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Items: 1 to 50 of 216

1.

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance.

Ferré EMN, Break TJ, Burbelo PD, Allgäuer M, Kleiner DE, Jin D, Xu Z, Folio LR, Mollura DJ, Swamydas M, Gu W, Hunsberger S, Lee CR, Bondici A, Hoffman KW, Lim JK, Dobbs K, Niemela JE, Fleisher TA, Hsu AP, Snow LN, Darnell DN, Ojaimi S, Cooper MA, Bozzola M, Kleiner GI, Martinez JC, Deterding RR, Kuhns DB, Heller T, Winer KK, Rajan A, Holland SM, Notarangelo LD, Fennelly KP, Olivier KN, Lionakis MS.

Sci Transl Med. 2019 Jun 5;11(495). pii: eaav5597. doi: 10.1126/scitranslmed.aav5597.

PMID:
31167928
2.

IL15 by Continuous Intravenous Infusion to Adult Patients with Solid Tumors in a Phase I Trial Induced Dramatic NK-Cell Subset Expansion.

Conlon KC, Potter EL, Pittaluga S, Lee CR, Miljkovic MD, Fleisher TA, Dubois S, Bryant BR, Petrus M, Perera LP, Hsu J, Figg WD, Peer CJ, Shih JH, Yovandich JL, Creekmore SP, Roederer M, Waldmann TA.

Clin Cancer Res. 2019 Aug 15;25(16):4945-4954. doi: 10.1158/1078-0432.CCR-18-3468. Epub 2019 May 29.

3.

American Academy of Allergy, Asthma and Immunology response to the EAACI/GA2 LEN/EDF/WAO guideline for the definition, classification, diagnosis, and management of Urticaria 2017 revision.

Wood RA, Khan DA, Lang DM, Fasano MB, Peden DB, Busse PJ, Carter MC, Demain JG, Dinakar C, Grayson MH, Markovics SB, Sicherer SH, Stone KD, Sullivan KE, Williams PV, Fleisher TA, Casale TB.

Allergy. 2019 Feb;74(2):411-413. doi: 10.1111/all.13636. Epub 2018 Dec 12. No abstract available.

PMID:
30338538
4.

Flow cytometry: Surface markers and beyond.

Delmonte OM, Fleisher TA.

J Allergy Clin Immunol. 2019 Feb;143(2):528-537. doi: 10.1016/j.jaci.2018.08.011. Epub 2018 Aug 28.

PMID:
30170120
5.

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Haddad E, Logan BR, Griffith LM, Buckley RH, Parrott RE, Prockop SE, Small TN, Chaisson J, Dvorak CC, Murnane M, Kapoor N, Abdel-Azim H, Hanson IC, Martinez C, Bleesing JJH, Chandra S, Smith AR, Cavanaugh ME, Jyonouchi S, Sullivan KE, Burroughs L, Skoda-Smith S, Haight AE, Tumlin AG, Quigg TC, Taylor C, Dávila Saldaña BJ, Keller MD, Seroogy CM, Desantes KB, Petrovic A, Leiding JW, Shyr DC, Decaluwe H, Teira P, Gillio AP, Knutsen AP, Moore TB, Kletzel M, Craddock JA, Aquino V, Davis JH, Yu LC, Cuvelier GDE, Bednarski JJ, Goldman FD, Kang EM, Shereck E, Porteus MH, Connelly JA, Fleisher TA, Malech HL, Shearer WT, Szabolcs P, Thakar MS, Vander Lugt MT, Heimall J, Yin Z, Pulsipher MA, Pai SY, Kohn DB, Puck JM, Cowan MJ, O'Reilly RJ, Notarangelo LD.

Blood. 2018 Oct 25;132(17):1737-1749. doi: 10.1182/blood-2018-03-840702. Epub 2018 Aug 28.

PMID:
30154114
6.

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD.

J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11.

7.

The importance of allergic disease in public health: an iCAALL statement.

Sánchez-Borges M, Martin BL, Muraro AM, Wood RA, Agache IO, Ansotegui IJ, Casale TB, Fleisher TA, Hellings PW, Papadopoulos NG, Peden DB, Sublett JL, Tilles SA, Rosenwasser L.

