IVAN CHINN to Humans
This is a "connection" page, showing publications IVAN CHINN has written about Humans.
Connection Strength
0.302
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Short stature and combined immunodeficiency associated with mutations in RGS10. Sci Signal. 2021 07 27; 14(693).
Score: 0.015
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A 2020 update on the use of genetic testing for patients with primary immunodeficiency. Expert Rev Clin Immunol. 2020 09; 16(9):897-909.
Score: 0.014
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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A?working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol. 2020 01; 145(1):46-69.
Score: 0.013
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Immunodeficiency Disorders. Pediatr Rev. 2019 May; 40(5):229-242.
Score: 0.013
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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: 0.013
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Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100.
Score: 0.012
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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: 0.012
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Severe Combined Immunodeficiency Disorders. Immunol Allergy Clin North Am. 2015 Nov; 35(4):671-94.
Score: 0.010
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Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3- T cells in complete DiGeorge anomaly. Clin Exp Immunol. 2013 Jul; 173(1):140-9.
Score: 0.009
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Changes in primary lymphoid organs with aging. Semin Immunol. 2012 Oct; 24(5):309-20.
Score: 0.008
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Induction of tolerance to parental parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly. J Allergy Clin Immunol. 2011 Jun; 127(6):1351-5.
Score: 0.007
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Mechanisms of tolerance to parental parathyroid tissue when combined with human allogeneic thymus transplantation. J Allergy Clin Immunol. 2010 Oct; 126(4):814-820.e8.
Score: 0.007
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Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly. Clin Immunol. 2008 Mar; 126(3):277-81.
Score: 0.006
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6).
Score: 0.005
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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: 0.005
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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: 0.004
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Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival. Blood Adv. 2023 05 09; 7(9):1823-1830.
Score: 0.004
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Phenotypic Variability of SOCS1 Haploinsufficiency. J Clin Immunol. 2023 07; 43(5):902-906.
Score: 0.004
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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 02; 43(2):247-270.
Score: 0.004
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An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 12 08; 7(23).
Score: 0.004
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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 11 08; 7(21).
Score: 0.004
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FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia. J Allergy Clin Immunol. 2022 12; 150(6):1556-1562.
Score: 0.004
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IFN-? signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS. Blood Adv. 2021 09 14; 5(17):3457-3467.
Score: 0.004
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137.
Score: 0.004
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Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766.
Score: 0.004
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A novel case discussion of pediatric lipid transfer protein syndrome. J Allergy Clin Immunol Pract. 2021 10; 9(10):3836-3837.
Score: 0.004
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Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 08; 41(6):1420-1423.
Score: 0.004
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7).
Score: 0.004
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PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections. PLoS One. 2021; 16(2):e0237285.
Score: 0.004
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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: 0.004
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Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality. Front Immunol. 2020; 11:581475.
Score: 0.004
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Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 10 01; 130(10):5272-5286.
Score: 0.004
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Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI). J Clin Immunol. 2021 01; 41(1):209-211.
Score: 0.004
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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422.
Score: 0.004
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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: 0.004
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Intralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2020 09; 8(8):2769-2770.
Score: 0.004
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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Invest. 2020 01 02; 130(1):507-522.
Score: 0.003
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CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 2019 10 31; 134(18):1510-1516.
Score: 0.003
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799.
Score: 0.003
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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: 0.003
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.003
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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: 0.003
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Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol. 2018 10; 38(7):753-756.
Score: 0.003
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Hepatobiliary Dysfunction and Disseminated Intravascular Coagulation Increase Risk of Mortality in Pediatric Hemophagocytic Lymphohistiocytosis. Pediatr Crit Care Med. 2018 10; 19(10):e522-e530.
Score: 0.003
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immunol. 2019 04; 143(4):1482-1495.
Score: 0.003
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Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187.
Score: 0.003
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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: 0.003
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Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep. 2018 04 24; 23(4):1112-1123.
Score: 0.003
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High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease. Biol Blood Marrow Transplant. 2018 08; 24(8):1643-1650.
Score: 0.003
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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: 0.003
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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: 0.003
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Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320.
Score: 0.003
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92.
Score: 0.003
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.003
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Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2.
Score: 0.003
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Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. J Clin Immunol. 2016 05; 36(4):377-387.
Score: 0.003
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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol. 2016 08; 138(2):544-550.e4.
Score: 0.003
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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: 0.002
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First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. Blood. 2011 Jan 13; 117(2):688-96.
Score: 0.002
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Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. Eur J Med Genet. 2011 Jan-Feb; 54(1):63-6.
Score: 0.002
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Thymus transplantation in complete DiGeorge anomaly. Immunol Res. 2009; 44(1-3):61-70.
Score: 0.002
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Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant. 2008 Aug; 8(8):1729-36.
Score: 0.002
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Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 May 15; 109(10):4539-47.
Score: 0.001
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The effects of viral infections on renal transplants and their recipients. Q J Med. 1980; 49(194):219-31.
Score: 0.000