IvanK.ChinnMD

PubMed

• Closing the gap: Solving complex medically relevant genes at scale.
  Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini N Jhangiani, Harsha Doddapaneni, Qingchang Meng, Tina Han, Christine Lambert, Siyuan Zhang, Primo Bayba...> ;Medrxiv. 2024 Mar 18
• β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
  Reed, A., Peraza, J., van den Haak, F., Hernandez, E., Gibbs, R., Chinn, I., Lupski, J., Marchi, E., Reshef, R., Alobeid, B., Mace, E., Orange, J.> ;Journal of Immunology. 2024 Mar 15
• Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
  Haddad, E., Davies, E., de la Morena, M., Hartog, N., Yu, J., Ip, W., Franco, J., Gambineri, E., Hickey, S., Varga, E., Markert, M., Mustillo, P., Sullivan, K., Chinn,...> ;Journal of Clinical Immunology. 2024 Jan 22
• Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
  Joshua B Alinger, Emily M Mace, Justin R Porter, Annelise Y Mah-Som, Allyssa L Daugherty, Stephanie Li, Allison A Throm, Jeanette T Pingel, Nermina Saucier, Albert Yao...> ;The Journal of Allergy and Clinical Immunology. 2024 Jan 1
• 2 citations
  Phenotypic Variability of SOCS1 Haploinsufficiency.
  Rebecca C Hale, Nichole Owen, Bo Yuan, Ivan K Chinn> ;Journal of Clinical Immunology. 2023 Jul 1
• 6 citations
  Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
  Peter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, Luigi D Notarangelo, Elie Haddad, E Graham Davies, Maria Teresa de la Morena, Nicholas Hartog, Joyce E Yu, Vivian ...> ;Journal of Clinical Immunology. 2023 Feb 1
• Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.
  Ayca Ceylan, Ilyas Emre Tekdemir, Nadir Kocak, Ivan Kingyue Chinn, Jordan Scott Orange, Hasibe Artac> ;Frontiers in Pediatrics. 2023 Jan 1
• 3 citations
  An ELF4 hypomorphic variant results in NK cell deficiency.
  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 C...> ;JCI Insight. 2022 Dec 8
• 4 citations
  Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival.
  Caridad Martinez, Paibel Aguayo-Hiraldo, Natalia Chaimowitz, Lisa Forbes, Nicholas Rider, Sarah Nicholas, Filiz Seeborg, Javier Chinen, Ivan Chinn, Carla Davis, Howard...> ;Blood Advances. 2023 May 9
• 6 citations
  Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
  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 ...> ;JCI Insight. 2022 Nov 8
• 6 citations
  FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
  Rajarshi Ghosh, Marita Bosticardo, Sunita Singh, Morgan Similuk, Ottavia M Delmonte, Francesca Pala, Christine Peng, Colleen Jodarski, Michael D Keller, Ivan K Chinn, ...> ;The Journal of Allergy and Clinical Immunology. 2022 Dec 1
• 16 citations
  IFN-γ Signature in the Plasma Proteome Distinguishes Pediatric Hemophagocytic Lymphohistiocytosis from Sepsis and SIRS
  Howard Lin, Brooks Scull, Baruch Goldberg, Harshal Abhyankar, Olive E. Eckstein, Daniel J. Zinn, Joseph Lubega, Jennifer E. Agrusa, Nader El Mallawaney, Nitya Gulati, ...> ;Blood Advances. 2021 Sep 14
• 16 citations
  Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán-Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona-Londoño, Karla A. Peña-Guerra, Yolande van Bever, ...> ;Genetics in Medicine. 2021 Aug 3
• 2 citations
  Short stature and combined immunodeficiency associated with mutations in RGS10
  Ivan K. Chinn, Zhihui Xie, Eunice C. Chan, Bianca M. Nagata, Alexey Koval, Wei-Sheng Chen, Fan Zhang, Sundar Ganesan, Diana N. Hong, Motoshi Suzuki, Glenn Nardone, Ian...> ;Science Signaling. 2021 Jul 27
• 5 citations
  Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
  Lisa R. Forbes, Olive S. Eckstein, Nitya Gulati, Erin C. Peckham-Gregory, Nmazuo W. Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Jennifer E. Agrusa, M. Cecilia Poli, ...> ;The Journal of Allergy and Clinical Immunology. 2021 Jul 28
• 26 citations
  Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
  Carole Le Coz, David N. Nguyen, Chun Su, Brian Nolan, Amanda V. Albrecht, Suela Xhani, Di Sun, Benjamin Demaree, Piyush Pillarisetti, Caroline Khanna, Francis Wright, ...> ;The Journal of Experimental Medicine. 2021 Jul 5
• 1 citations
  A novel case discussion of pediatric lipid transfer protein syndrome.
  Jessica M. Palmieri, Veronica C. Diaz, Gary A. Falcetano, Courtney E. Jasper, Ivan K. Chinn, Sara Anvari> ;The Journal of Allergy and Clinical Immunology. in Practice. 2021 Jul 2
• 2 citations
  Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3.
  Chung Wah Wu, Ghadir S. Sasa, Amanda Salih, Sarah K. Nicholas, Tiphanie P. Vogel, Gina Cahill, Hye Sun Kuehn, Sergio D. Rosenzweig, Qing Zhou, Ivan K. Chinn, Bo Yuan> ;Journal of Clinical Immunology. 2021 May 25
• 10 citations
  Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.
  Josefina Longeri Contreras, Mabel Ladino, Katherine Aránguiz, Gonzalo P. Méndez, Zeynep Coban-Akdemir, Bo Yuan, Richard A. Gibbs, Lindsay C. Burrage, James R. Lupski, ...> ;Frontiers in Pediatrics. 2021 May 20
• 9 citations
  PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.
  Nicholas L. Rider, Gina Cahill, Tina Motazedi, Lei Wei, Ashok Kurian, Lenora M. Noroski, Filiz O. Seeborg, Ivan K. Chinn, Kirk Roberts> ;Plos One. 2021 Feb 16
• 3 citations
  Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI).
  Gummadi Anjani, Ankur Kumar Jindal, Ashwini Prithvi, Anit Kaur, Amit Rawat, Madhubala Sharma, Bo Yuan, Ivan K. Chinn, Surjit Singh> ;Journal of Clinical Immunology. 2021 Jan 1
• 6 citations
  Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.
  Jacqueline D. Squire, Stephanie N. Vazquez, Angela Chan, Michele E. Smith, Deepak Chellapandian, Laura Vose, Beatriz Teppa, I. Celine Hanson, Ivan K. Chinn, Lisa Forbe...> ;Frontiers in Immunology. 2020 Dec 9
• 21 citations
  Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
  Francesco Saettini, Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio C Orellana, Grazia Fazio, Fred H. Rodriguez, Loreani P Noguera, Claire Booth, Valentina Jarur...> ;Blood. 2021 Jan 28
• 9 citations
  A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
  Ivan K. Chinn, Jordan S. Orange> ;Expert Review of Clinical Immunology. 2020 Sep 7
• 35 citations
  Human NK cell deficiency as a result of biallelic mutations in MCM10.
  Emily M. Mace, Silke Paust, Matilde I. Conte, Ryan M. Baxley, Megan Schmit, Sagar L. Patil, Nicole C. Guilz, Malini Mukherjee, Ashley E. Pezzi, Jolanta Chmielowiec, Sw...> ;The Journal of Clinical Investigation. 2020 Oct 1
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