Results 41 to 50 of about 4,530 (166)

B Cell Responses to CpG Correlate with CXCL16 Expression Levels in Common Variable Immunodeficiency

The Scientific World Journal, 2012
Broad Toll-like receptor 9 (TLR9) signalling defects after CpG in vitro stimulation have been described in common variable immunodeficiency (CVID). CXCL16, a surface receptor, was recently shown to influence cell responses to CpG.
Vassilios Lougaris, Manuela Baronio, Massimiliano Vitali, Giacomo Tampella, Annarosa Soresina, Raffaele Badolato, Alessandro Plebani   +6 more
doaj   +1 more source

Common variable immune deficiency with mutated TNFSRF13B gene presenting with autoimmune hematologic manifestations

Pediatric Hematology Oncology Journal, 2016
Patients with common variable immunodeficiency (CVID) develop autoimmune hematologic manifestations. We report a 14-year-old boy with Evans syndrome, who presented at the age of 11.5 years with autoimmune hemolysis and was successfully managed with ...
Elpis Mantadakis, Evangelia Farmaki, Anna Taparkou, Athanassios Chatzimichael, Matthaios Speletas   +4 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

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

Internal Medicine Journal, EarlyView.
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

Common Variable Immunodeficiency (CVID) and Inclusion Body Myositis (IBM)

Immunobiology, 2000
A case of a 38-year old man with a common variable immunodeficiency syndrome (CVID) is demonstrated who suffered at the same time from a histologically proven inclusion body myositis (IBM). The myositis did not resolve after institution of regular intravenous IgG infusions. This case demonstrates a very long lasting benign course of IBM. The occurrence
A, Gause, D C, Inderrieden, R, Laas, A C, Arlt, W L, Gross   +4 more
openaire   +2 more sources

The 2025 ATS/ERS update of the international multidisciplinary classification of the interstitial pneumonias: implications for the pathologist

Histopathology, Volume 89, Issue 3, Page 403-425, September 2026.
This review highlights changes relevant to pathologists in the updated multidisciplinary classification of interstitial pneumonias. Changes include expansion beyond idiopathic disease, subclassification as interstitial (fibrotic vs non‐fibrotic) and alveolar filling disorders, expansion to include additional patterns (e.g.
Andrew G Nicholson, Wendy A. Cooper, Aurelie Fabre, William Travis, Lida P. Hariri, Ayodeji Adegunsoye, Sara Piciucchi, Christopher J Ryerson   +7 more
wiley   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Good Syndrome Presenting With Pulmonary Abnormalities Four Years After Thymectomy

Respirology Case Reports, Volume 14, Issue 7, July 2026.
Good syndrome may become clinically apparent several years after thymectomy and can present with pulmonary abnormalities. In this case, ground‐glass opacities and BAL lymphocytosis suggested possible inflammatory features, although infection could not be excluded.
Tomohide Hanawa, Tomohiro Akaba, Yuka Kaizu, Miki Kubo, Ayaka Fukuda, Mayu Fujii, Mamiko Muramatsu, Etsuko Tagaya   +7 more
wiley   +1 more source

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

Frontiers in Immunology, 2023
We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH).
S. Ricci, S. Ricci, S. Abu-Rumeileh, N. Campagna, F. Barbati, S. Stagi, S. Stagi, C. Canessa, C. Canessa, L. Lodi, L. Lodi, B. Palterer, L. Maggi, A. Matucci, A. Vultaggio, A. Vultaggio, F. Annunziato, F. Annunziato, C. Azzari, C. Azzari   +19 more
doaj   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, Volume 78, Issue 6, Page 1231-1244, June 2026.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source