21 results on '"Mace, Emily"'
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2. PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
3. Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency
4. Human natural killer cells: Form, function, and development
5. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
6. Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function
7. NK cells in treated HIV-infected children display altered phenotype and function
8. Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment
9. Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
10. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
11. Insights into primary immune deficiency from quantitative microscopy
12. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency
13. Autoimmune regulator (AIRE) contributes to Dectin-1–induced TNF-α production and complexes with caspase recruitment domain–containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1
14. GATA2 deficiency underlying severe blastomycosis and fatal herpes simplex virus–associated hemophagocytic lymphohistiocytosis
15. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
16. Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency
17. Partial loss of function mutations in GINS4 lead to natural killer cell deficiency with neutropenia
18. A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism
19. Genetic and Mechanistic Diversity in Hemophagocytic Lymphohistiocytosis
20. Profiling natural killers in COVID-19
21. Whole Exome Sequencing Identifies Potential Defects in Multiple Immunodeficiency-Associated Genes in Individual Patients and Families with Primary Immunodeficiency Diseases
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