IVAN CHINN to Immunologic Deficiency Syndromes
This is a "connection" page, showing publications IVAN CHINN has written about Immunologic Deficiency Syndromes.
Connection Strength
3.367
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Immunodeficiency Disorders. Pediatr Rev. 2019 May; 40(5):229-242.
Score: 0.564
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The role of genomic approaches in diagnosis and management of primary immunodeficiency. Curr Opin Pediatr. 2018 12; 30(6):791-797.
Score: 0.548
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Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 08; 142(2):605-617.e7.
Score: 0.515
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?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 Mar 15; 212(6):962-973.
Score: 0.198
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Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. J Allergy Clin Immunol. 2024 01; 153(1):216-229.
Score: 0.191
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 01 28; 137(4):493-499.
Score: 0.159
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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 07 10; 369(6500):202-207.
Score: 0.153
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CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 2019 10 31; 134(18):1510-1516.
Score: 0.146
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Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. J Allergy Clin Immunol Pract. 2020 03; 8(3):1103-1106.e3.
Score: 0.145
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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2019 06; 143(6):2296-2299.
Score: 0.139
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Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. J Allergy Clin Immunol. 2018 06; 141(6):2142-2155.e5.
Score: 0.127
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Update on the use of immunoglobulin in human disease: A?review of evidence. J Allergy Clin Immunol. 2017 Mar; 139(3S):S1-S46.
Score: 0.120
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.116
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Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. J Clin Immunol. 2016 05; 36(4):377-387.
Score: 0.114
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Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. J Allergy Clin Immunol. 2014 Apr; 133(4):1109-15.
Score: 0.098
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.033