Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond

(2020) Erkan Demirkaya et al.   Journal of Clinical Medicine

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing

(2020) Laura Batlle-Masó et al.   European Journal of Medical Genetics

Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia

(2020) Janani Ramesh et al.   PLoS One

Toward a better understanding of type I interferonopathies: a brief summary, update and beyond

(2019) Zhong-Xun Yu et al.   World Journal of Pediatrics

Monogenic systemic lupus erythematosus: insights in pathophysiology

(2018) Ezgi Deniz Batu   RHEUMATOLOGY INTERNATIONAL

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Comparison of Disease Characteristics, Organ Damage, and Survival in Patients with Juvenile-onset and Adult-onset Systemic Lupus Erythematosus in a Combined Cohort from 2 Tertiary Centers in Turkey

(2017) Bahar Artim-Esen et al.   JOURNAL OF RHEUMATOLOGY

Juvenile systemic lupus erythematosus in Turkey: demographic, clinical and laboratory features with disease activity and outcome

(2017) S Sahin et al.   LUPUS

Shaping the spectrum — From autoinflammation to autoimmunity

(2016) Christian M. Hedrich   CLINICAL IMMUNOLOGY

Rare variants, autoimmune disease, and arthritis

(2016) Sharon A. Chung et al.   CURRENT OPINION IN RHEUMATOLOGY

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

(2016) Tracy A. Briggs et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature

(2016) Y Bilginer et al.   LUPUS

Genetically defined autoinflammatory diseases

(2016) AA de Jesus et al.   ORAL DISEASES

Type I interferonopathies in pediatric rheumatology

(2016) Stefano Volpi et al.   Pediatric Rheumatology

Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus Erythematosus

(2016) Jie An et al.   Arthritis & Rheumatology

Type I interferonopathies: Mendelian type I interferon up-regulation

(2015) Yanick J Crow   CURRENT OPINION IN IMMUNOLOGY

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene

(2015) Hermann Girschick et al.   Pediatric Rheumatology

The pathogenesis and diagnosis of systemic lupus erythematosus: still not resolved

(2014) Ole Petter Rekvig et al.   Seminars in Immunopathology

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

(2011) Ekkehart Lausch et al.   NATURE GENETICS

Writing a narrative biomedical review: considerations for authors, peer reviewers, and editors

(2011) Armen Yuri Gasparyan et al.   RHEUMATOLOGY INTERNATIONAL

Identification of urinary metabolites that distinguish membranous lupus nephritis from proliferative lupus nephritis and focal segmental glomerulosclerosis

(2011) Lindsey E Romick-Rosendale et al.   ARTHRITIS RESEARCH & THERAPY

Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation

(2008) V. Navarro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Difference in disease features between childhood-onset and adult-onset systemic lupus erythematosus

(2008) Hermine I. Brunner et al.   ARTHRITIS AND RHEUMATISM