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Items: 1 to 50 of 103

1.

Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency.

Parsons K, Cipriano SD, Rosen LB, Browne SK, Walter JE, Stone BL, Keeshin S, Chen K.

Front Pediatr. 2019 Mar 19;7:61. doi: 10.3389/fped.2019.00061. eCollection 2019.

2.

Prevalence and determinants of exercise-induced left ventricular dysfunction in patients with coronary artery disease.

Honegger U, Walter JE, Mueller D, Puelacher C, Schaerli N, Twerenbold R, Badertscher P, Boeddinghaus J, Nestelberger T, du Fay de Lavallaz J, Wussler D, Pfister O, Jeger R, Kaiser C, Wild D, Schmidt-Trucksäss A, Reichlin T, Mueller C.

Eur J Clin Invest. 2019 Mar 29:e13112. doi: 10.1111/eci.13112. [Epub ahead of print]

PMID:
30925205
3.

Outcomes and treatment strategies for autoimmunity and hyperinflammation in patients with RAG deficiency.

Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou E, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE.

J Allergy Clin Immunol Pract. 2019 Mar 12. pii: S2213-2198(19)30260-0. doi: 10.1016/j.jaip.2019.02.038. [Epub ahead of print]

4.

Persisting new nodules in incidence rounds of the NELSON CT lung cancer screening study.

Walter JE, Heuvelmans MA, Ten Haaf K, Vliegenthart R, van der Aalst CM, Yousaf-Khan U, van Ooijen PMA, Nackaerts K, Groen HJM, De Bock GH, de Koning HJ, Oudkerk M.

Thorax. 2019 Mar;74(3):247-253. doi: 10.1136/thoraxjnl-2018-212152. Epub 2018 Dec 27.

PMID:
30591535
5.

A comparison of the use of mesh to native tissue in the management of vaginal vault prolapse.

Walter JE.

Best Pract Res Clin Obstet Gynaecol. 2019 Jan;54:73-88. doi: 10.1016/j.bpobgyn.2018.11.006. Epub 2018 Nov 20. Review.

PMID:
30580956
6.

Daytime variation of perioperative myocardial injury in non-cardiac surgery and effect on outcome.

du Fay de Lavallaz J, Puelacher C, Lurati Buse G, Bolliger D, Germanier D, Hidvegi R, Walter JE, Twerenbold R, Strebel I, Badertscher P, Sazgary L, Lampart A, Espinola J, Kindler C, Hammerer-Lercher A, Thambipillai S, Guerke L, Rentsch K, Buser A, Gualandro D, Jakob M, Mueller C; BASEL-PMI Investigators.

Heart. 2018 Dec 12. pii: heartjnl-2018-313876. doi: 10.1136/heartjnl-2018-313876. [Epub ahead of print]

PMID:
30541757
7.

Relationship between the number of new nodules and lung cancer probability in incidence screening rounds of CT lung cancer screening: The NELSON study.

Walter JE, Heuvelmans MA, de Bock GH, Yousaf-Khan U, Groen HJM, van der Aalst CM, Nackaerts K, van Ooijen PMA, de Koning HJ, Vliegenthart R, Oudkerk M.

Lung Cancer. 2018 Nov;125:103-108. doi: 10.1016/j.lungcan.2018.05.007. Epub 2018 May 14.

8.

Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.

Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E.

J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21.

PMID:
30248356
9.

Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis.

Otani IM, Carroll RW, Yager P, Kroshinsky D, Murphy S, Hornick JL, Akin C, Castells M, Walter JE.

Clin Case Rep. 2018 Jul 31;6(9):1834-1840. doi: 10.1002/ccr3.1607. eCollection 2018 Sep.

10.

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency.

Henrickson SE, Walter JE, Quinn C, Kanakry JA, Bardakjian T, Dimitrova D, Ujhazi B, Csomos K, Bosticardo M, Dobbs K, Nasrallah M, Notarangelo LD, Holland SM, Fadugba O.

J Clin Immunol. 2018 Aug;38(6):642-645. doi: 10.1007/s10875-018-0538-3. Epub 2018 Aug 30. No abstract available.

PMID:
30159811
11.

Droplet digital PCR of serum miR-499, miR-21 and miR-208a for the detection of functionally relevant coronary artery disease.

Hortmann M, Walter JE, Benning L, Follo M, Mayr RM, Honegger U, Robinson S, Stallmann D, Duerschmied D, Twerenbold R, Badertscher P, du Fay de Lavallaz J, Puelacher C, Bode C, Ahrens I, Mueller C.

Int J Cardiol. 2019 Jan 15;275:129-135. doi: 10.1016/j.ijcard.2018.08.031. Epub 2018 Aug 14.

PMID:
30126654
12.

Direct Comparison of Cardiac Troponin T and I Using a Uniform and a Sex-Specific Approach in the Detection of Functionally Relevant Coronary Artery Disease.

Mueller D, Puelacher C, Honegger U, Walter JE, Badertscher P, Schaerli N, Strebel I, Twerenbold R, Boeddinghaus J, Nestelberger T, Hollenstein C, du Fay de Lavallaz J, Jeger R, Kaiser C, Wild D, Rentsch K, Buser A, Zellweger M, Reichlin T, Mueller C.

Clin Chem. 2018 Nov;64(11):1596-1606. doi: 10.1373/clinchem.2018.286971. Epub 2018 Aug 10.

PMID:
30097496
13.

How long do we have to treat overactive bladder syndrome (OAB)? A questionnaire survey of Canadian urologists and gynecologists.

Przydacz M, Campeau L, Walter JE, Corcos J.

Can Urol Assoc J. 2018 May 14. doi: 10.5489/cuaj.5032. [Epub ahead of print]

14.

New Subsolid Pulmonary Nodules in Lung Cancer Screening: The NELSON Trial.

Walter JE, Heuvelmans MA, Yousaf-Khan U, Dorrius MD, Thunnissen E, Schermann A, Groen HJM, van der Aalst CM, Nackaerts K, Vliegenthart R, de Koning HJ, Oudkerk M.

J Thorac Oncol. 2018 Sep;13(9):1410-1414. doi: 10.1016/j.jtho.2018.05.006. Epub 2018 Jul 12.

PMID:
29775805
15.

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN.

J Allergy Clin Immunol. 2019 Feb;143(2):726-735. doi: 10.1016/j.jaci.2018.04.027. Epub 2018 Jun 18.

PMID:
29772310
16.

B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation.

Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, Kohn DB, Puck JM, Cowan MJ, Griffith LM, Haddad E, O'Reilly RJ, Notarangelo LD, Pai SY.

Blood. 2018 Jun 28;131(26):2967-2977. doi: 10.1182/blood-2017-10-809822. Epub 2018 May 4.

PMID:
29728406
17.

No 358-Traitement du syndrome génito-urinaire de la ménopause et de l'incontinence à l'effort par laser vaginal.

Walter JE, Larochelle A.

J Obstet Gynaecol Can. 2018 Apr;40(4):512-521. doi: 10.1016/j.jogc.2018.02.016. No abstract available.

PMID:
29680081
18.

No. 358-Intravaginal Laser for Genitourinary Syndrome of Menopause and Stress Urinary Incontinence.

Walter JE, Larochelle A.

J Obstet Gynaecol Can. 2018 Apr;40(4):503-511. doi: 10.1016/j.jogc.2017.11.040.

PMID:
29680080
19.

Characteristics of new solid nodules detected in incidence screening rounds of low-dose CT lung cancer screening: the NELSON study.

Walter JE, Heuvelmans MA, Bock GH, Yousaf-Khan U, Groen HJM, Aalst CMV, Nackaerts K, Ooijen PMAV, Koning HJ, Vliegenthart R, Oudkerk M.

Thorax. 2018 Aug;73(8):741-747. doi: 10.1136/thoraxjnl-2017-211376. Epub 2018 Apr 16.

PMID:
29661918
20.

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B; NIHR BioResource–Rare Diseases Consortium, Thaventhiran J, Walter JE, Savic S.

J Allergy Clin Immunol. 2018 Jun;141(6):2303-2306. doi: 10.1016/j.jaci.2018.02.007. Epub 2018 Mar 2. No abstract available.

21.

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.

Goda V, Malik A, Kalmar T, Maroti Z, Patel B, Ujhazi B, Csomos K, Hale JE, Chen K, Bleesing J, Palma P, Cancrini C, Comeau AM, Krivan G, Walter JE.

J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1769-1771.e2. doi: 10.1016/j.jaip.2018.01.015. Epub 2018 Feb 2. No abstract available.

PMID:
29410113
22.

Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets.

Farmer JR, Ong MS, Barmettler S, Yonker LM, Fuleihan R, Sullivan KE, Cunningham-Rundles C; USIDNET Consortium, Walter JE.

Front Immunol. 2018 Jan 9;8:1740. doi: 10.3389/fimmu.2017.01740. eCollection 2017.

23.

Relationship between nodule count and lung cancer probability in baseline CT lung cancer screening: The NELSON study.

