Aicardi-Goutières Syndrome and Systemic Lupus Erythematosus (SLE) in a 12-Year-Old Boy With SAMHD1 Mutations

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

(2010) Russell C. Dale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

(2010) Jane C. Ravenscroft et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reconciling Neuroimaging and Clinical Findings in Aicardi-Goutières Syndrome: An Autoimmune-Mediated Encephalopathy: Fig 1.

(2010) G. Ramantani et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Nucleic acid metabolism and systemic autoimmunity revisited

(2010) Min Ae Lee-Kirsch   ARTHRITIS AND RHEUMATISM

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS