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IVAN CHINN

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1102 BATES
Houston, TX 77030
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    Collapse Bibliographic 
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6). PMID: 38563820; PMCID: PMC10986756.
      Citations:    Fields:    Translation:Humans
    2. Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani S, Doddapaneni H, Meng Q, Lambert C, Zhang S, Baybayan P, Henno G, Han T, Yi H, Riegler C, Metcalf G, Ivan CK, Eberle MA, Kingan S, Farinholt T, Claudia C, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ, Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani SN, Doddapaneni H, Meng Q, Han T, Lambert C, Zhang S, Baybayan P, Henno G, Shen H, Hu J, Han Y, Riegler C, Metcalf G, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ. Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 Mar 18. PMID: 38562723; PMCID: PMC10984040.
      Citations:    
    3. Reed AE, Peraza J, van den Haak F, Hernandez ER, Gibbs RA, Chinn IK, Lupski JR, Marchi E, Reshef R, Alobeid B, Mace EM, Orange JS. ?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 Mar 15; 212(6):962-973. PMID: 38315012.
      Citations:    Fields:    Translation:HumansCells
    4. Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2024 Jan 22; 44(2):53. PMID: 38252398; PMCID: PMC10803554.
      Citations:    Fields:    
    5. Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR. Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. J Allergy Clin Immunol. 2024 01; 153(1):216-229. PMID: 37714437.
      Citations:    Fields:    Translation:HumansAnimalsCells
    6. Ceylan A, Tekdemir IE, Kocak N, Chinn IK, Orange JS, Artac H. Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders. Front Pediatr. 2023; 11:1211254. PMID: 37520055; PMCID: PMC10373501.
      Citations:    
    7. Martinez C, Aguayo-Hiraldo P, Chaimowitz N, Forbes L, Rider N, Nicholas S, Seeborg F, Chinen J, Chinn I, Davis C, Roseblatt H, Noroski L, Omer B, John T, Yassine K, Naik S, Craddock J, Bhar S, Allen C, Ahmed N, Sasa G, Steffin D, Doherty E, George A, Salem B, Friend B, Hegde M, Brenner MK, Heslop HE, Leen A, Pe?a A, Wu M, Hanson IC, Krance RA. Cord blood transplantation for nonmalignant disorders: early functional immunity and high survival. Blood Adv. 2023 05 09; 7(9):1823-1830. PMID: 36453638; PMCID: PMC10165184.
      Citations: 1     Fields:    Translation:HumansCTClinical Trials
    8. Hale RC, Owen N, Yuan B, Chinn IK, SOCS1 Study Group. Phenotypic Variability of SOCS1 Haploinsufficiency. J Clin Immunol. 2023 07; 43(5):902-906. PMID: 36890397.
      Citations:    Fields:    Translation:Humans
    9. Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. 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. PMID: 36648576; PMCID: PMC9892161.
      Citations: 3     Fields:    Translation:HumansCells
    10. Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 12 08; 7(23). PMID: 36477361; PMCID: PMC9746917.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    11. Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 11 08; 7(21). PMID: 36345943; PMCID: PMC9675456.
      Citations: 2     Fields:    Translation:HumansCells
    12. Ghosh R, Bosticardo M, Singh S, Similuk M, Delmonte OM, Pala F, Peng C, Jodarski C, Keller MD, Chinn IK, Groves AK, Notarangelo LD, Walkiewicz MA, Chinen J, Bundy V. FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia. J Allergy Clin Immunol. 2022 12; 150(6):1556-1562. PMID: 35987349; PMCID: PMC9742176.
