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Frontiers in Pediatrics|June 18, 2026
Genomic diagnosis and multisystem phenotyping in pediatric congenital analbuminemia: clinical, coagulation, and immune signaturesAsena Pinar Sefer, Melek Yorgun Altunbas, Baran Erman, et al.Journal of Clinical Immunology|August 24, 2021
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis GenesAndrea Guennoun, Salim Bougarn, Taushif Khan, et al.The Journal of Allergy and Clinical Immunology|September 18, 2025
Abatacept restores dysregulated transcriptomic and proteomic profile in disorders of CTLA-4 insufficiencyMehmet Cihangir Catak, Naz Surucu, Feyza Bayram Catak, et al.Science (New York, N.Y.)|July 25, 2015
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapyBernice Lo, Kejian Zhang, Wei Lu, et al.Nature Immunology|December 23, 2021
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory diseaseSatoshi Kubo, Jill M Fritz, Hayley M Raquer-McKay, et al.Allergy|July 21, 2021
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiencyBurcu Kolukisa, Dilek Baser, Bengu Akcam, et al.Allergy|May 1, 2022
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiencyMehmet C Catak, Bengu Akcam, Sevgi Bilgic Eltan, et al.Science (New York, N.Y.)|September 13, 2014
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, et al.The Journal of Allergy and Clinical Immunology. in Practice|June 26, 2019
Abatacept as a Long-Term Targeted Therapy for LRBA DeficiencyAyca Kiykim, Ismail Ogulur, Esra Dursun, et al.Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.Pageof 6