D. Stone

发表

Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes.

S. Paul, J. Butman, C. Brewer, 2012, Arthritis and rheumatism.

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

J. K. Park, E. Sidransky, V. Koprivica, 2000, American journal of human genetics.

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

E. Sidransky, D. Stone, N. Tayebi, 2000, Human mutation.

The Systemic Autoinflammatory Diseases: Coming of Age with the Human Genome.

E. Remmers, D. Kastner, D. Stone, 2020, The Journal of allergy and clinical immunology.

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

P. Gregersen, P. Babyn, E. Remmers, 2009, The New England journal of medicine.

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

K. Jacobson, D. Kastner, D. Stone, 2019, Blood.

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

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

Genetic and physical mapping of the McKusick-Kaufman syndrome.

A A Schäffer, J. Weber, R. Agarwala, 1998, Human molecular genetics.

A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease

J. Butman, C. Brewer, C. Zalewski, 2014, Annals of the rheumatic diseases.

Type 2 Gaucher disease: the collodion baby phenotype revisited

J. Christodoulou, E. Sidransky, D. Stone, 2000, Archives of disease in childhood. Fetal and neonatal edition.

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.

Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

J. Mullikin, E. Remmers, D. Kastner, 2016, Proceedings of the National Academy of Sciences.

Excess Serum Interleukin‐18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1

D. Kastner, C. Gabay, D. Stone, 2021, medRxiv.

Type 2 gaucher disease: an expanding phenotype.

E. Sidransky, D. Stone, N. Tayebi, 1999, Molecular genetics and metabolism.

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

E. Sidransky, R. Willemsen, D. Stone, 1999, European Journal of Human Genetics.

Hydrops fetalis: lysosomal storage disorders in extremis.

E. Sidransky, D. Stone, Deborah L. Stone, 1999, Advances in pediatrics.

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.

Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseThis article is a US Government work and, as such, is in the public domain in the United States of America.

E. Sidransky, D. Stone, N. Tayebi, 2000 .

Supplemental Data Additive Loss-of-Function Mutations in Proteasome-Subunit-Genes induce Type-I-interferon production in CANDLE / PRAAS

E. Remmers, A. Mégarbané, K. Rother, 2015 .

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

W. C. Owen, M. Hafner, A. Šedivá, 2018, Annals of the rheumatic diseases.

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.

Characterization of familial partial 10p trisomy by chromosomal microdissection, FISH, and microsatellite dosage analysis

M. Kaiser-Kupfer, L. Biesecker, Y. Ning, 1996, Human Genetics.

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

D. Foell, S. Holland, S. Paul, 2018, The Journal of clinical investigation.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

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

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.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

E. Remmers, D. Kastner, A. Mégarbané, 2016, Journal of Clinical Investigation.

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Qing Zhou, Susan Moir, Matilda Katan, 2012, American journal of human genetics.

Activated STING in a vascular and pulmonary syndrome.

Ha Won Kim, J. Hughes, J. McElwee, 2014, The New England journal of medicine.

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.

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

G. Bouffard, L. Biesecker, A. Baxevanis, 2000, 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.

Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association.

L. Biesecker, D. Stone, 1997, American journal of medical genetics.

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

E. Remmers, D. Kastner, A. Mégarbané, 2015, The Journal of clinical investigation.

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.

Erratum: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production (Journal of Clinical Investigation (2015) 125:11 (4196-4211) DOI: 10.1172/JCI81260)

E. Remmers, D. Kastner, A. Mégarbané, 2016 .

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.

Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

J. G. Ryan, D. Kastner, Hong-Wei Sun, 2012, Annals of the rheumatic diseases.

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

E. Ginns, E. Sidransky, D. Stone, 2000, Journal of medical genetics.

Case report: Novel variants in RELA associated with familial Behcet’s-like disease

D. Kastner, R. Laxer, D. Stone, 2023, Frontiers in Immunology.

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 .

Life‐threatening splenic hemorrhage in two patients with Gaucher disease

E. Ginns, D. Krasnewich, E. Sidransky, 2000, American journal of hematology.

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

E. Ginns, E. Sidransky, V. Koprivica, 1999, Human Genetics.

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.

J. K. Park, E. Sidransky, V. Koprivica, 2001, American journal of medical genetics.

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.

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.