Area of research
Immunology · Genetics
Research interest
Belz G; Tangye SG; Liston A , 2012 , 'A new ICB sister journal focuses on clinical and translational immunology' , Clinical and Translational Immunology , 1 , http://dx.doi.org/10.1038/cti.2012.3
Expanding the scope of human immunology in the <i>Journal of Human Immunity</i>.
Mosaic variants in KRAS and STAT5B associated with a mixed phenotype of 2 acquired errors of immunity.
Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.
NK cell dysfunction and interferon-γ production underlie autoinflammation in mevalonate kinase deficiency
Human CD21loT-bet+ B cells: Not as easy as “ABC”!
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function.
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity
Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.
The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.
Human LY9 governs CD4 <sup>+</sup> T cell IFN-γ immunity to <i>Mycobacterium tuberculosis</i>
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.
Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.
Curation of gene–disease relationships in primary antibody deficiencies using the ClinGen validation framework
Human LY9 governs CD4<sup>+</sup> T cell IFN-γ immunity to <i>Mycobacterium tuberculosis</i>.
Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2.
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4<sup>+</sup> IL-9-expressing cells.
The seven enigmas of SARS-CoV-2: from the past to the future.
PI3K GOF leads to dysregulation of T and B cells that both contribute to extrinsically driving activation and differentiation of other CD4<sup>+</sup> T cells.
Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice
Tuberculosis in otherwise healthy adults with inherited TNF deficiency
Role of IL-27 in Epstein–Barr virus infection revealed by IL-27RA deficiency
Auto-Abs neutralizing type I IFNs in patients with severe Powassan, Usutu, or Ross River virus disease
Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
Helper T cell immunity in humans with inherited CD4 deficiency
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity