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Iván K. Chinn

Texas Children's Hospital

39H-index
169Paper Count
5.8KCitation Count
Published Papers 68
Publication Date
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
err2025-10-14
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PREAI
errVanessa C. Jacovas; Michelle Zelnick; Shannon McNulty; Justyne E. Ross; Namrata Khurana; Xueyang Pan; Alejandro Nieto; Shiloh Martin; Benjamin McLean; Marwa A. Elnagheeb; Morton J. Cowan; Jennifer M. Puck; Mike Hershfield; James Verbsky; Jolan Walter; Eric Allenspach; Alice Y. Chan; Nicolai S.C. van Oers; Rajarshi Ghosh; Megan Piazza; Bo Yuan; Luigi D. Notarangelo; Britt A. Johnson; Ivan K. Chinn
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The DNase TREX1 is a substrate of the intramembrane protease SPP with implications for disease pathogenesis
err2025-03-12
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errTever, Onur Kerem; Mentrup, Torben; Chinn, Ivan Kingyue; Ishikuma, Hitoshi; Fluhrer, Regina; Schmitz, Marc; Wehner, Rebekka; Behrendt, Rayk; Chinen, Javier; Schroeder, Bernd
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Accuracy of bead-based epitope assay testing for peanut allergy diagnosis
err2025-02-28
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PREAI
errJessica M. Palmieri; Vibha Szafron; Melissa Hearrell; Sara Anvari; Ivan K. Chinn; Josh D. Eubanks; Natalia Fernandez-Davila; Meera R. Gupta; Joud Hajjar; Larraine Lyter-Reed; Lenora Noroski; Ashley Reiland; Filiz Seeborg; Bob Getts; Paul Kearney; Heather Butler; Carla M. Davis
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Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets
err2025-02-28
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errOAAI
errBozkurt-Yozgatli, Tugce; Lun, Ming Yin; Bengtsson, Jesse D.; Sezerman, Ugur; Chinn, Ivan K.; Coban-Akdemir, Zeynep; Carvalho, Claudia M. B.
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
err2025-02-01
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errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
err2025-02-01
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errOAAI
errAbdalgani, Manar; Hernandez, Evelyn R.; Pedroza, Luis A.; Chinn, Ivan K.; Satter, Lisa R. Forbes; Rider, Nicholas L.; Banerjee, Pinaki P.; Poli, M. Cecilia; Mahapatra, Sanjana; Canter, Debra; Cao, Tram; Shawver, Linda M.; Nandiwada, Sarada L.; Lupski, James R.; Posey, Jennifer E.; Ramakrishnan, Rajasekhar; Mace, Emily M.
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The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity
err2025-01-01
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errOAAI
errPedroza, Luis A.; van den Haak, Frederique; Frumovitz, Alexander; Hernandez, Evelyn; Hegewisch-Solloa, Everardo; Orange, Tabitha K.; Sheehan, Keri B.; Prockop, Susan; Bodansky, Aaron; Chinn, Ivan K.; Lupski, James R.; Posey, Jennifer E.; Mace, Emily M.; Li, Yu; Orange, Jordan S.
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis (vol 221, e20232387, 2024)
err2024-05-06
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errHoresh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan
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Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
err2024-04-02
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errOAAI
errHoresh, Michael E.; Martin-Fernandez, Marta; Gruber, Conor; Buta, Sofija; Le Voyer, Tom; Puzenat, Eve; Lesmana, Harry; Wu, Yiming; Richardson, Ashley; Stein, David; Hodeib, Stephanie; Youssef, Mariam; Kurowski, Jacob A.; Feuille, Elizabeth; Pedroza, Luis A.; Fuleihan, Ramsay L.; Haseley, Alexandria; Hovnanian, Alain; Quartier, Pierre; Rosain, Jeremie; Davis, Georgina; Mullan, Daniel; Stewart, O'Jay; Patel, Roosheel; Lee, Angelica E.; Rubinstein, Rebecca; Ewald, Leyla; Maheshwari, Nikhil; Rahming, Virginia; Chinn, Ivan K.; Lupski, James R.; Orange, Jordan S.; Sancho-Shimizu, Vanessa; Casanova, Jean-Laurent; Abul-Husn, Noura S.; Itan, Yuval; Milner, Joshua D.; Bustamante, Jacinta; Bogunovic, Dusan
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Elevated Serum IgA at Onset of Type 1 Diabetes in Children
err2024-03-19
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errThakkar, Amruta; Huang, Xiaofan; Wang, Johnny; Hwu, Kathy; Chinn, Ivan K.; Minard, Charles; Hajjar, Joud; Redondo, Maria J.
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(3-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination
err2024-02-05
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errReed, Abigail E.; Peraza, Jackeline; van den Haak, Frederique; Hernandez, Evelyn R.; Gibbs, Richard A.; Chinn, Ivan K.; Lupski, James R.; Marchi, Enrica; Reshef, Ran; Alobeid, Bachir; Mace, Emily M.; Orange, Jordan S.
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Human PLCG2 haploinsufficiency results in a nowel natural killer cell immunodeficiency
err2024-01-01
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PREAI
errAlinger, Joshua B.; Mace, Emily M.; Porter, Justin. R.; Mah-Som, Annelise Y.; Daugherty, Allyssa L.; Li, Stephanie; Throm, Allison A.; Pingel, Jeanette T.; Saucier, Nermina; Yao, Albert; Chinn, Ivan K.; Lupski, James R.; Ehlayel, Mohammad; Keller, Michael; Bowman, Greg R.; Cooper, Megan A.; Orange, Jordan S.; French, Anthony R.
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Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival
err2023-04-28
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errMartinez, Caridad; Aguayo-Hiraldo, Paibel; Chaimowitz, Natalia; Forbes, Lisa; Rider, Nicholas; Nicholas, Sarah; Seeborg, Filiz; Chinen, Javier; Chinn, Ivan; Davis, Carla; Roseblatt, Howard; Noroski, Lenora; Omer, Bilal; John, Tami; Yassine, Khaled; Naik, Swati; Craddock, John; Bhar, Saleh; Allen, Carl; Ahmed, Nabil; Sasa, Ghadir; Steffin, David; Doherty, Erin; George, Anil; Salem, Baheyeldin; Friend, Brian; Hegde, Meenakshi; Brenner, Malcolm K.; Heslop, Helen E.; Leen, Ann; Pena, Amand; Wu, Mengfen; Hanson, I. Celine; Krance, Robert A.
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Phenotypic Variability of SOCS1 Haploinsufficiency
err2023-03-09
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PREAI
errHale, Rebecca; Owen, Nichole H.; Yuan, Bo; Chinn, Ivan
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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
err2023-01-17
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errMustillo, Peter J. J.; Sullivan, Kathleen E. E.; Chinn, Ivan K. K.; Notarangelo, Luigi D. D.; Haddad, Elie; Davies, E. Graham; de la Morena, Maria Teresa; Hartog, Nicholas; Yu, Joyce E. E.; Hernandez-Trujillo, Vivian P. P.; Ip, Winnie; Franco, Jose; Gambineri, Eleonora; Hickey, Scott E. E.; Varga, Elizabeth; Markert, M. Louise
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An ELF4 hypomorphic variant results in NK cell deficiency
err2022-12-08
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errSalinas, Sandra Andrea; Mace, Emily M.; Conte, Matilde I.; Park, Chun Shik; Li, Yu; Rosario-Sepulveda, Joshua I.; Mahapatra, Sanjana; Moore, Emily K.; Hernandez, Evelyn R.; Chinn, Ivan K.; Reed, Abigail E.; Lee, Barclay J.; Frumovitz, Alexander; Gibbs, Richard A.; Posey, Jennifer E.; Satter, Lisa R. Forbes; Thatayatikom, Akaluck; Allenspach, Eric J.; Wensel, Theodore G.; Lupski, James R.; Lacorazza, H. Daniel; Orange, Jordan S.
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FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia
err2022-12-01
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errOAAI
errGhosh, Rajarshi; Bosticardo, Marita; Singh, Sunita; Similuk, Morgan; Delmonte, Ottavia M.; Pala, Francesca; Peng, Christine; Jodarski, Colleen; Keller, Michael D.; Chinn, Ivan K.; Groves, Andrew K.; Notarangelo, Luigi D.; Walkiewicz, Magdalena A.; Chinen, Javier; Bundy, Vanessa
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Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia
err2022-11-08
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errOAAI
errConte, Matilde I.; Poli, M. Cecilia; Taglialatela, Angelo; Leuzzi, Giuseppe; Chinn, Ivan K.; Salinas, Sandra A.; Rey-Jurado, Emma; Olivares, Nixa; Veramendi-Espinoza, Liz; Ciccia, Alberto; Lupski, James R.; Becerra, Juan Carlos Aldave; Mace, Emily M.; Orange, Jordan S.
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