      Citations:    
    13. Lin H, Scull BP, Goldberg BR, Abhyankar HA, Eckstein OE, Zinn DJ, Lubega J, Agrusa J, El Mallawaney N, Gulati N, Forbes L, Chinn I, Chakraborty R, Velasquez J, Goldman J, Bashir D, Lam F, Muscal E, Henry MM, Greenberg JN, Ladisch S, Hermiston ML, Meyer LK, Jeng M, Naqvi A, McClain K, Nguyen T, Wong H, Man TK, Jordan MB, Allen CE. IFN-? signature in the plasma proteome distinguishes pediatric hemophagocytic lymphohistiocytosis from sepsis and SIRS. Blood Adv. 2021 09 14; 5(17):3457-3467. PMID: 34461635; PMCID: PMC8525230.
      Citations: 4     Fields:    Translation:Humans
    14. Weerts MJA, Lanko K, Jackson A, Ramakrishnan R, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS, Guzm?n-Vega FJ, Cardona-Londo?o KJ, Pe?a-Guerra KA, J?rvel? I, Lauronen L, M??tt? T. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137. PMID: 34345025; PMCID: PMC8553606.
      Citations: 4     Fields:    Translation:Humans
    15. Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK, Poli MC. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766. PMID: 34329649; PMCID: PMC8795244.
      Citations: 1     Fields:    Translation:HumansCells
    16. Chinn IK, Xie Z, Chan EC, Nagata BM, Koval A, Chen WS, Zhang F, Ganesan S, Hong DN, Suzuki M, Nardone G, Moore IN, Katanaev VL, Balazs AE, Liu C, Lupski JR, Orange JS, Druey KM. Short stature and combined immunodeficiency associated with mutations in RGS10. Sci Signal. 2021 07 27; 14(693). PMID: 34315806; PMCID: PMC8522579.
      Citations: 2     Fields:    Translation:HumansCells
    17. Palmieri JM, Diaz VC, Falcetano GA, Jasper CE, Chinn IK, Anvari S. A novel case discussion of pediatric lipid transfer protein syndrome. J Allergy Clin Immunol Pract. 2021 10; 9(10):3836-3837. PMID: 34224926.
      Citations:    Fields:    Translation:Humans
    18. Wu CW, Sasa G, Salih A, Nicholas S, Vogel TP, Cahill G, Kuehn HS, Rosenzweig SD, Zhou Q, Chinn IK, Yuan B. Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 08; 41(6):1420-1423. PMID: 34032947.
      Citations:    Fields:    Translation:HumansCells
    19. Coban-Akdemir Z, Yuan B, Gibbs RA, Burrage LC, Lupski JR, Chinn IK, Vogel TP, Orange JS, Contreras JL, Ladino MA, Ar?nguiz K, Mendez GP, Poli MC. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr. 2021; 9:673957. PMID: 34095032; PMCID: PMC8172984.
      Citations: 3     
    20. Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7). PMID: 33951726; PMCID: PMC8105723.
      Citations: 3     Fields:    Translation:HumansCells
    21. Rider NL, Cahill G, Motazedi T, Wei L, Kurian A, Noroski LM, Seeborg FO, Chinn IK, Roberts K. PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections. PLoS One. 2021; 16(2):e0237285. PMID: 33591972; PMCID: PMC7886140.
      Citations:    Fields:    Translation:Humans
    22. Saettini F, Poli C, Vengoechea J, Bonanomi S, Fazio G, Rodriguez FH, Booth C, Shams M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A, Orellana JC, Noguera LP, Jarur-Chamy V, Iascone M, van der Maarel S. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 01 28; 137(4):493-499. PMID: 32905580; PMCID: PMC7845007.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    23. Squire JD, Vazquez SN, Chan A, Smith ME, Chellapandian D, Vose L, Teppa B, Hanson IC, Chinn IK, Forbes-Satter L, Seeborg FO, Nicholas SK, Martinez CA, Allen CE, Connors TJ, Satwani P, Shtessel M, Ale H, Noroski LM, Rider NL, Milner JD, Leiding JW. Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality. Front Immunol. 2020; 11:581475. PMID: 33362767; PMCID: PMC7756012.
      Citations: 2     Fields:    Translation:Humans
    24. Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS, Stray-Pedersen A. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 10 01; 130(10):5272-5286. PMID: 32865517; PMCID: PMC7524476.
