Results 121 to 130 of about 8,524 (262)

Adult‐onset Coats disease: A systematic review and meta‐analysis of imaging biomarkers and targeted therapies

Acta Ophthalmologica, EarlyView.
Abstract Coats disease diagnosed in adulthood is a rare idiopathic retinal telangiectatic vasculopathy that may differ in phenotype from childhood‐diagnosed cases. This systematic review synthesizes current evidence to characterize its clinical spectrum, imaging features, treatment outcomes and underlying mechanisms, with a focus on immunovascular ...
Catarina Francisco, Nisa Silva, Camiel J. F. Boon   +2 more
wiley   +1 more source

Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia

Biomédica: revista del Instituto Nacional de Salud
Introduction. Inborn errors of immunity is a diverse group of rare diseases caused by over 400 genetic mutations affecting the immune system and increasing infection susceptibility, autoimmunity, and malignancy.
Diego Medina, Jhonier Orlando Castro, David Esteban Castro, Estefanía Beltrán, Eliana Manzi, Alexis Antonio Franco, Manuela Olaya   +6 more
doaj   +1 more source

Immune System Development—Pro Tips for Paediatricians

Acta Paediatrica, EarlyView.
ABSTRACT There are many misconceptions about the immune system in children, its impact on infectious disease susceptibility and its role in the rapidly increasing rates of immune mediated diseases in industrialized societies. In this mini review, I will discuss common believes and the data supporting or countering such believes, with a focus on ...
Petter Brodin
wiley   +1 more source

Clinical burden and healthcare resource use of congenital thrombotic thrombocytopenic purpura in England: A linked primary and secondary care data analysis

British Journal of Haematology, EarlyView.
Summary Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra rare haematological disorder. This study aimed to estimate the clinical burden, healthcare resource use (HCRU) and associated costs of cTTP in England using primary and secondary care data. A retrospective cohort study was undertaken using the Clinical Practice Research Datalink (
Erin Barker, Will Lester, Heather Riley, Monica Garrett, Amie Padhiar, Annie Berkley, Sudhakar Manne, Umesh Doobaree, Oliver Heard   +8 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Phenotype‐specific immune profiles and outcomes in childhood autoimmune neutropenia: A 20‐year cohort study

British Journal of Haematology, EarlyView.
Summary Childhood autoimmune neutropenia (AIN) encompasses heterogeneous entities; phenotype‐specific immunological profiles and their relationship to infection outcomes remain incompletely defined. To characterise clinical, immunological and long‐term outcomes across distinct phenotypes of childhood AIN.
Ioanna Saougou, Chrysoula Kosmeri, Nikolaos Chaliasos, Irene Mavroudi, Charalampos Pontikoglou, Alexandros Makis   +5 more
wiley   +1 more source

Inborn Errors of Immunity in Adults with Autoimmune Liver Diseases

The Turkish Journal of Gastroenterology
Background/Aims: Inborn errors of immunity (IEI) may associate with autoimmune diseases, including autoimmune liver diseases (AILD). However, both the IEI frequency and secondary effects of immunosuppressives are unknown in patients with AILD due to the ...
Şefika Nur Ayar, Elif Soyak Aytekin, Cem Şimşek, Osman Dağ, Deniz Çağdaş, Yasemin H. Balaban   +5 more
doaj   +1 more source

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, EarlyView.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

Clinical heterogeneity in families with multiple cases of inborn errors of immunity

Background Inborn errors of immunity (IEI) are a diverse range of genetic immune system illnesses affecting the innate and/or adaptive immune systems.
Sadeghi-Shabestari, M, Delavari, S, Shirmast, P, Barzamini, S, Ahanchian, H, Sharafian, S, Aleyasin, S, Chavoshzade, Z, Tarighatmonfared, F, Rasouli, SE, Fekrvand, S, Momen, T, Esmaeilzadeh, H, Mahdaviani, SA, Sherkat, R, et al.   +15 more
core   +1 more source