Results 21 to 30 of about 172 (116)

Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review

Pediatric Rheumatology Online Journal
Background Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants ...
Patricia Morán-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti, Claudia Bracaglia   +5 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

A Pilot Randomized Study of NAT2 and YEATS4 Pharmacogenetic Return of Results in Adults with Hypertension and African Ancestry: The GUARDD‐US PGx Study

Clinical Pharmacology &Therapeutics, EarlyView.
Almost half of individuals with hypertension fail to achieve recommended blood pressure (BP) goals. Pharmacogenetic gene‐drug interactions may alter the efficacy of antihypertensive agents. We conducted a multicenter randomized controlled sub‐study of participants (N = 1874) with hypertension and self‐reported African ancestry to determine whether ...
Philip E. Empey, Nita A. Limdi, Dinushika Mohottige, Kady‐Ann Steen‐Burrell, Hrishikesh Chakraborty, Khoa A. Nguyen, Alexander S. Parker, Emily J. Cicali, Girish N. Nadkarni, Michelle A. Ramos, Sabrina Clermont, Erica N. Elwood, Mimsie Robinson, Nandini Shroff, Marc B. Rosenman, Ronald Huang, Larisa H. Cavallari, Julie A. Johnson, Paul R. Dexter, Todd C. Skaar, Kerri L. Cavanaugh, Christina M. Wyatt, Carol R. Horowitz, Rhonda M. Cooper‐DeHoff, Michael T. Eadon, on behalf of the IGNITE Pragmatic Trials Network   +25 more
wiley   +1 more source

Adult-onset STING-associated vasculopathyAdult-onset STING-associated vasculopathy [PDF]

Journal of Human Immunity
Riley, Kotzin et al. screened 43,731 adult exomes and identified six individuals with STING gain-of-function mutations that cause pediatric SAVI. These adults presented with phenotypes ranging from lupus and polychondritis to clinical non-penetrance ...
Thomas R. Riley, IV, Jonathan J. Kotzin, Debby J. Park, Shubhasree Banerjee, Asako Takanohashi, Adeline Vanderver, Penn Medicine Biobank, Joshua F. Baker, Amanda V. Finck, Jonathan J. Miner   +9 more
doaj   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

The Essential Role of Genetic Evaluation in Prepubertal Systemic Lupus Erythematosus

Journal of Human Immunity
IntroductionSystemic lupus erythematosus (SLE) in prepubertal children is rare and can indicate a monogenic cause. Although outcomes are variable, monogenic lupus is often difficult to treat with long-term complications related to the disease and ...
Hilary Kleppel, Rebecca Hetrick, Susan Ballinger, Lindsey Kirkpatrick, Kathleen Overholt, Nurcicek Padem   +5 more
doaj   +1 more source

Autoantibody repertoire characterization provides insight into the pathogenesis of monogenic and polygenic autoimmune diseases

Frontiers in Immunology, 2023
Autoimmune diseases vary in the magnitude and diversity of autoantibody profiles, and these differences may be a consequence of different types of breaks in tolerance.
Thomas Clarke, Pan Du, Satyendra Kumar, Shinji L. Okitsu, Mark Schuette, Qi An, Jinyang Zhang, Evgeni Tzvetkov, Mark A. Jensen, Timothy B. Niewold, Elise M. N. Ferre, Julie Nardone, Michail S. Lionakis, Jaromir Vlach, Julie DeMartino, Andrew T. Bender   +15 more
doaj   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

C1q monogenic lupus: a case series and review

Rheumatology Advances in Practice
Abstract Objectives Monogenic systemic lupus erythematosus (SLE) is caused by a single gene mutation. C1q deficiency is a rare but well-documented form of monogenic SLE, characterized by unique clinical and laboratory indicators that guide diagnosis and treatment.
Israrul Haque, Kaustav Mitra, Geetabali Sircar, Parasar Ghosh, Sumantro Mondol, Subhankar Haldar, DipendraNath Ghosh, Rashmi Roongta   +7 more
openaire   +2 more sources

Hemophagocytic Lymphohistiocytosis in a Patient With Alcohol‐Associated Liver Disease: A Case Report Highlighting Diagnostic Challenges

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening hyperinflammatory syndrome with nonspecific clinical manifestations that can mimic common conditions in patients with alcohol dependence. Early clinical suspicion and rapid initiation of treatment are essential to prevent fatal outcomes.
Adalis Rivera, Hakan R. Toka, Yasser Samra, Aleena Khan, Kathryn Bower   +4 more
wiley   +1 more source