Showing 1 - 11 results of 11 for search 'Ivan K Chinn', query time: 0.04s Refine Results
  1. 1
    T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

    T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication by Xavier Rios, Ivan K. Chinn, Jordan S. Orange, Celine I. Hanson, Nicholas L. Rider

    Published 2017-07-01
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  2. 2
    Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency

    Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency by Robert Tillman, R. Paul Guillerman, Timothy Trojan, Manuel Silva-Carmona, Manuel Silva-Carmona, Ivan K. Chinn

    Published 2019-03-01
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  3. 3
    Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING

    Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING by Hiroyasu Konno, Ivan K. Chinn, Diana Hong, Jordan S. Orange, James R. Lupski, Alejandra Mendoza, Luis A. Pedroza, Glen N. Barber

    Published 2018-04-01
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  4. 4
    Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

    Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168 by Ivan K. Chinn, Ivan K. Chinn, Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Harjit Dadi, Chaim M. Roifman, Chaim M. Roifman, Troy Quigg, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Jordan S. Orange, Jordan S. Orange, I. Celine Hanson, I. Celine Hanson

    Published 2017-05-01
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  5. 5
    PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.

    PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections. by Nicholas L Rider, Gina Cahill, Tina Motazedi, Lei Wei, Ashok Kurian, Lenora M Noroski, Filiz O Seeborg, Ivan K Chinn, Kirk Roberts

    Published 2021-01-01
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  6. 6
    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

    Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature by Josefina Longeri Contreras, Mabel A. Ladino, Katherine Aránguiz, Gonzalo P. Mendez, Zeynep Coban-Akdemir, Zeynep Coban-Akdemir, Bo Yuan, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, Lindsay C. Burrage, James R. Lupski, James R. Lupski, James R. Lupski, Ivan K. Chinn, Ivan K. Chinn, Tiphanie P. Vogel, Tiphanie P. Vogel, Jordan S. Orange, M. Cecilia Poli, M. Cecilia Poli, M. Cecilia Poli

    Published 2021-05-01
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  7. 7
    Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

    Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature by Aidé Tamara Staines Boone, Ivan K. Chinn, Ivan K. Chinn, Carmen Alaez-Versón, Marco A. Yamazaki-Nakashimada, Karol Carrillo-Sánchez, María de la Luz Hortensia García-Cruz, M. Cecilia Poli, M. Cecilia Poli, M. Edith González Serrano, Edgar A. Medina Torres, David Muzquiz Zermeño, Lisa R. Forbes, Lisa R. Forbes, Francisco J. Espinosa-Rosales, Francisco J. Espinosa-Rosales, Sara E. Espinosa-Padilla, Jordan S. Orange, Jordan S. Orange, Saul Oswaldo Lugo Reyes

    Published 2019-01-01
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  8. 8
    Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

    Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia by Matilde I. Conte, M. Cecilia Poli, Angelo Taglialatela, Giuseppe Leuzzi, Ivan K. Chinn, Sandra A. Salinas, Emma Rey-Jurado, Nixa Olivares, Liz Veramendi-Espinoza, Alberto Ciccia, James R. Lupski, Juan Carlos Aldave Becerra, Emily M. Mace, Jordan S. Orange

    Published 2022-11-01
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  9. 9
    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

    Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome by Alejandra Aird, Macarena Lagos, Macarena Lagos, Alexander Vargas-Hernández, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Shalini Jhangiani, Emily M. Mace, Anaid Reyes, Alejandra King, Felipe Cavagnaro, Lisa R. Forbes, Ivan K. Chinn, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Maria Cecilia Poli, Maria Cecilia Poli

    Published 2019-07-01
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  10. 10
    Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality

    Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality by Jacqueline D. Squire, Stephanie N. Vazquez, Angela Chan, Michele E. Smith, Deepak Chellapandian, Laura Vose, Beatriz Teppa, I. Celine Hanson, Ivan K. Chinn, Lisa Forbes-Satter, Filiz O. Seeborg, Sarah K. Nicholas, Caridad A. Martinez, Carl E. Allen, Thomas J. Connors, Prakash Satwani, Maria Shtessel, Hanadys Ale, Lenora M. Noroski, Nicholas L. Rider, Joshua D. Milner, Jennifer W. Leiding

    Published 2020-12-01
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  11. 11
    An ELF4 hypomorphic variant results in NK cell deficiency

    An ELF4 hypomorphic variant results in NK cell deficiency by Sandra Andrea Salinas, Emily M. Mace, Matilde I. Conte, Chun Shik Park, Yu Li, Joshua I. Rosario-Sepulveda, Sanjana Mahapatra, Emily K. Moore, Evelyn R. Hernandez, Ivan K. Chinn, Abigail E. Reed, Barclay J. Lee, Alexander Frumovitz, Richard A. Gibbs, Jennifer E. Posey, Lisa R. Forbes Satter, Akaluck Thatayatikom, Eric J. Allenspach, Theodore G. Wensel, James R. Lupski, H. Daniel Lacorazza, Jordan S. Orange

    Published 2022-12-01
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