A. Ombrello

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CD4/CD8 T-Cell Selection Affects Chimeric Antigen Receptor (CAR) T-Cell Potency and Toxicity: Updated Results From a Phase I Anti-CD22 CAR T-Cell Trial.

S. Steinberg, M. Stetler-Stevenson, D. Stroncek, 2020, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Measurement of autoantibodies in pediatric-onset systemic lupus erythematosus and their relationship with disease-associated manifestations.

T. Moore, R. Burlingame, B. Gilliam, 2012, Seminars in arthritis and rheumatism.

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 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.

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Alexander H. Yang, D. Kastner, H. Takada, 2022, Annals of the Rheumatic Diseases.

Development of the autoinflammatory disease damage index (ADDI)

S. Ozen, E. Hachulla, A. Martini, 2016, Pediatric Rheumatology.

Modern Therapies in AA Amyloidosis

A. Ombrello, 2012 .

The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey

N. Wulffraat, D. Rigante, S. Vastert, 2018, Pediatric Rheumatology.

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.

Anakinra utilization in refractory pediatric CAR T-cell associated toxicities

S. Maude, H. Shalabi, N. Shah, 2022, Blood advances.

Periodic Illness Associated With Epstein-Barr Virus: A New Diagnosis After a 22-Year Follow-up.

J. Cohen, L. Dropulic, Mir A. Ali, 2016, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients

A. Schulz, S. Holland, A. Hsu, 2021, Journal of Clinical Immunology.

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.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors

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

Myelodysplasia and Bone Marrow Manifestations of Somatic UBA1 Mutated Autoinflammatory Disease

D. Kastner, N. Young, S. Burgess, 2020 .

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.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Christina Lam, C. Ferreira, A. Freeman, 2021, Genetics in Medicine.

Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases.

D. Foell, E. Hoppenreijs, S. Holland, 2015, The Journal of allergy and clinical immunology.

Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis

R. DeBiasi, E. Remmers, D. Kastner, 2020, Proceedings of the National Academy of Sciences.

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.

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.

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.

Deficiency of adenosine deaminase 2: Is it an elephant after all?

D. Kastner, O. Schnappauf, A. Ombrello, 2020, Journal of Allergy and Clinical Immunology.

Warts and DADA2: a Mere Coincidence?

A. Freeman, A. Agharahimi, I. Meyts, 2018, Journal of Clinical Immunology.

Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences

Hong Jiang, P. Grayson, J. Springer, 2018, Front. Immunol..

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

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

Perforin-deficient CAR T cells recapitulate late-onset inflammatory toxicities observed in patients.

N. Taylor, H. Young, T. Fry, 2020, The Journal of clinical investigation.

Treatment Strategies for Deficiency of Adenosine Deaminase 2.

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

Warts and DADA2: a Mere Coincidence?

Andrew J. Oler, C. Wouters, A. Freeman, 2018, Journal of Clinical Immunology.

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.

Immune Effector Cell associated Hemophagocytic Lymphohistiocytosis-like Syndrome (IEC-HS).

Matthew J. Frigault, D. Teachey, M. Perales, 2023, Transplantation and cellular therapy.

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

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

Consequences of hemophagocytic lymphohistiocytosis‐like cytokine release syndrome toxicities and concurrent bacteremia

Katherine E. Masih, V. Nussenblatt, H. Shalabi, 2021, Pediatric blood & cancer.

Characterization of HLH-Like Manifestations as a CRS Variant in Patients Receiving CD22 CAR T-Cells.

E. Ruppin, S. Steinberg, N. Taylor, 2021, Blood.

In silico validation of the Autoinflammatory Disease Damage Index

H. V. van Stel, S. Özen, E. Hachulla, 2018, Annals of the rheumatic diseases.

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 .

DADA2

A. Ombrello, 2020, Encyclopedia of Medical Immunology.

Deficiency of Adenosine Deaminase 2 (DADA2)

R. Segel, A. Ombrello, 2019, Textbook of Autoinflammation.

Clonal Hematopoiesis in Vexas Syndrome

D. Kastner, K. Calvo, T. Lasho, 2022, Blood.

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.

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

OP0090 CLASSIFICATION OF PATIENTS WITH RELAPSING POLYCHONDRITIS BASED ON SOMATIC MUTATIONS IN UBA1

D. Kastner, M. Gadina, P. Grayson, 2021 .

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

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

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

R. Ichord, T. Torgerson, D. Kastner, 2023, JAMA network open.

Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS

Hao Li, D. Kastner, Xingmin Feng, 2023, Cell reports. Medicine.

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.

Spectrum of clonal hematopoiesis in VEXAS syndrome.

D. Kastner, S. Kajigaya, R. Calado, 2023, Blood.

Development of the autoinflammatory disease damage index (ADDI)

S. Ozen, E. Hachulla, A. Martini, 2016, 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.