      Citations: 11     Fields:    Translation:HumansCells
    25. Anjani G, Jindal AK, Prithvi A, Kaur A, Rawat A, Sharma M, Yuan B, Chinn IK, Singh S. 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. PMID: 32974768.
      Citations: 1     Fields:    Translation:Humans
    26. Chinn IK, Orange JS. A 2020 update on the use of genetic testing for patients with primary immunodeficiency. Expert Rev Clin Immunol. 2020 09; 16(9):897-909. PMID: 32822560.
      Citations: 1     Fields:    Translation:Humans
    27. Kuhny M, Forbes LR, Vega-Loza A, Kostiuk V, Dinesh RK, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E, ?akan E, Glauzy S. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422. PMID: 32484799; PMCID: PMC7410074.
      Citations: 6     Fields:    Translation:HumansCells
    28. Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ, Vargas-Hern?ndez A. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 07 10; 369(6500):202-207. PMID: 32647003; PMCID: PMC8383235.
      Citations: 23     Fields:    Translation:HumansCells
    29. Joseph M, Chew WT, Seeborg F, Satter LF, Anvari S, Chinn IK, Davis CM, Gupta MR, Nicholas S, Noroski LM, James M, Deniskin R, Diaz VC, Lowe J, Lee GL, Craddock MF, Chan AJ, Rider NL. Intralesional Corticosteroids as Adjunctive Therapy for Refractory Cutaneous Lesions in Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2020 09; 8(8):2769-2770. PMID: 32600996.
      Citations:    Fields:    Translation:Humans
    30. Ravell JC, Matsuda-Lennikov M, Chauvin SD, Zou J, Biancalana M, Deeb SJ, Price S, Su HC, Notarangelo G, Jiang P, Morawski A, Kanellopoulou C, Binder K, Mukherjee R, Anibal JT, Sellers B, Zheng L, He T, George AB, Pittaluga S, Powers A, Kleiner DE, Kapuria D, Ghany M, Hunsberger S, Cohen JI, Uzel G, Bergerson J, Wolfe L, Toro C, Gahl W, Folio LR, Matthews H, Angelus P, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Orrego-Arango J, Patel NC, Raymond K, Patiroglu T, Unal E, Karakukcu M, Day AG, Mehta P, Masutani E, De Ravin SS, Malech HL, Rao VK, Mann M, Lenardo MJ, Guti?rrez-Hincapi? S, Altan-Bonnet G. Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease. J Clin Invest. 2020 01 02; 130(1):507-522. PMID: 31714901; PMCID: PMC6934229.
      Citations: 30     Fields:    Translation:HumansCells
    31. Somekh I, Thian M, Medgyesi D, Magg T, Stauber T, Lev A, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Conca R, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Chinn IK, Orange JS, Hauck F, Somech R, Klein C, Boztug K, G?lez N, Gall?n Duque A, Genel F, ?zer E, Akcal ?, Patiroglu T, Martinez-Jaramillo C, Trujillo-Vargas CM, Franco JL. CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 2019 10 31; 134(18):1510-1516. PMID: 31501153; PMCID: PMC6839947.
      Citations: 24     Fields:    Translation:Humans
    32. Lam MT, Brigida I, Scala S, Netter P, Carisey AF, Diehl M, Camerini S, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Chinn IK, Lupski JR, Mace EM, Aiuti A, Orange JS, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Zara E, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Farina L, Buchholzer M, Pannone L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Cancrini C, Ahmadian MR, De Benedetti F, Tartaglia M. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799. PMID: 31601675; PMCID: PMC6888978.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    33. Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg N, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE. 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. PMID: 31568798.
      Citations: 19     Fields:    Translation:Humans
    34. Burk CM, Coffey KE, Mace EM, Bostwick BL, Chinn IK, Coban-Akdemir ZH, Jhangiani SN, Lupski JR, Ortiz D, Barnum JL, Allen SW, Robertson LM, Orange JS, Chong HJ. 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. PMID: 31520839; PMCID: PMC7064430.
