Kathryn Payne
A5003583575- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Ovarian cancer diagnosis and treatment
- CAR-T cell therapy research
- Parvovirus B19 Infection Studies
- Signaling Pathways in Disease
- Vascular Malformations and Hemangiomas
- Complement system in diseases
- Reading and Literacy Development
- Viral Infections and Immunology Research
- Fungal Infections and Studies
- biodegradable polymer synthesis and properties
- Dermatology and Skin Diseases
- Autoimmune and Inflammatory Disorders
- Cell Adhesion Molecules Research
- Congenital Ear and Nasal Anomalies
- Chromatin Remodeling and Cancer
- Pesticide and Herbicide Environmental Studies
- Cytokine Signaling Pathways and Interactions
- Gender, Feminism, and Media
- Heparin-Induced Thrombocytopenia and Thrombosis
- NF-κB Signaling Pathways
- Immune responses and vaccinations
- Infectious Disease Case Reports and Treatments
University Medical Center Freiburg
2022-2024
Garvan Institute of Medical Research
2015-2024
University of Freiburg
2020-2023
UNSW Sydney
2022
Auckland City Hospital
2013-2020
GlaxoSmithKline (United Kingdom)
2020
Auckland District Health Board
2019
University of Washington
2010
Homozygosity for the P1104A missense variant of TYK2 Janus kinase is common monogenic etiology primary tuberculosis.
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...
T cell–derived IFNγ and CD40L/IL-21R signals are crucial for the differentiation of human T-bet high CD21 low B cells.
Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B because the cell deficit or an additional cell–intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, mouse orthologue which is essential for CD28 signaling. The have cutaneous and pulmonary allergy, as well a variety bacterial fungal infectious diseases, including invasive tuberculosis mucocutaneous candidiasis....
Gain-of-function (GOF) mutations in PIK3CD, encoding the p110δ subunit of phosphatidylinositide 3-kinase (PI3K), cause a primary immunodeficiency. Affected individuals display impaired humoral immune responses following infection or immunization. To establish mechanisms underlying these defects, we studied large cohort patients with PIK3CD GOF and established novel mouse model using CRISPR/Cas9-mediated gene editing to introduce common pathogenic mutation Pik3cd. In both species, hyperactive...
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,...
The association between cancer and autoimmune disease is unexplained, exemplified by T cell large granular lymphocytic leukemia (T-LGL) where gain-of-function (GOF) somatic STAT3 mutations correlate with co-existing autoimmunity. To investigate whether these are the cause or consequence of CD8+ clonal expansions autoimmunity, we analyzed patients mice germline GOF mutations. drove accumulation effector clones highly expressing NKG2D, receptor for stress-induced MHC-class-I-related molecules....
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....
Unconventional T cells such as γδ cells, natural killer (NKT cells) and mucosal-associated invariant (MAIT are a major component of the immune system; however, cytokine signaling pathways that control their development function in humans unknown. Primary immunodeficiencies caused by single gene mutations provide unique opportunity to investigate role specific molecules regulating human lymphocyte function. We found individuals with loss-of-function STAT3 had reduced numbers peripheral blood...
Human JNK1 is essential for IL-17A/F–dependent mucocutaneous immunity to Candida and TGF-β–dependent homeostasis of connective tissues.
Human CD21low B cells are expanded in autoimmune (AI) diseases and display a unique phenotype with high expression of co-stimulatory molecules, compatible potential role as antigen-presenting (APCs). Thus, we addressed the capacity naïve-like, IgM-memory, switched memory CD27negIgDneg allogenic co-cultures CD4 T cells. patients AI disorders expressed levels not only CD86, CD80, HLA-DR (memory cells) but also PD-L1 ex vivo efficiently co-stimulated healthy donors (HD), measured by...
A 28-color panel was developed to screen for a range of lymphocyte subsets in human peripheral blood mononuclear cells (PBMCs), particularly patients with primary immunodeficiency (PID). Using this panel, we are able avoid running the sample over multiple screening panels while still deeply phenotyping diverse including innate like lymphocytes (γδ, mucosal-associated invariant T [MAIT], natural killer [NK], and NKT cells), as well naïve memory CD4+ CD8+ cells, B cells. Specifically, naïve,...
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...
Infants with biallelic IL7R loss-of-function variants have severe combined immune deficiency (SCID) characterized by the absence of autologous T lymphocytes, but normal counts circulating B and NK cells (T-B+NK+ SCID). We report 6 adults (aged 22 to 59 years) from 4 kindreds 3 ancestries (Colombian, Israeli Arab, Japanese) carrying homozygous IL7 resulting in immunodeficiency (CID). Deep immunophenotyping revealed relatively and/or proportions myeloid, B, NK, innate lymphoid cells. By...
The aim of this study was to explore the clinical utility microRNAs (miRNAs) as improved markers ovarian granulosa cell tumours (GCTs) for cancer diagnosis and prognosis prediction. Current histopathological genetic markers, such presence a FOXL2 gene mutation distinguish between two major subtypes are not wholly accurate novel biomarkers warranted. miRNA expression profiles five formalin-fixed, paraffin-embedded (FFPE) adult-GCTs juvenile-GCTs were assessed using Affymetrix 3.0 Arrays...