Results 101 to 110 of about 7,049 (225)

Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort

Frontiers in Immunology
Inborn errors of immunity are a heterogeneous group of rare genetic disorders associated with susceptibility to infections, autoimmunity, allergy, and malignancy. Owing to marked clinical variability, phenotypic overlap, and limited access to specialized
Luiza de Mattos, Luiza de Mattos, Mayara Mayer Alves, Mayara Mayer Alves, Nickolas Piller Wegbecher, Nickolas Piller Wegbecher, Ana Paula Diniz Iwamura, Ana Paula Diniz Iwamura, Ana Paula Diniz Iwamura, Irma Cecilia Douglas Paes Barreto, Marina Hideko Kinoshita Assahide, Flavia A. T. M. Guimarães, Patricia Faddul, Gisele Kuntze, Herberto Jose Chong-Neto, Rafaela Wagner, Victor Horacio de Souza Costa Júnior, Saloe Bispo, Laire Schidlowski, Laire Schidlowski, Carolina Prando, Carolina Prando, Carolina Prando   +22 more
doaj   +1 more source

Modeling Hereditary Angioedema With Personalized EPSC‐Derived Hepatocytes: A CRISPR‐Validated Platform for Mutation‐Specific Mechanisms and Therapeutic Innovation

Allergy, EarlyView.
Patient‐derived expanded potential stem cell (EPSC) hepatocytes reveal that pathogenic SERPING1 variants cause distinct cellular defects in hereditary angioedema. While most mutations reduce SERPING1 transcription and C1‐INH secretion, a large deletion induces intracellular C1‐INH retention.
Xueyan Liu, Yuxin Wang, Jane C. Y. Wong, Xiang Zhang, Cuixi Wu, Pengyu Chen, Yunzhi Yang, Pentao Liu, Chak Sing Lau, Matthew Cook, Philip Hei Li   +10 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

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, EarlyView.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

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

Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research

Frontiers in Immunology
BackgroundInborn errors of immunity are rare, genetically heterogeneous disorders requiring coordinated clinical, laboratory, and genetic evaluation over time.
Maram Ahmed, Ahmed Aziz Bousfiha, Ahmed Aziz Bousfiha, Farida Almarzooqi, Farida Almarzooqi   +4 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

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

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +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