Heuvelmans MA, Walter JE, Peters RB, Bock GH, Yousaf-Khan U, Aalst CMV, Groen HJM, Nackaerts K, Ooijen PMV, Koning HJ, Oudkerk M, Vliegenthart R.

Lung Cancer. 2017 Nov;113:45-50. doi: 10.1016/j.lungcan.2017.08.023. Epub 2017 Sep 1.

24.

RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE, Miano M.

Clin Immunol. 2018 Feb;187:102-103. doi: 10.1016/j.clim.2017.10.012. Epub 2017 Nov 20. No abstract available.

25.

Management of baseline and new sub-solid nodules in CT lung cancer screening.

Heuvelmans MA, Walter JE, Oudkerk M.

Expert Rev Respir Med. 2018 Jan;12(1):1-3. doi: 10.1080/17476348.2018.1398087. Epub 2017 Nov 1. No abstract available.

PMID:
29082801
26.

No 351-Interventions de treillis transvaginales visant le prolapsus des organes pelviens.

Larouche M, Geoffrion R, Walter JE.

J Obstet Gynaecol Can. 2017 Nov;39(11):1098-1112. doi: 10.1016/j.jogc.2017.08.023. No abstract available.

PMID:
29080724
27.

No. 351-Transvaginal Mesh Procedures for Pelvic Organ Prolapse.

Larouche M, Geoffrion R, Walter JE.

J Obstet Gynaecol Can. 2017 Nov;39(11):1085-1097. doi: 10.1016/j.jogc.2017.05.006.

PMID:
29080723
28.

Disagreement of diameter and volume measurements for pulmonary nodule size estimation in CT lung cancer screening.

Heuvelmans MA, Walter JE, Vliegenthart R, van Ooijen PMA, De Bock GH, de Koning HJ, Oudkerk M.

Thorax. 2018 Aug;73(8):779-781. doi: 10.1136/thoraxjnl-2017-210770. Epub 2017 Oct 22.

PMID:
29056601
29.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017.

30.

Prospective Validation of a Biomarker-Based Rule Out Strategy for Functionally Relevant Coronary Artery Disease.

Walter JE, Honegger U, Puelacher C, Mueller D, Wagener M, Schaerli N, Strebel I, Twerenbold R, Boeddinghaus J, Nestelberger T, Sazgary L, Marbot S, du Fay de Lavallaz J, Kaiser C, Osswald S, Wild D, Rentsch K, Zellweger M, Reichlin T, Mueller C.

Clin Chem. 2018 Feb;64(2):386-395. doi: 10.1373/clinchem.2017.277210. Epub 2017 Oct 16.

31.

Influence of lung nodule margin on volume- and diameter-based reader variability in CT lung cancer screening.

Han D, Heuvelmans MA, Vliegenthart R, Rook M, Dorrius MD, de Jonge GJ, Walter JE, van Ooijen PMA, de Koning HJ, Oudkerk M.

Br J Radiol. 2018 Oct;91(1090):20170405. doi: 10.1259/bjr.20170405. Epub 2017 Nov 8.

PMID:
28972803
32.

Abnormalities of T-cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.

Rowe JH, Stadinski BD, Henderson LA, Ott de Bruin L, Delmonte O, Lee YN, de la Morena MT, Goyal RK, Hayward A, Huang CH, Kanariou M, King A, Kuijpers TW, Soh JY, Neven B, Walter JE, Huseby ES, Notarangelo LD.

J Allergy Clin Immunol. 2017 Dec;140(6):1739-1743.e7. doi: 10.1016/j.jaci.2017.08.001. Epub 2017 Aug 31. No abstract available.

33.

Characterization of T and B cell repertoire diversity in patients with RAG deficiency.

Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD.

Sci Immunol. 2016 Dec 16;1(6). pii: eaah6109. doi: 10.1126/sciimmunol.aah6109. Epub 2016 Dec 16.

34.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 10;8:1244.

35.

Reduced numbers of circulating group 2 innate lymphoid cells in patients with common variable immunodeficiency.

Geier CB, Kraupp S, Bra D, Eibl MM, Farmer JR, Csomos K, Walter JE, Wolf HM.

Eur J Immunol. 2017 Nov;47(11):1959-1969. doi: 10.1002/eji.201746961. Epub 2017 Aug 14.

36.

Small pulmonary nodules in baseline and incidence screening rounds of low-dose CT lung cancer screening.

Walter JE, Heuvelmans MA, Oudkerk M.

Transl Lung Cancer Res. 2017 Feb;6(1):42-51. doi: 10.21037/tlcr.2016.11.05. Review.

