Results 91 to 100 of about 18,379 (288)

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

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

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

Mutations in topoisomerase IIβ result in a B cell immunodeficiency. [PDF]

, 2019
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in ...
Austin, Caroline A, Booshehri, Laela M, Broderick, Lori, Brydges, Susannah D, Cowell, Ian G, Croker, Ben A, Frazer, Kelly A, Gebauer, Corinna, Guaderrama, Marisela, Hakonarson, Hakon, Harr, Margaret, Hoffman, Hal M, Hügle, Boris, Kucharova, Karolina, Li, Dong, McGeough, Matthew D, Patel, Niraj C, Putnam, Christopher D, Wang, Jian, Xu, Xun, Yost, Shawn, Zackai, Elaine, Zhang, Jianguo   +22 more
core  

Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS) [PDF]

, 2018
Immunoglobulin G (IgG) replacement therapy is a standard treatment for patients with primary immunodeficiency diseases (PIDs). Hizentra®, a 20% human subcutaneous IgG (SCIG), is approved for biweekly administration for PIDs.
Azzari, Chiara, Boggia, Giorgio Maria, Gallo, Vera, Graziani, Simona, Martire, Baldassarre, Matucci, Andrea, Moschese, Viviana, Palladino, Valentina, Pecoraro, Antonio, Pignata, Claudio, Ricci, Silvia, Spadaro, Giuseppe, Trizzino, Antonino, Vultaggio, Alessandra   +13 more
core   +2 more sources

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

Bruton's Agammaglobulinemia and COVID-19

Cureus, 2020
During the SARS-CoV-2 global pandemic, many patients who have co-morbid conditions are considered high risk for morbidity and mortality; however, those who are immunodeficient are at higher risk of becoming seriously ill. In this article, we present a 26-
Justin G Hovey, D. Tolbert, Druhan Howell   +2 more
semanticscholar   +1 more source

Subcutaneous Immunoglobulin-G Replacement Therapy with Preparations Currently Available in the United States for Intravenous or Intramuscular Use: Reasons and Regimens [PDF]

, 2005
For patients who require replacement therapy for primary immunodeficiency, subcutaneous infusions of immunoglobulin G (IgG) may be preferable to intravenous infusions for several reasons.
Akhilesh Chouksey, Kimberly Duff, Nancy Wasserbauer, Melvin Berger   +3 more
core   +2 more sources