Results 51 to 60 of about 172 (116)

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, Volume 56, Issue 9, Page 1488-1499, September 2026.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus

Frontiers in Genetics
Early-onset systemic lupus erythematosus presents with a more severe disease and is associated with a greater genetic burden, especially in patients from Black, Asian or Hispanic ancestries.
Nicholas Kim-Wah Yeo, Nicholas Kim-Wah Yeo, Che Kang Lim, Che Kang Lim, Katherine Nay Yaung, Katherine Nay Yaung, Nicholas Kim Huat Khoo, Thaschawee Arkachaisri, Thaschawee Arkachaisri, Thaschawee Arkachaisri, Salvatore Albani, Salvatore Albani, Salvatore Albani, Joo Guan Yeo, Joo Guan Yeo, Joo Guan Yeo   +15 more
doaj   +1 more source

Strategies for inducing diabetes in laboratory animals: Advances from chemical, surgical, immunologic, dietary, and genetic approaches

Animal Models and Experimental Medicine, Volume 9, Issue 8, Page 1548-1566, August 2026.
This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji, Maedeh Faraji, Nasrin Kazemipour   +2 more
wiley   +1 more source

Systemic lupus erythematosus with juvenile onset: current status of the problem (literature review)

Современная ревматология
Patients with juvenile-onset systemic lupus erythematosus (jSLE) account for up to 25% of all SLE patients. The main difference between jSLE and SLE in adults is the greater role of genetic factors in the pathogenesis, higher activity, earlier ...
M. I. Kaleda, I.  P. Nikishina
doaj   +1 more source

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Frontiers in Pediatrics
Systemic autoinflammatory diseases (SAIDs) are disorders of innate immunity, which are characterized by unprovoked recurrent flares of systemic inflammation often characterized by fever associated with clinical manifestations mainly involving the ...
Silvia Federici, Bianca Laura Cinicola, Bianca Laura Cinicola, Francesco La Torre, Riccardo Castagnoli, Riccardo Castagnoli, Vassilios Lougaris, Giuliana Giardino, Stefano Volpi, Roberta Caorsi, Lucia Leonardi, Stefania Corrente, Annarosa Soresina, Caterina Cancrini, Caterina Cancrini, Antonella Insalaco, Marco Gattorno, Fabrizio De Benedetti, Gian Luigi Marseglia, Gian Luigi Marseglia, Michele Miraglia Del Giudice, Fabio Cardinale   +21 more
doaj   +1 more source

Persistent Haematuria Is Associated With Reduced Kidney Survival in Primary Podocytopathies

Nephrology, Volume 31, Issue 8, August 2026.
ABSTRACT Aim Haematuria is frequently present in podocytopathies, but its significance and prognostic value are not well described. This study aimed to determine the prevalence and association between persistent haematuria and kidney survival in patients with membranous nephropathy (MN), minimal change disease (MCD) and focal segmental ...
Gabriel Ștefan, Nicoleta Petre, Adrian Zugravu, Simona Stancu   +3 more
wiley   +1 more source

Case Report: Novel UNC93B1 variant causes rheumatoid arthritis and interstitial pneumonia

Frontiers in Immunology
BackgroundUNC93B1 is a transmembrane protein essential for regulating toll-like receptors (TLRs). Pathogenic variants in human UNC93B1 have recently been described in a limited number of patients with childhood systemic lupus erythematosus and chilblain ...
Tingyan He, Junbin Ou, Lijuan Huang, Xinyi Zhou, Linlin Wang, Xiaolin Li, Jun Yang   +6 more
doaj   +1 more source

Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ

Pediatric Rheumatology Online Journal, 2018
Background We previously described an endogamous Pakistani kindred in whom we identified a novel homozygous missense mutation in the PRKCD gene encoding for protein kinase C δ (PKCδ) as a cause of monogenic systemic lupus erythematosus (SLE).
Linda Lei, Sabina Muhammad, Muthana Al-Obaidi, Neil Sebire, Iek Leng Cheng, Despina Eleftheriou, Paul Brogan   +6 more
doaj   +1 more source

Interferon-targeted therapy with anifrolumab in monogenic pediatric systemic lupus erythematosus due to C1q deficiency: a case report

Frontiers in Pediatrics
Monogenic Pediatric systemic lupus erythematosus (SLE) secondary to complement deficiencies, including C1Q deficiency caused by C1QA mutations, is a rare and severe type of SLE that can be characterized by early onset and refractory disease.
Seham M. Alqahtani, Seham M. Alqahtani, Seham M. Alqahtani, Abdalrahman Mohammed Asiri, Mohammed A. Aljuaid   +4 more
doaj   +1 more source

DNA Damage and Deficiencies in the Mechanisms of Its Repair: Implications in the Pathogenesis of Systemic Lupus Erythematosus

Journal of Immunology Research, 2018
Systemic lupus erythematosus (SLE) is a perplexing and potentially severe disease, the pathogenesis of which is yet to be understood. SLE is considered to be a multifactorial disease, in which genetic factors, immune dysregulation, and environmental ...
Martha Paola Mireles-Canales, Susana Aideé González-Chávez, Celia Maria Quiñonez-Flores, Ever Adán León-López, César Pacheco-Tena   +4 more
doaj   +1 more source