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Paper Details

Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
14
2022
AA amyloidosis, B, B-mediated autoinflammatory disease, IL-1, NF-, NF-?, Patients, ROSAH, ROSAH syndrome, STAT1, T237M, Thr237Met, Tyr254Cys, anhidrosis, anti-IL-6, autoinflammatory disease, deforming arthritis, enamel defects, headache, headaches, interferon gene, intraocular inflammation, mice, mutated ALPK1 constructs, optic nerve oedema, p, patients, premature basal ganglia/brainstem mineralisation, primary samples, retinal dystrophy, splenomegaly, systemic inflammation, tocilizumab, visual deficits
Author NameAffiliation
Christina Torres KozyckiNational Human Genome Research Institute
Christina Torres KozyckiNational Institute of Allergy and Infectious Diseases
Shilpa KodatiNational Eye Institute
Wanxia Li TsaiNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Ariane SoldatosNational Institute of Neurological Disorders and Stroke
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases
Theo HellerNational Institute of Diabetes and Digestive and Kidney Diseases
Edward W CowenNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Edward W CowenNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Camilo Toro
Camilo ToroNational Human Genome Research Institute
Debra A Long PrielFrederick National Laboratory for Cancer Research
Michele NehrebeckyNational Human Genome Research Institute
Hatice Nida SenNational Eye Institute
Douglas B KuhnsFrederick National Laboratory for Cancer Research
Massimo GadinaNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Massimo GadinaNational Institute of Arthritis and Musculoskeletal and Skin Diseases
Brian P BrooksNational Eye Institute
Lucia Sobrin
Daniel L KastnerNational Human Genome Research Institute
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