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Items: 1 to 50 of 478

1.

Progressive severe B cell and NK cell deficiency with T cell senescence in adult CD40L deficiency.

Lougaris V, Lanzi G, Baronio M, Gazzurelli L, Vairo D, Lorenzini T, Badolato R, Notarangelo LD, Boschi A, Moratto D, Plebani A.

Clin Immunol. 2018 Feb 21. pii: S1521-6616(18)30048-2. doi: 10.1016/j.clim.2018.02.008. [Epub ahead of print] No abstract available.

PMID:
29476811
2.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL.

Cell. 2018 Feb 22;172(5):952-965.e18. doi: 10.1016/j.cell.2018.02.019.

PMID:
29474921
3.

Neutrophils drive type-I interferon production and autoantibodies in Wiskott-Aldrich syndrome.

Cervantes-Luevano KE, Caronni N, Castiello MC, Fontana E, Piperno G, Naseem A, Uva P, Bosticardo M, Marcovecchio GE, Notarangelo LD, Cicalese MP, Aiuti A, Villa A, Benvenuti F.

J Allergy Clin Immunol. 2018 Feb 12. pii: S0091-6749(18)30207-0. doi: 10.1016/j.jaci.2017.11.063. [Epub ahead of print]

PMID:
29447842
4.

Autonomous role of Wiskott-Aldrich Syndrome platelet deficiency in inducing autoimmunity and inflammation.

Sereni L, Castiello MC, Marangoni F, Anselmo A, di Silvestre D, Motta S, Draghici E, Mantero S, Thrasher AJ, Giliani S, Aiuti A, Mauri P, Notarangelo LD, Bosticardo M, Villa A.

J Allergy Clin Immunol. 2018 Feb 5. pii: S0091-6749(18)30201-X. doi: 10.1016/j.jaci.2017.12.1000. [Epub ahead of print]

PMID:
29421274
5.

Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.

Lanfranchi A, Lougaris V, Notarangelo LD, Soncini E, Comini M, Beghin A, Bolda F, Montanelli A, Imberti L, Porta F.

Clin Immunol. 2018 Feb 2. pii: S1521-6616(17)30896-3. doi: 10.1016/j.clim.2018.01.004. [Epub ahead of print]

PMID:
29355610
6.

Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT.

Smith AR, Rota IA, Maio S, Massaad MJ, Lund TC, Notarangelo LD, Holländer GA, Blazar BR.

Blood Adv. 2017 Oct 23;1(23):2083-2087. doi: 10.1182/bloodadvances.2017010926. eCollection 2017 Oct 24.

7.

Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.

Capo V, Castiello MC, Fontana E, Penna S, Bosticardo M, Draghici E, Poliani LP, Sergi Sergi L, Rigoni R, Cassani B, Zanussi M, Carrera P, Uva P, Dobbs K, Sacchetti N, Notarangelo LD, van Til NP, Wagemaker G, Villa A.

J Allergy Clin Immunol. 2017 Dec 11. pii: S0091-6749(17)31886-9. doi: 10.1016/j.jaci.2017.11.015. [Epub ahead of print]

PMID:
29241731
8.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2017 Dec 11. pii: S0091-6749(17)31893-6. doi: 10.1016/j.jaci.2017.10.041. [Epub ahead of print]

9.

Diagnostic value of cell bound and circulating neutrophil antibody detection in pediatric neutropenia.

Porretti L, Farruggia P, Colombo FS, Cattaneo A, Ghilardi R, Mirra N, Notarangelo LD, Martire B, Trombetta E, Milani S, Vener C, Rebulla P.

Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26904. Epub 2017 Dec 12.

PMID:
29230955
10.

Architecture of the human PI4KIIIα lipid kinase complex.

Lees JA, Zhang Y, Oh MS, Schauder CM, Yu X, Baskin JM, Dobbs K, Notarangelo LD, De Camilli P, Walz T, Reinisch KM.

Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):13720-13725. doi: 10.1073/pnas.1718471115. Epub 2017 Dec 11.

PMID:
29229838
11.

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. 2017 Nov 17. pii: S1521-6616(17)30752-0. doi: 10.1016/j.clim.2017.10.012. [Epub ahead of print] No abstract available.

PMID:
29104089
12.

Editorial: NK Cell Subsets in Health and Disease: New Developments.

Marcenaro E, Notarangelo LD, Orange JS, Vivier E.

Front Immunol. 2017 Oct 18;8:1363. doi: 10.3389/fimmu.2017.01363. eCollection 2017. No abstract available.

13.

Cord Blood Banking for Potential Future Transplantation.