World Allergy Organ J. 2018 Apr 27;11(1):8. doi: 10.1186/s40413-018-0187-2. eCollection 2018. No abstract available.

8.

Diagnostic dilemma: ALPS versus Evans syndrome.

Li E, Grimes AB, Rider NL, Mahoney DH, Fleisher TA, Shearer WT.

Clin Immunol. 2017 Oct;183:247-248. doi: 10.1016/j.clim.2017.08.006. Epub 2017 Aug 9. No abstract available.

PMID:
28802957
9.

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

Kuehn HS, Niemela JE, Sreedhara K, Stoddard JL, Grossman J, Wysocki CA, de la Morena MT, Garofalo M, Inlora J, Snyder MP, Lewis DB, Stratakis CA, Fleisher TA, Rosenzweig SD.

Blood. 2017 Sep 28;130(13):1553-1564. doi: 10.1182/blood-2017-05-782177. Epub 2017 Aug 4.

10.

Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.

Heimall J, Buckley RH, Puck J, Fleisher TA, Gennery AR, Haddad E, Neven B, Slatter M, Roderick S, Baker KS, Dietz AC, Duncan C, Griffith LM, Notarangelo L, Pulsipher MA, Cowan MJ.

Biol Blood Marrow Transplant. 2017 Aug;23(8):1229-1240. doi: 10.1016/j.bbmt.2017.04.026. Epub 2017 May 4. Review.

11.

Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience.

Marciano BE, Allen ES, Conry-Cantilena C, Kristosturyan E, Klein HG, Fleisher TA, Holland SM, Malech HL, Rosenzweig SD.

J Allergy Clin Immunol. 2017 Aug;140(2):622-625. doi: 10.1016/j.jaci.2017.02.026. Epub 2017 Mar 22. No abstract available.

12.

Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.

Notarangelo LD, Fleisher TA.

J Allergy Clin Immunol. 2017 Mar;139(3):715-723. doi: 10.1016/j.jaci.2017.01.004. Review.

13.

The microbiome in allergic disease: Current understanding and future opportunities-2017 PRACTALL document of the American Academy of Allergy, Asthma & Immunology and the European Academy of Allergy and Clinical Immunology.

Huang YJ, Marsland BJ, Bunyavanich S, O'Mahony L, Leung DY, Muraro A, Fleisher TA.

J Allergy Clin Immunol. 2017 Apr;139(4):1099-1110. doi: 10.1016/j.jaci.2017.02.007. Epub 2017 Feb 28. Review.

14.

Isotype Determination of Antibodies.

Hornbeck P, Fleisher TA, Papadopoulos NM.

Curr Protoc Immunol. 2017 Feb 2;116:2.2.1-2.2.7. doi: 10.1002/cpim.19.

PMID:
28150862
15.

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Weinacht KG, Charbonnier LM, Alroqi F, Plant A, Qiao Q, Wu H, Ma C, Torgerson TR, Rosenzweig SD, Fleisher TA, Notarangelo LD, Hanson IC, Forbes LR, Chatila TA.

J Allergy Clin Immunol. 2017 May;139(5):1629-1640.e2. doi: 10.1016/j.jaci.2016.11.022. Epub 2017 Jan 27.

16.

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT.

Heimall J, Puck J, Buckley R, Fleisher TA, Gennery AR, Neven B, Slatter M, Haddad E, Notarangelo LD, Baker KS, Dietz AC, Duncan C, Pulsipher MA, Cowan MJ.

Biol Blood Marrow Transplant. 2017 Mar;23(3):379-387. doi: 10.1016/j.bbmt.2016.12.619. Epub 2017 Jan 6. Review.

17.

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Ferre EM, Rose SR, Rosenzweig SD, Burbelo PD, Romito KR, Niemela JE, Rosen LB, Break TJ, Gu W, Hunsberger S, Browne SK, Hsu AP, Rampertaap S, Swamydas M, Collar AL, Kong HH, Lee CR, Chascsa D, Simcox T, Pham A, Bondici A, Natarajan M, Monsale J, Kleiner DE, Quezado M, Alevizos I, Moutsopoulos NM, Yockey L, Frein C, Soldatos A, Calvo KR, Adjemian J, Similuk MN, Lang DM, Stone KD, Uzel G, Kopp JB, Bishop RJ, Holland SM, Olivier KN, Fleisher TA, Heller T, Winer KK, Lionakis MS.

JCI Insight. 2016 Aug 18;1(13). pii: e88782.

18.

Phase II Study of Alemtuzumab (CAMPATH-1) in Patients with HTLV-1-Associated Adult T-cell Leukemia/lymphoma.

Sharma K, Janik JE, O'Mahony D, Stewart D, Pittaluga S, Stetler-Stevenson M, Jaffe ES, Raffeld M, Fleisher TA, Lee CC, Steinberg SM, Waldmann TA, Morris JC.

Clin Cancer Res. 2017 Jan 1;23(1):35-42. doi: 10.1158/1078-0432.CCR-16-1022. Epub 2016 Aug 2.

19.

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).

Johnston AM, Niemela J, Rosenzweig SD, Fried AJ, Delmonte OM, Fleisher TA, Kuehn H.

J Clin Immunol. 2016 Aug;36(6):541-3. doi: 10.1007/s10875-016-0309-y. Epub 2016 Jul 2. No abstract available.

20.

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD.

N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234.

21.

Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies.

Fleisher TA, Madkaikar M, Rosenzweig SD.

Indian J Pediatr. 2016 May;83(5):444-9. doi: 10.1007/s12098-015-2011-0. Epub 2016 Feb 11. Review.

22.

Adjuvant Immunotherapy to Improve Outcome in High-Risk Pediatric Sarcomas.

Merchant MS, Bernstein D, Amoako M, Baird K, Fleisher TA, Morre M, Steinberg SM, Sabatino M, Stroncek DF, Venkatasan AM, Wood BJ, Wright M, Zhang H, Mackall CL.

Clin Cancer Res. 2016 Jul 1;22(13):3182-91. doi: 10.1158/1078-0432.CCR-15-2550. Epub 2016 Jan 28.

23.

90Y-daclizumab, an anti-CD25 monoclonal antibody, provided responses in 50% of patients with relapsed Hodgkin's lymphoma.

Janik JE, Morris JC, O'Mahony D, Pittaluga S, Jaffe ES, Redon CE, Bonner WM, Brechbiel MW, Paik CH, Whatley M, Chen C, Lee JH, Fleisher TA, Brown M, White JD, Stewart DM, Fioravanti S, Lee CC, Goldman CK, Bryant BR, Junghans RP, Carrasquillo JA, Worthy T, Corcoran E, Conlon KC, Waldmann TA.

Proc Natl Acad Sci U S A. 2015 Oct 20;112(42):13045-50. doi: 10.1073/pnas.1516107112. Epub 2015 Oct 5.

24.

Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.

Leiding JW, Sriaroon P, Ly JM, Petrovic A, Howard DL, Shamblott M, Kuehn HS, Fleisher TA.

Ann Allergy Asthma Immunol. 2015 Jul;115(1):1-3. doi: 10.1016/j.anai.2015.04.024. No abstract available.

PMID:
26123418
25.

JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities.

Calvo KR, Price S, Braylan RC, Oliveira JB, Lenardo M, Fleisher TA, Rao VK.

Blood. 2015 Apr 30;125(18):2753-8. doi: 10.1182/blood-2014-11-567917. Epub 2015 Feb 17. Review.

26.

Acute GVHD in patients receiving IL-15/4-1BBL activated NK cells following T-cell-depleted stem cell transplantation.

Shah NN, Baird K, Delbrook CP, Fleisher TA, Kohler ME, Rampertaap S, Lemberg K, Hurley CK, Kleiner DE, Merchant MS, Pittaluga S, Sabatino M, Stroncek DF, Wayne AS, Zhang H, Fry TJ, Mackall CL.

Blood. 2015 Jan 29;125(5):784-92. doi: 10.1182/blood-2014-07-592881. Epub 2014 Dec 1.

27.

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

Stoddard JL, Niemela JE, Fleisher TA, Rosenzweig SD.

Front Immunol. 2014 Nov 3;5:531. doi: 10.3389/fimmu.2014.00531. eCollection 2014.

28.

Redistribution, hyperproliferation, activation of natural killer cells and CD8 T cells, and cytokine production during first-in-human clinical trial of recombinant human interleukin-15 in patients with cancer.

Conlon KC, Lugli E, Welles HC, Rosenberg SA, Fojo AT, Morris JC, Fleisher TA, Dubois SP, Perera LP, Stewart DM, Goldman CK, Bryant BR, Decker JM, Chen J, Worthy TA, Figg WD Sr, Peer CJ, Sneller MC, Lane HC, Yovandich JL, Creekmore SP, Roederer M, Waldmann TA.

J Clin Oncol. 2015 Jan 1;33(1):74-82. doi: 10.1200/JCO.2014.57.3329. Epub 2014 Nov 17.

29.

Autosomal Recessive Phosphoglucomutase 3 (PGM3) Mutations Link Glycosylation Defects to Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment.

Fleisher TA.

Pediatrics. 2014 Nov;134 Suppl 3:S181-2. doi: 10.1542/peds.2014-1817FFFF. No abstract available.

30.

Invasive pneumococcal disease in children can reveal a primary immunodeficiency.

Fleisher TA.

Pediatrics. 2014 Nov;134 Suppl 3:S180-1. doi: 10.1542/peds.2014-1817DDDD. No abstract available.

31.

Safety, efficacy, and pharmacokinetics/pharmacodynamics of daclizumab (anti-CD25) in patients with adult T-cell leukemia/lymphoma.

Berkowitz JL, Janik JE, Stewart DM, Jaffe ES, Stetler-Stevenson M, Shih JH, Fleisher TA, Turner M, Urquhart NE, Wharfe GH, Figg WD, Peer CJ, Goldman CK, Waldmann TA, Morris JC.

Clin Immunol. 2014 Dec;155(2):176-87. doi: 10.1016/j.clim.2014.09.012. Epub 2014 Sep 28.

32.

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R.

Nat Genet. 2014 Oct;46(10):1140-6. doi: 10.1038/ng.3089. Epub 2014 Sep 14.

33.

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.

Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G.

Science. 2014 Sep 26;345(6204):1623-1627. doi: 10.1126/science.1255904. Epub 2014 Sep 11.

34.

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ.

N Engl J Med. 2014 Jul 31;371(5):434-46. doi: 10.1056/NEJMoa1401177.

35.

Novel assessment tools to evaluate clinical and laboratory responses in a subset of patients enrolled in the Rituximab in Myositis trial.

Rider LG, Yip AL, Horkayne-Szakaly I, Volochayev R, Shrader JA, Turner ML, Kong HH, Jain MS, Jansen AV, Oddis CV, Fleisher TA, Miller FW.

Clin Exp Rheumatol. 2014 Sep-Oct;32(5):689-96. Epub 2014 Jul 28.

36.

Activated STING in a vascular and pulmonary syndrome.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R.

N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16.

37.

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

Marciano BE, Huang CY, Joshi G, Rezaei N, Carvalho BC, Allwood Z, Ikinciogullari A, Reda SM, Gennery A, Thon V, Espinosa-Rosales F, Al-Herz W, Porras O, Shcherbina A, Szaflarska A, Kiliç Ş, Franco JL, Gómez Raccio AC, Roxo P Jr, Esteves I, Galal N, Grumach AS, Al-Tamemi S, Yildiran A, Orellana JC, Yamada M, Morio T, Liberatore D, Ohtsuka Y, Lau YL, Nishikomori R, Torres-Lozano C, Mazzucchelli JT, Vilela MM, Tavares FS, Cunha L, Pinto JA, Espinosa-Padilla SE, Hernandez-Nieto L, Elfeky RA, Ariga T, Toshio H, Dogu F, Cipe F, Formankova R, Nuñez-Nuñez ME, Bezrodnik L, Marques JG, Pereira MI, Listello V, Slatter MA, Nademi Z, Kowalczyk D, Fleisher TA, Davies G, Neven B, Rosenzweig SD.

