Results 221 to 230 of about 287,217 (298)

Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience. [PDF]

World J Pediatr
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL.   +8 more
europepmc   +1 more source

Ruxolitinib and vedolizumab salvage therapy in the setting of cytomegalovirus colitis for a patient with newly diagnosed very early onset inflammatory bowel disease

JPGN Reports, EarlyView.
Abstract Acute severe ulcerative colitis increases the risk for cytomegalovirus (CMV) infection, particularly with the use of immunocompromising medications. We report a case of a 4‐year‐old with newly diagnosed very early onset inflammatory bowel disease presenting with acute severe colitis refractory to both corticosteroids and infliximab, whose ...
Alison Laxer, Morris Edelman, Julie Gallagher, Benjamin Sahn   +3 more
wiley   +1 more source

Case report: A novel <i>JAK3</i> homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19. [PDF]

Front Immunol
Sbruzzi RC, Prado MJ, Fam B, Prolla HA, Hellwig A, Motta Rodrigues G, de-Paris F, Jobim M, Artigalás O, Seeleuthner Y, Casanova JL, Bustamante J, Vianna FSL.   +12 more
europepmc   +1 more source

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

Journal of Bone and Mineral Research, 2017
G. Pacheco-Cuellar, J. Gauthier, V. Désilets, C. Lachance, Marlène Lemire-Girard, F. Rypens, F. Le Deist, H. Decaluwe, M. Duval, D. Bouron‐Dal Soglio, V. Kokta, E. Haddad, Philippe M. Campeau   +12 more
semanticscholar   +1 more source

Bee products as alternatives in the treatment of viral infections

Journal of the Science of Food and Agriculture, EarlyView.
Abstract Medicines used in the treatment of viral infections usually reduce symptoms. There is a need to develop drugs that inhibit the viruses and do not merely relieve the symptoms. Natural bee products possess many pharmacological properties and are widely used in folk medicine. There are many studies on the antibacterial effects of bee products but
Michał Otręba, Łukasz Marek, Jerzy Stojko, Anna Rzepecka‐Stojko   +3 more
wiley   +1 more source

Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report. [PDF]

Cureus
Krasnanska G, Blandova G, Baldovic M, Andrejkova M, Konecny M.   +4 more
europepmc   +1 more source

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing

Scandinavian Journal of Immunology, 2017
B. Erman, I. Bilic, T. Hirschmugl, E. Salzer, H. Boztug, O. Sanal, D. Ayvaz, I. Tezcan, K. Boztug   +8 more
semanticscholar   +1 more source

Cutaneous Granulomas Associated With Rubella Replication in TAP Deficiency Syndrome: A Fatal Case Report Evolving Into Cutaneous Squamous Cell Carcinoma and EBV‐Associated Lymphoproliferative Syndrome

JEADV Clinical Practice, EarlyView.
ABSTRACT Transporter associated with antigen presentation (TAP) deficiency syndrome (TDS) is a rare primary immunodeficiency (PID) characterised by a broad spectrum of clinical manifestations, with noninfectious cutaneous granulomas (CG) being a common feature.
A. Fernández‐Galván, M. Aparicio, P. Muñoz, J. Fulgencio‐Barbarín, N. D. Zurita, D. Arroyo‐Sánchez, O. Cabrera‐Marante, L. M. Allende, M. Llamas‐Velasco   +8 more
wiley   +1 more source

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency. [PDF]

Front Immunol
Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD.   +7 more
europepmc   +1 more source

Never say never

Journal of Hospital Medicine, EarlyView.
Gurpreet Dhaliwal, Jagmeet Dhingra, Tom Fraser, Leal Herlitz, James Pile   +4 more
wiley   +1 more source