Shearer WT, Lubin BH, Cairo MS, Notarangelo LD; SECTION ON HEMATOLOGY/ONCOLOGY; SECTION ON ALLERGY AND IMMUNOLOGY.

Pediatrics. 2017 Nov;140(5). pii: e20172695. doi: 10.1542/peds.2017-2695. Review.

PMID:
29084832
14.

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Al-Herz W, Massaad MJ, Chou J, Notarangelo LD, Geha RS.

Clin Immunol. 2017 Oct 16. pii: S1521-6616(17)30736-2. doi: 10.1016/j.clim.2017.10.006. [Epub ahead of print]

PMID:
29051008
15.

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.

16.

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC.

Blood. 2017 Dec 21;130(25):2718-2727. doi: 10.1182/blood-2017-05-781849. Epub 2017 Oct 11.

PMID:
29021228
17.

Hydroxyurea prescription, availability and use for children with sickle cell disease in Italy: Results of a National Multicenter survey.

Colombatti R, Palazzi G, Masera N, Notarangelo LD, Bonetti E, Samperi P, Barone A, Perrotta S, Facchini E, Miano M, Del Vecchio GC, Guerzoni ME, Corti P, Menzato F, Cesaro S, Casale M, Rigano P, Forni GL, Russo G, Sainati L; Italian Multicenter Study of Hydroxyurea in Sickle Cell Anemia Investigators.

Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26774. Epub 2017 Sep 4.

PMID:
28868627
18.

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, de Bruin LO, 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.

PMID:
28864286
19.

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.

Marquardsen FA, Baldin F, Wunderer F, Al-Herz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, Stepensky P, Meyer B, Jauch A, Bigler MB, Burgener AV, Higgins R, Navarini AA, Church JA, Chou J, Geha R, Notarangelo LD, Hess C, Berger CT, Bloch DB, Recher M.

J Clin Immunol. 2017 Oct;37(7):707-714. doi: 10.1007/s10875-017-0431-5. Epub 2017 Aug 21.

PMID:
28825155
20.

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.

21.

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, 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.

22.

Eltrombopag use in a patient with Wiskott-Aldrich syndrome.

Gabelli M, Marzollo A, Notarangelo LD, Basso G, Putti MC.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26692. Epub 2017 Jun 23.

PMID:
28643468
23.

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

Biggs CM, Kostjukovits S, Dobbs K, Laakso S, Klemetti P, Valta H, Taskinen M, Mäkitie O, Notarangelo LD.

J Clin Immunol. 2017 Aug;37(6):508-510. doi: 10.1007/s10875-017-0408-4. Epub 2017 Jun 19. No abstract available.

PMID:
28631025
24.

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

Errichiello E, Mustafa N, Vetro A, Notarangelo LD, de Jonge H, Rinaldi B, Vergani D, Giglio SR, Morbini P, Zuffardi O.

J Pathol. 2017 Sep;243(1):9-15. doi: 10.1002/path.4926. Epub 2017 Jul 25.

25.

Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry.

Farruggia P, Puccio G, Fioredda F, Lanza T, Porretti L, Ramenghi U, Barone A, Bonanomi S, Finocchi A, Ghilardi R, Ladogana S, Marra N, Martire B, Notarangelo LD, Onofrillo D, Pillon M, Russo G, Lo Valvo L, Serafinelli J, Tucci F, Zunica F, Verzegnassi F, Dufour C.

Am J Hematol. 2017 Sep;92(9):E546-E549. doi: 10.1002/ajh.24803. Epub 2017 Jul 7. No abstract available.

PMID:
28567966
26.

Jak3 deficiency blocks innate lymphoid cell development.

Robinette ML, Cella M, Telliez JB, Ulland TK, Barrow AD, Capuder K, Gilfillan S, Lin LL, Notarangelo LD, Colonna M.

Mucosal Immunol. 2018 Jan;11(1):50-60. doi: 10.1038/mi.2017.38. Epub 2017 May 17.

27.
28.

A three-dimensional model of human lung development and disease from pluripotent stem cells.

Chen YW, Huang SX, de Carvalho ALRT, Ho SH, Islam MN, Volpi S, Notarangelo LD, Ciancanelli M, Casanova JL, Bhattacharya J, Liang AF, Palermo LM, Porotto M, Moscona A, Snoeck HW.

Nat Cell Biol. 2017 May;19(5):542-549. doi: 10.1038/ncb3510. Epub 2017 Apr 24.

29.

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

Delmonte OM, Biggs CM, Hayward A, Comeau AM, Kuehn HS, Rosenzweig SD, Notarangelo LD.

J Clin Immunol. 2017 May;37(4):336-338. doi: 10.1007/s10875-017-0391-9. Epub 2017 Apr 4. No abstract available.

PMID:
28378256
30.

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party.

Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22.

PMID:
28331055
31.

Interleukin-12 and Interleukin-23 Blockade in Leukocyte Adhesion Deficiency Type 1.

Moutsopoulos NM, Zerbe CS, Wild T, Dutzan N, Brenchley L, DiPasquale G, Uzel G, Axelrod KC, Lisco A, Notarangelo LD, Hajishengallis G, Notarangelo LD, Holland SM.

N Engl J Med. 2017 Mar 23;376(12):1141-1146. doi: 10.1056/NEJMoa1612197.

32.

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia.

Kostjukovits S, Klemetti P, Valta H, Martelius T, Notarangelo LD, Seppänen M, Taskinen M, Mäkitie O.

J Allergy Clin Immunol. 2017 Aug;140(2):612-614.e5. doi: 10.1016/j.jaci.2017.02.016. Epub 2017 Mar 9. No abstract available.

PMID:
28284971
33.

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.

PMID:
28270363
34.

Diagnosis and management of newly diagnosed childhood autoimmune haemolytic anaemia. Recommendations from the Red Cell Study Group of the Paediatric Haemato-Oncology Italian Association.

Ladogana S, Maruzzi M, Samperi P, Perrotta S, Del Vecchio GC, Notarangelo LD, Farruggia P, Verzegnassi F, Masera N, Saracco P, Fasoli S, Miano M, Girelli G, Barcellini W, Zanella A, Russo G; AIHA Committee of the Italian Association of Paediatric Onco-haematology (AIEOP).

Blood Transfus. 2017 May;15(3):259-267. doi: 10.2450/2016.0072-16. Epub 2016 Dec 16.

35.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD.

J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.

36.

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.

PMID:
28139313
37.

Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.

Sauer AV, Hernandez RJ, Fumagalli F, Bianchi V, Poliani PL, Dallatomasina C, Riboni E, Politi LS, Tabucchi A, Carlucci F, Casiraghi M, Carriglio N, Cominelli M, Forcellini CA, Barzaghi F, Ferrua F, Minicucci F, Medaglini S, Leocani L, la Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A.

Sci Rep. 2017 Jan 11;7:40136. doi: 10.1038/srep40136.

38.

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.

PMID:
28068510
39.

Advances in clinical immunology in 2015.

Chinen J, Notarangelo LD, Shearer WT.

J Allergy Clin Immunol. 2016 Dec;138(6):1531-1540. doi: 10.1016/j.jaci.2016.10.005. Review.

40.

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL.

J Exp Med. 2016 Oct 17;213(11):2413-2435. Epub 2016 Sep 19.

41.

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.

42.

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS.

J Clin Invest. 2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17.

43.

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.

44.

Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation in a 12 years old boy.

Cifaldi C, Scarselli A, Petricone D, Di Cesare S, Chiriaco M, Claps A, Rossi P, Calzoni E, Yamazaki Y, Notarangelo LD, Di Matteo G, Cancrini C, Finocchi A.

Clin Immunol. 2016 Dec;173:121-123. doi: 10.1016/j.clim.2016.09.013. Epub 2016 Oct 3.

PMID:
27713031
45.

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.

de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM.

J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292. doi: 10.1016/j.jaci.2016.07.039. Epub 2016 Sep 30.

46.

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.

47.

Friendly fire: anti-cytokine antibodies elicited by microbes.

Notarangelo LD, Holland SM.

Nat Med. 2016 Sep 7;22(9):973-5. doi: 10.1038/nm.4175. No abstract available.

PMID:
27603131
48.

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.

Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K.

Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038.

49.

Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.

Brauer PM, Pessach IM, Clarke E, Rowe JH, Ott de Bruin L, Lee YN, Dominguez-Brauer C, Comeau AM, Awong G, Felgentreff K, Zhang YH, Bredemeyer A, Al-Herz W, Du L, Ververs F, Kennedy M, Giliani S, Keller G, Sleckman BP, Schatz DG, Bushman FD, Notarangelo LD, Zúñiga-Pflücker JC.

Blood. 2016 Aug 11;128(6):783-93. doi: 10.1182/blood-2015-10-676304. Epub 2016 Jun 14.

50.

Primary Immune Deficiency Treatment Consortium (PIDTC) update.

Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E; workshop participants.

J Allergy Clin Immunol. 2016 Aug;138(2):375-85. doi: 10.1016/j.jaci.2016.01.051. Epub 2016 Apr 22. Review.

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