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Items: 1 to 50 of 360

1.

Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report.

Kim D, Kobayashi T, Voisin B, Jo JH, Sakamoto K, Jin SP, Kelly M, Pasieka HB, Naff JL, Meyerle JH, Ikpeama ID, Fahle GA, Davis FP, Rosenzweig SD, Alejo JC, Pittaluga S, Kong HH, Freeman AF, Nagao K.

Nat Med. 2020 Jan 20. doi: 10.1038/s41591-019-0733-7. [Epub ahead of print]

PMID:
31959990
2.

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J.

Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11.

PMID:
31827281
3.

Defining a new immune deficiency syndrome: MAN2B2-CDG.

Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E.

J Allergy Clin Immunol. 2019 Nov 24. pii: S0091-6749(19)31598-2. doi: 10.1016/j.jaci.2019.11.016. [Epub ahead of print] No abstract available.

PMID:
31775018
4.

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20.

Schwartz DM, Blackstone SA, Sampaio-Moura N, Rosenzweig S, Burma AM, Stone D, Hoffmann P, Jones A, Romeo T, Barron KS, Waldman MA, Aksentijevich I, Kastner DL, Milner JD, Ombrello AK.

Ann Rheum Dis. 2019 Nov 25. pii: annrheumdis-2019-215918. doi: 10.1136/annrheumdis-2019-215918. [Epub ahead of print] No abstract available.

PMID:
31767699
5.

Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib.

Sabbagh S, Almeida de Jesus A, Hwang S, Kuehn HS, Kim H, Jung L, Carrasco R, Rosenzweig S, Goldbach-Mansky R, Rider LG.

Brain. 2019 Nov 1;142(11):e59. doi: 10.1093/brain/awz293. No abstract available.

6.

Lymphocyte reference intervals in the era of newborn screening.

Fleisher TA, Rosenzweig SD.

J Allergy Clin Immunol. 2019 Dec;144(6):1516-1517. doi: 10.1016/j.jaci.2019.09.022. Epub 2019 Oct 7. No abstract available.

PMID:
31600546
7.

White Matter Stroke Induces a Unique Oligo-Astrocyte Niche That Inhibits Recovery.

Sozmen EG, DiTullio DJ, Rosenzweig S, Hinman JD, Bridges SP, Marin MA, Kawaguchi R, Coppola G, Carmichael ST.

J Neurosci. 2019 Nov 20;39(47):9343-9359. doi: 10.1523/JNEUROSCI.0103-19.2019. Epub 2019 Oct 7.

PMID:
31591156
8.

The peroxidase PRDX1 inhibits the activated phenotype in mammary fibroblasts through regulating c-Jun N-terminal kinases.

Jezierska-Drutel A, Attaran S, Hopkins BL, Skoko JJ, Rosenzweig SA, Neumann CA.

BMC Cancer. 2019 Aug 16;19(1):812. doi: 10.1186/s12885-019-6031-4.

9.

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.

McDermott DH, Heusinkveld LE, Zein WM, Sen HN, Marquesen MM, Parta M, Rosenzweig SD, Fahle GA, Keller MD, Wiley HE, Murphy PM.

Version 2. F1000Res. 2019 Jan 2 [revised 2019 Jan 1];8:2. doi: 10.12688/f1000research.16825.2. eCollection 2019.

10.

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Zimmerman O, Olbrich P, Freeman AF, Rosen LB, Uzel G, Zerbe CS, Rosenzweig SD, Kuehn HS, Holmes KL, Stephany D, Ding L, Sampaio EP, Hsu AP, Holland SM.

Front Immunol. 2019 Jul 10;10:1433. doi: 10.3389/fimmu.2019.01433. eCollection 2019.

11.

Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).

Lisco A, Wong CS, Price S, Ye P, Niemela J, Anderson M, Richards E, Manion M, Mystakelis H, Similuk M, Lo B, Stoddard J, Rosenzweig S, Vanpouille C, Rupert A, Maric I, Perez-Diez A, Parenti D, Burbelo PD, Rao VK, Sereti I.

Front Immunol. 2019 Jul 4;10:1552. doi: 10.3389/fimmu.2019.01552. eCollection 2019.

12.

Skewed Lymphocyte Subpopulations and Associated Phenotypes in Patients with Mastocytosis.

Kulinski JM, Eisch R, Young ML, Rampertaap S, Stoddard J, Monsale J, Romito K, Lyons JJ, Rosenzweig SD, Metcalfe DD, Komarow HD.

J Allergy Clin Immunol Pract. 2020 Jan;8(1):292-301.e2. doi: 10.1016/j.jaip.2019.07.004. Epub 2019 Jul 15.

PMID:
31319217
13.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED.

J Exp Med. 2019 Sep 2;216(9):1986-1998. doi: 10.1084/jem.20190344. Epub 2019 Jun 24.

14.

Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS).

Lisco A, Wong CS, Price S, Ye P, Niemela J, Anderson M, Richards E, Manion M, Mystakelis H, Similuk M, Lo B, Stoddard J, Rosenzweig S, Vanpouille C, Rupert A, Maric I, Perez-Diez A, Parenti D, Burbelo PD, Rao VK, Sereti I.

Front Immunol. 2019 May 29;10:1193. doi: 10.3389/fimmu.2019.01193. eCollection 2019. Erratum in: Front Immunol. 2019 Jul 04;10:1552.

15.

PI3K pathway defects leading to immunodeficiency and immune dysregulation.

Nunes-Santos CJ, Uzel G, Rosenzweig SD.

J Allergy Clin Immunol. 2019 May;143(5):1676-1687. doi: 10.1016/j.jaci.2019.03.017. Review.

PMID:
31060715
16.

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices.

Daley SR, Koay HF, Dobbs K, Bosticardo M, Wirasinha RC, Pala F, Castagnoli R, Rowe JH, Ott de Bruin LM, Keles S, Lee YN, Somech R, Holland SM, Delmonte OM, Draper D, Maxwell S, Niemela J, Stoddard J, Rosenzweig SD, Poliani PL, Capo V, Villa A, Godfrey DI, Notarangelo LD.

J Allergy Clin Immunol. 2019 Jul;144(1):333-336. doi: 10.1016/j.jaci.2019.03.022. Epub 2019 Apr 30. No abstract available.

17.

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening.

Purswani P, Meehan CA, Kuehn HS, Chang Y, Dasso JF, Meyer AK, Ujhazi B, Csomos K, Lindsay D, Alberdi T, Joychan S, Trotter J, Duff C, Ellison M, Bleesing J, Kumanovics A, Comeau AM, Hale JE, Notarangelo LD, Torgersen TR, Ochs HD, Sriaroon P, Oshrine B, Petrovic A, Rosenzweig SD, Leiding JW, Walter JE.

Front Pediatr. 2019 Apr 5;7:55. doi: 10.3389/fped.2019.00055. eCollection 2019.

18.

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, Boutboul D, Latour S, Barlogis V, Galambrun C, Stray-Pedersen A, Erichsen HC, Marsh RA.

J Allergy Clin Immunol. 2019 Jul;144(1):339-342. doi: 10.1016/j.jaci.2019.03.025. Epub 2019 Apr 6. No abstract available.

PMID:
30965037
19.

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

Oda H, Beck DB, Kuehn HS, Sampaio Moura N, Hoffmann P, Ibarra M, Stoddard J, Tsai WL, Gutierrez-Cruz G, Gadina M, Rosenzweig SD, Kastner DL, Notarangelo LD, Aksentijevich I.

Front Immunol. 2019 Mar 18;10:479. doi: 10.3389/fimmu.2019.00479. eCollection 2019.

20.

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.

Karanovic D, Michelow IC, Hayward AR, DeRavin SS, Delmonte OM, Grigg ME, Dobbs AK, Niemela JE, Stoddard J, Alhinai Z, Rybak N, Hernandez N, Pittaluga S, Rosenzweig SD, Uzel G, Notarangelo LD.

Front Immunol. 2019 Feb 14;10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019. Review.

21.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD.

J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. No abstract available.

22.

ENLIVE: An Efficient Nonlinear Method for Calibrationless and Robust Parallel Imaging.

Holme HCM, Rosenzweig S, Ong F, Wilke RN, Lustig M, Uecker M.

Sci Rep. 2019 Feb 28;9(1):3034. doi: 10.1038/s41598-019-39888-7.

23.

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M.

Front Immunol. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023. eCollection 2019.

24.

An ultra-stable redox-controlled self-assembling polypeptide nanotube for targeted imaging and therapy in cancer.

Asampille G, Verma BK, Swain M, Shettar A, Rosenzweig SA, Kondaiah P, Atreya HS.

J Nanobiotechnology. 2018 Dec 8;16(1):101. doi: 10.1186/s12951-018-0427-1.

25.

Early stage lung cancer survival after wedge resection and stereotactic body radiation.

Taioli E, Lieberman-Cribbin W, Rosenzweig S, van Gerwen MAG, Liu B, Flores RM.

J Thorac Dis. 2018 Oct;10(10):5702-5713. doi: 10.21037/jtd.2018.09.140.

26.

Simple auto-calibrated gradient delay estimation from few spokes using Radial Intersections (RING).

Rosenzweig S, Holme HCM, Uecker M.

Magn Reson Med. 2019 Mar;81(3):1898-1906. doi: 10.1002/mrm.27506. Epub 2018 Nov 4.

PMID:
30489652
27.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.

Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.

28.

Frequency-modulated SSFP with radial sampling and subspace reconstruction: A time-efficient alternative to phase-cycled bSSFP.

Roeloffs V, Rosenzweig S, Holme HCM, Uecker M, Frahm J.

Magn Reson Med. 2019 Mar;81(3):1566-1579. doi: 10.1002/mrm.27505. Epub 2018 Oct 25.

PMID:
30357904
29.

Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.

Jhamnani RD, Nunes-Santos CJ, Bergerson J, Rosenzweig SD.

Front Immunol. 2018 Sep 26;9:2172. doi: 10.3389/fimmu.2018.02172. eCollection 2018. Review.

30.

Vimentin and Non-Muscle Myosin IIA are Members of the Neural Precursor Cell Expressed Developmentally Down-Regulated 9 (NEDD9) Interactome in Head and Neck Squamous Cell Carcinoma Cells.

Semelakova M, Grauzam S, Betadthunga P, Tiedeken J, Coaxum S, Neskey DM, Rosenzweig SA.

Transl Oncol. 2019 Jan;12(1):49-61. doi: 10.1016/j.tranon.2018.09.006. Epub 2018 Sep 26.

31.

Old vaccines, new diseases: when BCG meets SPPL2a.

Rosenzweig SD.

Nat Immunol. 2018 Sep;19(9):906-907. doi: 10.1038/s41590-018-0193-0. No abstract available.

PMID:
30127437
32.

Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension.

Etzion O, Takyar V, Novack V, Gharib AM, Canales R, Adebogun A, Matsumoto E, Eccleston JL, Kleiner DE, Rosenzweig SD, Gunay-Aygun M, Uzel G, Fuss I, Childs R, Holland SM, Levy EB, Liang TJ, Heller T, Koh C.

Hepatol Commun. 2018 Jul 16;2(8):919-928. doi: 10.1002/hep4.1198. eCollection 2018 Aug.

33.

Climate Change Impacts on Yields and Soil Carbon in Row Crop Dryland Agriculture.

Robertson AD, Zhang Y, Sherrod LA, Rosenzweig ST, Ma L, Ahuja L, Schipanski ME.

J Environ Qual. 2018 Jul;47(4):684-694. doi: 10.2134/jeq2017.08.0309.

PMID:
30025064
34.

Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Nunes-Santos CJ, Rosenzweig SD.

Front Immunol. 2018 Jun 22;9:1423. doi: 10.3389/fimmu.2018.01423. eCollection 2018. Review.

35.

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.

36.

NEDD9 stimulated MMP9 secretion is required for invadopodia formation in oral squamous cell carcinoma.

Grauzam S, Brock AM, Holmes CO, Tiedeken JA, Boniface SG, Pierson BN, Patterson DG, Coaxum SD, Neskey DM, Rosenzweig SA.

Oncotarget. 2018 May 22;9(39):25503-25516. doi: 10.18632/oncotarget.25347. eCollection 2018 May 22.

37.

Tumor Elastography and Its Association with Collagen and the Tumor Microenvironment.

Riegler J, Labyed Y, Rosenzweig S, Javinal V, Castiglioni A, Dominguez CX, Long JE, Li Q, Sandoval W, Junttila MR, Turley SJ, Schartner J, Carano RAD.

Clin Cancer Res. 2018 Sep 15;24(18):4455-4467. doi: 10.1158/1078-0432.CCR-17-3262. Epub 2018 May 24.

38.

Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Itan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Bleesing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 May;38(4):540-541. doi: 10.1007/s10875-018-0510-2.

PMID:
29781065
39.

Use of Genetic Testing for Primary Immunodeficiency Patients.

Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS.

J Clin Immunol. 2018 Apr;38(3):320-329. doi: 10.1007/s10875-018-0489-8. Epub 2018 Apr 19. Review. Erratum in: J Clin Immunol. 2018 May 21;:.

PMID:
29675737
40.

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.

Cytlak U, Resteu A, Bogaert D, Kuehn HS, Altmann T, Gennery A, Jackson G, Kumanovics A, Voelkerding KV, Prader S, Dullaers M, Reichenbach J, Hill H, Haerynck F, Rosenzweig SD, Collin M, Bigley V.

Nat Commun. 2018 Mar 27;9(1):1239. doi: 10.1038/s41467-018-02977-8.

41.

Acquired Resistance to Drugs Targeting Tyrosine Kinases.

Rosenzweig SA.

Adv Cancer Res. 2018;138:71-98. doi: 10.1016/bs.acr.2018.02.003. Epub 2018 Mar 2. Review.

42.

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I.

Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22.

43.

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.

Zimmerman O, Rösler B, Zerbe CS, Rosen LB, Hsu AP, Uzel G, Freeman AF, Sampaio EP, Rosenzweig SD, Kuehn HS, Kim T, Brooks KM, Kumar P, Wang X, Netea MG, van de Veerdonk FL, Holland SM.

Open Forum Infect Dis. 2017 Sep 22;4(4):ofx202. doi: 10.1093/ofid/ofx202. eCollection 2017 Fall.

44.

Decreased lymphocytes and increased risk for infection are common in endogenous pediatric Cushing syndrome.

Tatsi C, Boden R, Sinaii N, Keil M, Lyssikatos C, Belyavskaya E, Rosenzweig SD, Stratakis CA, Lodish MB.

Pediatr Res. 2018 Feb;83(2):431-437. doi: 10.1038/pr.2017.278. Epub 2017 Dec 6.

45.

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Vargas-Hernández A, 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.

J Allergy Clin Immunol. 2018 Jun;141(6):2142-2155.e5. doi: 10.1016/j.jaci.2017.08.040. Epub 2017 Oct 27.

46.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD.

Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b.

PMID:
29074947
47.

An update on gain-of-function mutations in primary immunodeficiency diseases.

Jhamnani RD, Rosenzweig SD.

Curr Opin Allergy Clin Immunol. 2017 Dec;17(6):391-397. doi: 10.1097/ACI.0000000000000401. Review.

PMID:
29040208
48.

Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Rao VK, Webster S, Dalm VASH, Šedivá A, van Hagen PM, Holland S, Rosenzweig SD, Christ AD, Sloth B, Cabanski M, Joshi AD, de Buck S, Doucet J, Guerini D, Kalis C, Pylvaenaeinen I, Soldermann N, Kashyap A, Uzel G, Lenardo MJ, Patel DD, Lucas CL, Burkhart C.

Blood. 2017 Nov 23;130(21):2307-2316. doi: 10.1182/blood-2017-08-801191. Epub 2017 Sep 29.

49.

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

Bogaert DJ, Kuehn HS, Bonroy C, Calvo KR, Dehoorne J, Vanlander AV, De Bruyne M, Cytlak U, Bigley V, De Baets F, De Baere E, Rosenzweig SD, Haerynck F, Dullaers M.

J Allergy Clin Immunol. 2018 Jan;141(1):432-435.e7. doi: 10.1016/j.jaci.2017.08.019. Epub 2017 Sep 18. No abstract available.

50.

Impact of enzalutamide and its main metabolite N-desmethyl enzalutamide on pharmacokinetically important drug metabolizing enzymes and drug transporters.

Weiss J, Kocher J, Mueller C, Rosenzweig S, Theile D.

Biopharm Drug Dispos. 2017 Dec;38(9):517-525. doi: 10.1002/bdd.2103. Epub 2017 Oct 30.

PMID:
28865089

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