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Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
J Clin Immunol
August 2024
Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, INSERM UMR1163, Paris, France.
Article Synopsis
- Hereditary C1q deficiency (C1QDef) is a rare genetic disorder that disrupts the complement system and can cause symptoms similar to systemic lupus erythematosus (SLE).
- A study of 12 genetically confirmed C1QDef patients showed elevated expression of interferon-stimulated genes and high levels of interferon alpha in their blood and cerebrospinal fluid, indicating significant immune dysfunction.
- Treatment with Janus-kinase inhibitors had mixed results, with one patient improving while others continued to struggle with their condition, highlighting the complexity of managing C1QDef.
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
J Rheumatol
December 2024
F. Haslak, MD, S. Sahin, MD, B. Hotaman, MD, N.M. Cebi, MD, M. Yildiz, MD, A. Adrovic, MD, A. Gunalp, MD, E. Kilic Konte, MD, E. Aslan, MD, U. Gul, MD, N. Akay, MD, K. Barut, MD, O. Kasapcopur, MD, Istanbul University-Cerrahpasa Cerrahpasa Medical School, Department of Pediatric Rheumatology;
Article Synopsis
- - The study focused on understanding clinical features, treatments, and outcomes of children with type I interferonopathy, aiming to identify long-term morbidity or mortality predictors.
- - Out of 40 patients, most were diagnosed with Aicardi-Goutières syndrome and exhibited significant central nervous system involvement, with a notable percentage experiencing permanent morbidity or death during follow-up.
- - The presence of intracranial calcification on MRI was identified as a key predictor of poor outcomes, highlighting important insights into this rare condition.
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Am J Med Genet A
April 2024
Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Aicardi-Goutières syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR, IFIH1, LSM11, and RNU7-1. Diagnosis is established by clinical findings (encephalopathy and acquired microcephaly, intellectual and physical impairments, dystonia, hepatosplenomegaly, sterile pyrexia, and/or chilblains), characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes), or the identification of pathogenic/likely pathogenic variants in the known genes.
View Article and Find Full Text PDFTargetoid-like lesions and chilblain-like erythema manifested on hands and feet: A case of Rowell syndrome from China.
Immun Inflamm Dis
August 2023
Department of Dermatology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Background: Rowell syndrome (RS) is an uncommon condition characterized by erythema multiforme (EM)-like lesions and lupus erythematosus. It is more common in females, and EM may be the first manifestation of the disease with positive autoantibodies, such as antinuclear antibody (ANA), SSA, SSB and rheumatoid factor. The pathogenesis of RS is unknown and is likely caused by drug induction, ultraviolet exposure and infection.
View Article and Find Full Text PDFChilblain-Like Lesions (CLL) Coinciding With the SARS-CoV-2 Pandemic in Children: A Systematic Review.
J Cutan Med Surg
June 2023
Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.
Chilblain-like lesions (CLL) coinciding with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection have been described in the literature. Available reviews of the literature suggest that CLL are associated with younger age, an equal sex ratio, negative testing for SARS-CoV-2, and mild to no extracutaneous manifestations (ECM) associated with COVID-19 infection. This systematic review aims to provide a summary of reports of CLL associated with the early SARS-CoV-2 pandemic in children to clarify the prevalence, clinical characteristics, and resolution outcomes of these skin findings.
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