Genetics of monogenic autoinflammatory diseases: past successes, future challenges

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene

(2011) M. A. Pelagatti et al.   ARTHRITIS AND RHEUMATISM

Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice

(2011) Jae Jin Chae et al.   IMMUNITY

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

(2010) S. Borghini et al.   ARTHRITIS AND RHEUMATISM

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

(2010) Abhimanyu Garg et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci

(2010) Nobuhisa Mizuki et al.   NATURE GENETICS

Genome-wide association study identifies variants in the MHC class I, IL10 and IL23R-IL12RB2 regions associated with Behçet's disease

(2010) Elaine F Remmers et al.   NATURE GENETICS

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

(2010) A. Simon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

(2009) Seth L. Masters et al.   Annual Review of Immunology

Clinical disease among patients heterozygous for familial mediterranean fever

(2009) Dina Marek-Yagel et al.   ARTHRITIS AND RHEUMATISM

Familial mediterranean fever with a singleMEFVmutation: Where is the second hit?

(2009) Matthew G. Booty et al.   ARTHRITIS AND RHEUMATISM

Primed innate immunity leads to autoinflammatory disease in PSTPIP2-deficient cmo mice

(2009) V. Chitu et al.   BLOOD

Genetic Susceptibility Factors in a Cohort of 38 Patients with SAPHO Syndrome: A Study of PSTPIP2, NOD2, and LPIN2 Genes

(2009) M. HURTADO-NEDELEC et al.   JOURNAL OF RHEUMATOLOGY

Is E148Q a Benign Polymorphism or a Disease-causing Mutation?

(2009) D. MAREK-YAGEL et al.   JOURNAL OF RHEUMATOLOGY

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

(2009) Ivona Aksentijevich et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Autoinflammatory Disease Due to Homozygous Deletion of theIL1RNLocus

(2009) Sreelatha Reddy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

(2008) Jeroen C. H. van der Hilst et al.   MEDICINE

Hyper-IgD syndrome with novel mutation in a Japanese girl

(2008) Takuya Naruto et al.   Modern Rheumatology

Mutations in NALP12 cause hereditary periodic fever syndromes

(2008) I. Jeru et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA