P. Hoffmann

发表

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors

P. Hawkins, J. Roesler, T. Youngstein, 2017, Rheumatology.

Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.

D. Kastner, N. Young, I. Obiorah, 2021, Blood advances.

Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2

P. Merkel, E. Remmers, D. Kastner, 2020, Arthritis & rheumatology.

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

D. Kastner, J. Chiorini, N. Sobreira, 2020, Journal of Clinical Immunology.

Dysregulated neutrophil responses and neutrophil extracellular trap formation and degradation in PAPA syndrome

D. Kastner, Hong-Wei Sun, S. Dell’Orso, 2018, Annals of the rheumatic diseases.

Brief Report: Connecting Two Pathways Through Ca2+ Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic PLCG2 Mutation

D. Kastner, J. Kehrl, P. Hoffmann, 2015, Arthritis & rheumatology.

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

D. Kastner, C. Toro, Michele E. Nehrebecky, 2022, Frontiers in Immunology.

TNF-inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

J. Burnham, D. Kastner, S. Rosenzweig, 2021, The Journal of allergy and clinical immunology.

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.

J. Mullikin, D. Kastner, W. Gahl, 2020, The New England journal of medicine.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

J. Mullikin, D. Kastner, Dan Yang, 2019, Nature.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

L. Notarangelo, D. Kastner, S. Rosenzweig, 2019, Front. Immunol..

A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

D. Kastner, S. Ozen, D. Schwartz, 2018, Annals of the rheumatic diseases.

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

J. Mullikin, Yuan Zhang, D. Kastner, 2015, Nature Genetics.

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20

D. Kastner, J. Milner, D. Schwartz, 2019, Annals of the rheumatic diseases.

Brief Report: Deficiency of Complement 1r Subcomponent in Early‐Onset Systemic Lupus Erythematosus: The Role of Disease‐Modifying Alleles in a Monogenic Disease

E. Remmers, D. Kastner, M. Gadina, 2017, Arthritis & rheumatology.

Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

D. Kastner, N. Young, Marcus Y. Chen, 2021, Arthritis & rheumatology.

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single‐cell RNA sequencing of monocytes

S. Kajigaya, N. Young, Shouguo Gao, 2021, Journal of leukocyte biology.

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

D. Kastner, J. Chiorini, N. Sobreira, 2020, Journal of Clinical Immunology.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

J. Mullikin, H. Kong, V. Pascual, 2014, The New England journal of medicine.

Brief Report: Anakinra Use During Pregnancy in Patients With Cryopyrin‐Associated Periodic Syndromes

D. Kastner, C. Spong, P. Stratton, 2014, Arthritis & rheumatology.

Treatment Strategies for Deficiency of Adenosine Deaminase 2.

D. Kastner, C. Toro, A. Soldatos, 2019, The New England journal of medicine.

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis

C. Rotimi, D. Shriner, E. Remmers, 2020, Nature Immunology.

Single‐cell profiling of T lymphocytes in deficiency of adenosine deaminase 2

Xingmin Feng, S. Kajigaya, Shouguo Gao, 2021, Journal of leukocyte biology.

Cryopyrin-associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation

E. Remmers, D. Kastner, A. Walts, 2015 .

Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.

E. Cowen, D. Stone, P. Hoffmann, 2016, Journal of the American Academy of Dermatology.

Early Onset Stroke, Polyarteritis Nodosa, and Livedo Racemosa

E. Cowen, D. Stone, P. Hoffmann, 2016 .

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.

D. Kastner, R. Tattersall, K. Calvo, 2022, Blood.

TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency

D. Kastner, C. Toro, A. Soldatos, 2023, Neurology: Neuroimmunology & Neuroinflammation.

Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features

D. Kastner, J. Milner, D. Schwartz, 2021, Annals of the Rheumatic Diseases.

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

K. Dobbs, B. Boisson, J. Toguchida, 2024, Nature immunology.

Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne

D. Stone, P. Hoffmann, J. Chae, 2024, Annals of the Rheumatic Diseases.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

D. Kastner, C. Biben, S. Rosenzweig, 2019, Nature.