severe dysregulation from four unrelated families. Whereas Ctla4 mice have no obvious phenotype, human haploinsufficiency caused FoxP3(+) regulatory (Treg) cells, hyperactivation effector and lymphocytic infiltration target organs. Patients also exhibited progressive loss circulating B...
Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features some variants combined immunodeficiency. The genetic causes these unknown.We collected longitudinal clinical data on 11 patients from eight families who had recurrent infections. We performed comparative genomic hybridization arrays targeted gene sequencing. Variants predicted loss-of-expression mutations were confirmed by means a quantitative reverse-transcriptase-polymerase-chain-reaction...
Trafficking from bedside to bench Typically in translational research, a discovery cell or molecular biology is later exploited improve patient care. Occasionally, information flows the opposite direction. Lo et al. found that patients with an autoimmune disorder caused by deficiency of protein called LRBA responded dramatically drug abatacept (see Perspective Sansom). Abatacept contains segment potent inhibitory immune receptor, CTLA4. Experiments prompted this observation revealed...
We wished to develop a highly selective positron emission tomography (PET) imaging agent targeting PHF-tau in human Alzheimer's disease (AD) brains.To screen potential tau binders, AD brain sections were used as source of native paired helical filament (PHF)-tau and Aβ rather than synthetic aggregates or fibrils generated vitro measure the affinity selectivity [(18)F]T807 Aβ. Brain uptake biodistribution mice also tested.In autoradiography results show that exhibits strong binding...
Caspase-8, a proapoptotic protease, has an essential role in lymphocyte activation and protective immunity. We show that caspase-8 deficiency (CED) humans mice specifically abolishes of the transcription factor nuclear kappaB (NF-kappaB) after stimulation through antigen receptors, Fc or Toll-like receptor 4 T, B, natural killer cells. Caspase-8 also causes alphabeta complex inhibitor NF-kappaB kinase (IKK) to associate with upstream Bcl10-MALT1 (mucosa-associated lymphatic tissue) adapter...
Immune and inflammatory responses to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) contribute disease severity of 2019 (COVID-19). However, the utility specific immune-based biomarkers predict clinical outcome remains elusive. Here, we analyzed levels 66 soluble in 175 Italian patients with COVID-19 ranging from mild/moderate critical assessed type I IFN–, II NF-κB–dependent whole-blood transcriptional signatures. A broad signature was observed, implicating activation various...
The magnesium transporter 1 (MAGT1) is a critical regulator of basal intracellular free (Mg(2+)) concentrations. Individuals with genetic deficiencies in MAGT1 have high levels Epstein-Barr virus (EBV) and predisposition to lymphoma. We show that decreased Mg(2+) causes defective expression the natural killer activating receptor NKG2D (NK) CD8(+) T cells impairs cytolytic responses against EBV. Notably, supplementation MAGT1-deficient patients restores while concurrently reducing...
Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP3 as a signal for cell growth and proliferation, exist an intracellular complex of catalytic subunit bound to regulatory subunit. We others have previously reported that heterozygous mutations in PIK3CD encoding the p110δ PI3K cause unique disorder termed p110δ-activating causing senescent T cells, lymphadenopathy, immunodeficiency (PASLI) disease. report four patients from three families with similar disease who harbor...
Patients with biallelic loss-of-function variants of AIRE suffer from autoimmune polyendocrine syndrome type-1 (APS-1) and produce a broad range autoantibodies (auto-Abs), including circulating auto-Abs neutralizing most type I interferons (IFNs). These were recently reported to account for at least 10% cases life-threatening COVID-19 pneumonia in the general population. We report 22 APS-1 patients 21 kindreds seven countries, aged between 8 48 yr infected SARS-CoV-2 since February 2020. The...
T cells are involved in the early identification and clearance of viral infections also support development antibodies by B cells. This central role for makes them a desirable target assessing immune response to SARS-CoV-2 infection. Here, we combined two high-throughput profiling methods create quantitative picture T-cell SARS-CoV-2. First, at individual level, deeply characterized 3 acutely infected 58 recovered COVID-19 subjects experimentally mapping their CD8 through antigen stimulation...