37.

Gastrointestinal Manifestations in X-linked Agammaglobulinemia.

Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE.

J Clin Immunol. 2017 Apr;37(3):287-294. doi: 10.1007/s10875-017-0374-x. Epub 2017 Feb 24.

38.

Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies.

Walter JE, Farmer JR, Foldvari Z, Torgerson TR, Cooper MA.

J Allergy Clin Immunol Pract. 2016 Nov - Dec;4(6):1089-1100. doi: 10.1016/j.jaip.2016.08.004. Review.

39.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2016 Nov 1;126(11):4389. doi: 10.1172/JCI91162. Epub 2016 Nov 1. No abstract available.

40.

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Delmotte FR, Yamakawa N, Glauzy S, Chamberlain N, Kinnunen T, Menard L, Lavoie A, Walter JE, Notarangelo LD, Bruneau J, Al-Herz W, Kilic SS, Ochs HD, Cunningham-Rundles C, van der Burg M, Kuijpers TW, Kracker S, Kaneko H, Sekinaka Y, Nonoyama S, Durandy A, Meffre E.

J Clin Invest. 2016 Nov 1;126(11):4289-4302. doi: 10.1172/JCI84645. Epub 2016 Oct 4.

41.

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur DG, Krivan G, Notarangelo LD, Walter JE.

J Allergy Clin Immunol. 2017 Feb;139(2):690-692.e3. doi: 10.1016/j.jaci.2016.07.027. Epub 2016 Sep 5. No abstract available.

42.

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.

John T, Walter JE, Schuetz C, Chen K, Abraham RS, Bonfim C, Boyce TG, Joshi AY, Kang E, Carvalho BT, Mahajerin A, Nugent D, Puthenveetil G, Soni A, Su H, Cowan MJ, Notarangelo L, Buchbinder D.

J Clin Immunol. 2016 Oct;36(7):725-32. doi: 10.1007/s10875-016-0326-x. Epub 2016 Aug 18. Review.

43.

Occurrence and lung cancer probability of new solid nodules at incidence screening with low-dose CT: analysis of data from the randomised, controlled NELSON trial.

Walter JE, Heuvelmans MA, de Jong PA, Vliegenthart R, van Ooijen PMA, Peters RB, Ten Haaf K, Yousaf-Khan U, van der Aalst CM, de Bock GH, Mali W, Groen HJM, de Koning HJ, Oudkerk M.

Lancet Oncol. 2016 Jul;17(7):907-916. doi: 10.1016/S1470-2045(16)30069-9. Epub 2016 Jun 6.

PMID:
27283862
44.

Case 41-2015: A Boy with Immune and Liver Abnormalities.

Walter JE, Armanios M.

N Engl J Med. 2016 Jun 2;374(22):2193. doi: 10.1056/NEJMc1601156. No abstract available.

PMID:
27248644
45.

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

Felgentreff K, Baxi SN, Lee YN, Dobbs K, Henderson LA, Csomos K, Tsitsikov EN, Armanios M, Walter JE, Notarangelo LD.

J Clin Immunol. 2016 May;36(4):341-53. doi: 10.1007/s10875-016-0266-5. Epub 2016 Apr 11.

46.

Human RAG mutations: biochemistry and clinical implications.

Notarangelo LD, Kim MS, Walter JE, Lee YN.

Nat Rev Immunol. 2016 Apr;16(4):234-46. doi: 10.1038/nri.2016.28. Epub 2016 Mar 21. Review.

47.

Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis.

Henderson LA, Volpi S, Frugoni F, Janssen E, Kim S, Sundel RP, Dedeoglu F, Lo MS, Hazen MM, Beth Son M, Mathieu R, Zurakowski D, Yu N, Lebedeva T, Fuhlbrigge RC, Walter JE, Nee Lee Y, Nigrovic PA, Notarangelo LD.

Arthritis Rheumatol. 2016 Jul;68(7):1758-68. doi: 10.1002/art.39606.

48.

CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 41-2015. A 14-Year-Old Boy with Immune and Liver Abnormalities.

Walter JE, Armanios M, Shah U, Friedmann AM, Spitzer T, Sharatz SM, Hagen C.

N Engl J Med. 2015 Dec 31;373(27):2664-76. doi: 10.1056/NEJMcpc1408595. No abstract available.

PMID:
26716919
49.

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E.

Immunity. 2015 Nov 17;43(5):884-95. doi: 10.1016/j.immuni.2015.10.002. Epub 2015 Nov 3.

50.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12. Erratum in: J Clin Invest. 2016 Nov 1;126(11):4389.

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