Last Updated: 09/26/2026
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Found 16 publications
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Journal: eLife
Published: August 27, 2025
Isolated Psychiatric Symptoms in Children With Anti-N-Methyl-d Aspartate Receptor Encephalitis.
Journal: Pediatric neurology
Published: February 29, 2024
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Journal: Brain : a journal of neurology
Published: November 06, 2023
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Journal: The Journal of experimental medicine
Published: November 02, 2023
MRI Features and Their Association With Outcomes in Children With Anti-NMDA Receptor Encephalitis.
Journal: Neurology(R) neuroimmunology & neuroinflammation
Published: January 18, 2023
Enterovirus D68-Associated Acute Respiratory Illness ─ New Vaccine Surveillance Network, United States, July-November 2018-2020.
Journal: MMWR. Morbidity and mortality weekly report
Published: November 24, 2021
Seventeen-Year-Old Female With History of Depression Presented With Mania and Enuresis.
Journal: Pediatrics
Published: October 07, 2021
Acute flaccid myelitis: cause, diagnosis, and management.
Journal: Lancet (London, England)
Published: April 23, 2020
Last Updated: 09/26/2026