      Citations: 2     Fields:    Translation:HumansCells
    35. Posey JE, Coban-Akdemir Z, Jhangiani S, Mace EM, Reyes A, Forbes LR, Chinn IK, Lupski JR, Orange JS, Aird A, Lagos M, Vargas-Hern?ndez A, King A, Cavagnaro F, Poli MC. 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. Front Pediatr. 2019; 7:303. PMID: 31417880; PMCID: PMC6682634.
      Citations: 6     
    36. Chinn IK, Orange JS. Immunodeficiency Disorders. Pediatr Rev. 2019 May; 40(5):229-242. PMID: 31043442.
      Citations: 7     Fields:    Translation:Humans
    37. Tillman R, Guillerman RP, Trojan T, Silva-Carmona M, Chinn IK. Treatment-Responsive Granulomatous-Lymphocytic Interstitial Lung Disease in a Pediatric Case of Common Variable Immunodeficiency. Front Pediatr. 2019; 7:105. PMID: 30984724; PMCID: PMC6449420.
      Citations: 6     
    38. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Shen W, Mao R, Heaney JD, Orange JS, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B, Huber C, Cormier-Daire V, Bertola D, Yamamoto GL, Baratela WAR. 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. PMID: 30773277; PMCID: PMC6408318.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    39. Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW, Volpi S, D?ckers G, Stray-Pedersen A. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2019 06; 143(6):2296-2299. PMID: 30771411; PMCID: PMC6677392.
      Citations: 31     Fields:    Translation:Humans
    40. Chinn IK, Yamazaki-Nakashimada MA, Poli MC, Medina Torres EA, Forbes LR, Espinosa-Rosales FJ, Espinosa-Padilla SE, Orange JS, Lugo Reyes SO, Staines Boone AT, Alaez-Vers?n C, Carrillo-S?nchez K, Garc?a-Cruz MLH, Gonz?lez Serrano ME, Muzquiz Zerme?o D. Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature. Front Pediatr. 2018; 6:426. PMID: 30719430; PMCID: PMC6348249.
      Citations: 15     
    41. Chinn IK, Bostwick BL. The role of genomic approaches in diagnosis and management of primary immunodeficiency. Curr Opin Pediatr. 2018 12; 30(6):791-797. PMID: 30234646.
      Citations: 2     Fields:    Translation:Humans
    42. Hartono SP, Ponsford MJ, Chinn IK, Jolles S, Wilson K, Forbes LR, Vargas-Hern?ndez A. Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. J Clin Immunol. 2018 10; 38(7):753-756. PMID: 30317461.
      Citations: 6     Fields:    Translation:Humans
    43. Goldman J, Desai MS, McClain KL, Tcharmtchi MH, Kennedy CE, Thompson K, Lam F, Bashir DA, Chinn IK, Goldberg BR, Allen CE, Nguyen TC. Hepatobiliary Dysfunction and Disseminated Intravascular Coagulation Increase Risk of Mortality in Pediatric Hemophagocytic Lymphohistiocytosis. Pediatr Crit Care Med. 2018 10; 19(10):e522-e530. PMID: 30113519; PMCID: PMC9097722.
      Citations: 6     Fields:    Translation:Humans
    44. Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL, Sch?ffer AA. 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. PMID: 30170123; PMCID: PMC6395549.
      Citations: 36     Fields:    Translation:Humans
    45. Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB, Poli C. 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. PMID: 30032986; PMCID: PMC6081281.
      Citations: 70     Fields:    Translation:HumansCells
    46. Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Undiagnosed Diseases Network members, Lupski JR, Bostwick BL, Orange JS, Poli MC, Ebstein F, Benavides F, Zieba BA, K?ry S, Kr?ger E. 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. PMID: 29805043; PMCID: PMC5992134.
