Results 51 to 60 of about 8,652 (161)

X-linked agammaglobulinemia and isolated growth hormone deficiency

The Turkish Journal of Pediatrics, 1998
X-linked agammaglobulinemia and isolated growth hormone deficiency was first described in 1980 and then classified as a different primary immune deficiency.
D Arslan, T Patiroğlu, M Kendirci, S Kurtoğlu   +3 more
doaj  

A Review of Primary Immune Deficiency Disorders

European Medical Journal Allergy & Immunology, 2020
This scenario-based review of primary immunodeficiency diseases (PIDD) discusses the differential diagnosis, usual presentations, work-up, and treatment of children with the most commonly encountered immune disorders.
Talin Darian, Joudeh B. Freij, Divya Seth, Pavadee Poowuttikul, Elizabeth Secord   +4 more
doaj  

Oral management of a patient with down syndrome and agammaglobulinemia: a case report

BMC Oral Health, 2020
Background Down syndrome is characterized by a variety of dysmorphic features and congenital malformations, such as congenital heart disease, gastrointestinal disease, and other conditions like leukemia and autoimmune disorders.
Yasuka Kusumoto, Kohsuke Imai, Yoshio Ohyama, Haruhisa Fukayama, Osamu Shinozuka   +4 more
doaj   +1 more source

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
ABSTRACT Background Inborn errors of immunity (IEI), previously referred to as primary immunodeficiencies, are a heterogeneous group of genetic disorders affecting immune development and function. While once considered rare, IEIs are increasingly recognized, particularly in regions with high consanguinity rates.
Burcu Cil Yılmaz, Sibel Kaplan Sarikavak, Sezin Naiboglu, Gulsah Kalay, Erkan Cakmak, Ozge Turkyilmaz Ucar, Selami Ulas, Nermin Kapci, Pinar Gokmirza, Cigdem Aydogmus   +9 more
wiley   +1 more source

Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome

Frontiers in Immunology, 2017
Immunodeficiency, centromeric instability, and facial anomaly (ICF) syndrome is a rare autosomal recessive genetic condition with severe immunodeficiency, which leads to lethal infections if not recognized and treated in early childhood.
Katharina L. Gössling, Cyrill Schipp, Ute Fischer, Florian Babor, Gerhard Koch, Friedhelm R. Schuster, Jutta Dietzel-Dahmen, Dagmar Wieczorek, Arndt Borkhardt, Roland Meisel, Michaela Kuhlen   +10 more
doaj   +1 more source

Six‐Year Trends in Real‐World Data Use for Post‐Marketing Surveillance of New Medical Products in Japan

Clinical and Translational Science, Volume 19, Issue 2, February 2026.
ABSTRACT The Ministerial Ordinance on Good Post‐Marketing Study Practice for Drugs was amended by the Ministry of Health, Labour and Welfare (MHLW) in 2018 to clearly define post‐marketing database studies (DBS) as a measure of pharmacovigilance activities for approved medical products in Japan.
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, Volume 66, Issue S2, Page 121-143, December 2025.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Durability of Response to B‐Cell Maturation Antigen‐Directed mRNA Cell Therapy in Myasthenia Gravis

Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2358-2366, November 2025.
ABSTRACT Objective We report the 12‐month follow‐up outcomes from a Phase 2 clinical trial (NCT04146051) evaluating Descartes‐08, a BCMA‐directed RNA chimeric antigen receptor T‐cell (rCAR‐T) therapy for refractory generalized myasthenia gravis (MG).
Nizar Chahin, Gregory Sahagian, Marc H. Feinberg, C. Andrew Stewart, Christopher M. Jewell, Metin Kurtoglu, Miloš D. Miljković, Tuan Vu, Tahseen Mozaffar, James F. Howard Jr, the MG‐001 Study Group   +10 more
wiley   +1 more source

Good's Syndrome Presenting With Weaning Failure From Ventilation and Myasthenia Gravis in a Post‐Thymectomy Patient

Respirology Case Reports, Volume 13, Issue 11, November 2025.
This case highlights the importance of long‐term vigilance in patients with thymoma, even after apparently successful resection, as Good's syndrome may manifest years later. Clinicians should maintain a high index of suspicion for Good's syndrome in any thymectomized patient presenting with unexplained infections, diarrhoea, or autoimmune complications,
Asmita Anilkumar Mehta, Aditya Ashok, Lakshmi Priya Valathara Pradeep, Suchitra Sivadas, George Justin Mothi   +4 more
wiley   +1 more source

FNIP1 Deficiency: Pathophysiology and Clinical Manifestations of a Rare Syndromic Primary Immunodeficiency

Current Issues in Molecular Biology
Folliculin-interacting protein 1 (FNIP1) is a key regulator of cellular metabolism and immune homeostasis, integrating nutrient signaling with proteostasis.
Samuele Roncareggi, Brian M. Iritani, Francesco Saettini   +2 more
doaj   +1 more source