J Allergy Clin Immunol. 2014 Apr;133(4):1134-41. doi: 10.1016/j.jaci.2014.02.028. Erratum in: J Allergy Clin Immunol. 2014 Jul;134(1):244.

38.

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts.

Medical Advisory Committee of the Immune Deficiency Foundation, Shearer WT, Fleisher TA, Buckley RH, Ballas Z, Ballow M, Blaese RM, Bonilla FA, Conley ME, Cunningham-Rundles C, Filipovich AH, Fuleihan R, Gelfand EW, Hernandez-Trujillo V, Holland SM, Hong R, Lederman HM, Malech HL, Miles S, Notarangelo LD, Ochs HD, Orange JS, Puck JM, Routes JM, Stiehm ER, Sullivan K, Torgerson T, Winkelstein J.

J Allergy Clin Immunol. 2014 Apr;133(4):961-6. doi: 10.1016/j.jaci.2013.11.043. Epub 2014 Feb 28. Review.

39.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

40.

A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.

McDermott DH, Liu Q, Velez D, Lopez L, Anaya-O'Brien S, Ulrick J, Kwatemaa N, Starling J, Fleisher TA, Priel DA, Merideth MA, Giuntoli RL, Evbuomwan MO, Littel P, Marquesen MM, Hilligoss D, DeCastro R, Grimes GJ, Hwang ST, Pittaluga S, Calvo KR, Stratton P, Cowen EW, Kuhns DB, Malech HL, Murphy PM.

Blood. 2014 Apr 10;123(15):2308-16. doi: 10.1182/blood-2013-09-527226. Epub 2014 Feb 12.

41.

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ.

Blood. 2014 Mar 27;123(13):1989-99. doi: 10.1182/blood-2013-10-535393. Epub 2014 Jan 7.

42.

Integrating pharmacogenetic information and clinical decision support into the electronic health record.

Goldspiel BR, Flegel WA, DiPatrizio G, Sissung T, Adams SD, Penzak SR, Biesecker LG, Fleisher TA, Patel JJ, Herion D, Figg WD, Lertora JJ, McKeeby JW.

J Am Med Inform Assoc. 2014 May-Jun;21(3):522-8. doi: 10.1136/amiajnl-2013-001873. Epub 2013 Dec 3.

43.

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ.

J Allergy Clin Immunol. 2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28.

44.

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.

Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G.

Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771. Epub 2013 Oct 28.

45.

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants.

J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15.

46.

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis.

Rudman Spergel A, Walkovich K, Price S, Niemela JE, Wright D, Fleisher TA, Rao VK.

Pediatrics. 2013 Nov;132(5):e1440-4. doi: 10.1542/peds.2012-2748. Epub 2013 Oct 7.

47.

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH.

J Clin Immunol. 2013 Oct;33(7):1156-64. doi: 10.1007/s10875-013-9917-y. Epub 2013 Jul 2.

48.

B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.

Matharu K, Zarember KA, Marciano BE, Kuhns DB, Spalding C, Garofalo M, Dimaggio T, Estwick T, Huang CY, Fink D, Priel DL, Fleisher TA, Holland SM, Malech HL, Gallin JI.

Clin Immunol. 2013 Aug;148(2):258-64. doi: 10.1016/j.clim.2013.05.007. Epub 2013 May 22.

49.

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans.

Kuehn HS, Niemela JE, Rangel-Santos A, Zhang M, Pittaluga S, Stoddard JL, Hussey AA, Evbuomwan MO, Priel DA, Kuhns DB, Park CL, Fleisher TA, Uzel G, Oliveira JB.

Blood. 2013 Apr 18;121(16):3117-25. doi: 10.1182/blood-2012-12-469544. Epub 2013 Feb 21.

50.

Laboratory evaluation for T-cell dysfunction.

Rosenzweig SD, Fleisher TA.

J Allergy Clin Immunol. 2013 Feb;131(2):622-3.e1-4. doi: 10.1016/j.jaci.2012.11.018. No abstract available.

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