      Citations: 51     Fields:    Translation:HumansCells
    47. Konno H, Chinn IK, Hong D, Orange JS, Lupski JR, Mendoza A, Pedroza LA, Barber GN. 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. PMID: 29694889; PMCID: PMC6092751.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    48. Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE, Stray-Pedersen A. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100. PMID: 29632024; PMCID: PMC6034641.
      Citations: 47     Fields:    Translation:HumansCTClinical Trials
    49. Yanir AD, Hanson IC, Shearer WT, Noroski LM, Forbes LR, Seeborg FO, Nicholas S, Chinn I, Orange JS, Rider NL, Leung KS, Naik S, Carrum G, Sasa G, Hegde M, Omer BA, Ahmed N, Allen CE, Khaled Y, Wu MF, Liu H, Gottschalk SM, Heslop HE, Brenner MK, Krance RA, Martinez CA. High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease. Biol Blood Marrow Transplant. 2018 08; 24(8):1643-1650. PMID: 29630926.
      Citations: 8     Fields:    Translation:Humans
    50. Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM, Ruiz-Garc?a R, Vargas-Hern?ndez A, Allende LM. 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. PMID: 29330011; PMCID: PMC6109967.
      Citations: 17     Fields:    Translation:HumansCells
    51. Mace EM, Zimmerman O, Zerbe CS, Freeman AF, Rosenzweig S, Leiding JW, Torgerson T, Altman MC, Schussler E, Cunningham-Rundles C, Chinn IK, Carisey AF, Hanson IC, Rider NL, Holland SM, Orange JS, Forbes LR, Vargas-Hern?ndez A. 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. PMID: 29111217; PMCID: PMC5924437.
      Citations: 29     Fields:    Translation:HumansCells
    52. Rios X, Chinn IK, Orange JS, Hanson CI, Rider NL. T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication. Front Pediatr. 2017; 5:156. PMID: 28770187; PMCID: PMC5513981.
      Citations: 2     
    53. Chinn IK, Sanders RP, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC, Stray-Pedersen A. Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Front Immunol. 2017; 8:576. PMID: 28603521; PMCID: PMC5445153.
      Citations: 8     Fields:    
    54. Guerrero N, Akdemir ZC, Jhangiani SN, Watkin LB, Chinn IK, Lupski JR, Orange JS, Pedroza LA, Stray-Pedersen A, Tafur C, Macias R, Mu?oz G. First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr. 2017; 5:17. PMID: 28239602; PMCID: PMC5300990.
      Citations: 4     
    55. Perez EE, Orange JS, Bonilla F, Chinen J, Chinn IK, Dorsey M, El-Gamal Y, Harville TO, Hossny E, Mazer B, Nelson R, Secord E, Jordan SC, Stiehm ER, Vo AA, Ballow M. Update on the use of immunoglobulin in human disease: A?review of evidence. J Allergy Clin Immunol. 2017 Mar; 139(3S):S1-S46. PMID: 28041678.
      Citations: 141     Fields:    Translation:HumansAnimals
    56. Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Coban Akdemir Z, Smith JB, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ, Gibbs RA, Holland SM, Caligiuri MA, Ozato K, Paust S, Doody GM, Lupski JR, Orange JS, Stray-Pedersen A, Hern?ndez-Sanabria M. Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320. PMID: 27893462; PMCID: PMC5199714.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    57. van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92. PMID: 27427983; PMCID: PMC4966312.
      Citations: 29     Fields:    Translation:HumansCells
    58. Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Abrahamsen TG, Bechensteen AG, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Karaca E, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR, Stray-Pedersen A, Sorte HS, R?dningen OK, Fevang B, Aukrust P, Tj?nnfjord GE, Nord?y I, J?rgensen SF, ?verland T, Skogen V, Franco JL, Trujillo Vargas CM, Cancrini C, Holmberg E, West C, Burstedt M, Yesil G, Flat? B. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. PMID: 27577878; PMCID: PMC5222743.
