Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy

Molecular basis of hereditary C1q deficiency—revisited: identification of several novel disease-causing mutations

(2011) L Schejbel et al.   GENES AND IMMUNITY

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

(2011) M. du Moulin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome

(2010) Simon T. Holden et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

(2010) VENKATESWARAN RAMESH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Impact of C1q deficiency on the severity and outcome of childhood systemic lupus erythematosus

(2010) Sulaiman M. AL-MAYOUF et al.   International Journal of Rheumatic Diseases

C1q inhibits immune complex-induced interferon-α production in plasmacytoid dendritic cells: A novel link between C1q deficiency and systemic lupus erythematosus pathogenesis

(2009) Christian Lood et al.   ARTHRITIS AND RHEUMATISM

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

(2009) Y. J. Crow et al.   HUMAN MOLECULAR GENETICS