      Citations: 99     Fields:    Translation:Humans
    59. Yu H, Zhang VW, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ, Stray-Pedersen A. 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. PMID: 27484032.
      Citations: 26     Fields:    Translation:Humans
    60. Vece TJ, Watkin LB, Nicholas S, Canter D, Braun MC, Guillerman RP, Eldin KW, Bertolet G, McKinley S, de Guzman M, Forbes L, Chinn I, Orange JS. Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. J Clin Immunol. 2016 05; 36(4):377-387. PMID: 27048656; PMCID: PMC4842120.
      Citations: 46     Fields:    Translation:Humans
    61. Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, Chinn IK, Monaco-Shawver L, Heimall J, Hou C, Otieno FG, Jyonouchi S, Calabrese L, van Montfrans J, Orange JS, Hakonarson H. 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. PMID: 27016798; PMCID: PMC4976039.
      Citations: 18     Fields:    Translation:HumansCells
    62. Chinn IK, Shearer WT. Severe Combined Immunodeficiency Disorders. Immunol Allergy Clin North Am. 2015 Nov; 35(4):671-94. PMID: 26454313.
      Citations: 16     Fields:    Translation:HumansPHPublic Health
    63. Yu X, Almeida JR, Darko S, van der Burg M, DeRavin SS, Malech H, Gennery A, Chinn I, Markert ML, Douek DC, Milner JD. 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. PMID: 24406074; PMCID: PMC3972286.
      Citations: 36     Fields:    Translation:HumansCells
    64. Chinn IK, Milner JD, Scheinberg P, Douek DC, Markert ML. 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. PMID: 23607606; PMCID: PMC3694544.
      Citations:    
    65. Chinn IK, Blackburn CC, Manley NR, Sempowski GD. Changes in primary lymphoid organs with aging. Semin Immunol. 2012 Oct; 24(5):309-20. PMID: 22559987; PMCID: PMC3415579.
      Citations:    
    66. Chinn IK, Markert ML. 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. PMID: 21513969; PMCID: PMC3109298.
      Citations: 9     Fields:    Translation:HumansAnimals
    67. Markert ML, Devlin BH, McCarthy EA, Chinn IK, Albuquerque AS, Silva SL, Pignata C, Victorino RM, Picard C, Debre M, Mahlaoui N, Fischer A, Sousa AE, Marques JG, Neven B, de Saint Basile G. First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. Blood. 2011 Jan 13; 117(2):688-96. PMID: 20978268; PMCID: PMC3031487.
      Citations: 40     Fields:    Translation:HumansCTClinical Trials
    68. Veerapandiyan A, Chinn IK, Schoch K, Maloney KA, Shashi V. 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. PMID: 20887823.
      Citations:    Fields:    Translation:HumansCells
    69. Chinn IK, Olson JA, Skinner MA, McCarthy EA, Gupton SE, Chen DF, Bonilla FA, Roberts RL, Kanariou MG, Devlin BH, Markert ML. 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. PMID: 20832849; PMCID: PMC2962450.
      Citations: 4     Fields:    Translation:HumansCTClinical Trials
    70. Markert ML, Devlin BH, Chinn IK, McCarthy EA. Thymus transplantation in complete DiGeorge anomaly. Immunol Res. 2009; 44(1-3):61-70. PMID: 19066739; PMCID: PMC4951183.
      Citations:    
    71. Markert ML, Devlin BH, Chinn IK, McCarthy EA, Li YJ. Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant. 2008 Aug; 8(8):1729-36. PMID: 18557726; PMCID: PMC3667673.
      Citations:    
    72. Chinn IK, Devlin BH, Li YJ, Markert ML. Long-term tolerance to allogeneic thymus transplants in complete DiGeorge anomaly. Clin Immunol. 2008 Mar; 126(3):277-81. PMID: 18155964; PMCID: PMC2562745.
      Citations:    
    73. Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC. 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. PMID: 17284531; PMCID: PMC1885498.
      Citations: 81     Fields:    Translation:HumansCells
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