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Items: 1 to 50 of 491

1.

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

Lee PY, Huang Y, Zhou Q, Schnappauf O, Hershfield MS, Li Y, Ganson NJ, Sampaio Moura N, Delmonte OM, Stone SS, Rivkin MJ, Pai SY, Lyons T, Sundel RP, Hsu VW, Notarangelo LD, Aksentijevich I, Nigrovic PA.

J Allergy Clin Immunol. 2018 Jun 21. pii: S0091-6749(18)30902-3. doi: 10.1016/j.jaci.2018.05.038. [Epub ahead of print]

PMID:
29936104
2.

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. 2018 Jun 16. pii: S0091-6749(18)30699-7. doi: 10.1016/j.jaci.2018.04.027. [Epub ahead of print]

PMID:
29772310
3.

Second-line therapy in paediatric warm autoimmune haemolytic anaemia. Guidelines from the Associazione Italiana Onco-Ematologia Pediatrica (AIEOP).

Ladogana S, Maruzzi M, Samperi P, Condorelli A, Casale M, Giordano P, Notarangelo LD, Farruggia P, Giona F, Nocerino A, Fasoli S, Casciana ML, Miano M, Tucci F, Casini T, Saracco P, Barcellini W, Zanella A, Perrotta S, Russo G; AIHA Committee of the Associazione Italiana di Ematologia ed Oncologia Pediatrica.

Blood Transfus. 2018 Jul;16(4):352-357. doi: 10.2450/2018.0024-18. Epub 2018 Apr 13. No abstract available.

4.

Future of Care for Patients With Chronic Granulomatous Disease: Gene Therapy and Targeted Molecular Medicine.

Keller MD, Notarangelo LD, Malech HL.

J Pediatric Infect Dis Soc. 2018 May 9;7(suppl_1):S40-S44. doi: 10.1093/jpids/piy011.

PMID:
29746676
5.

Hypomorphic Rag1 mutations alter the pre-immune repertoire at early stages of lymphoid development.

Ott de Bruin LM, Bosticardo M, Barbieri A, Lin SG, Rowe JH, Poliani PL, Ching K, Eriksson D, Landegren N, Kämpe O, Manis JP, Notarangelo LD.

Blood. 2018 May 9. pii: blood-2017-12-820985. doi: 10.1182/blood-2017-12-820985. [Epub ahead of print]

PMID:
29743177
6.

Fulminant septic shock caused by Capnocytophaga canimorsus in Italy: Case report.

Piccinelli G, Caccuri F, De Peri E, Tironi A, Odolini S, Notarangelo LD, Gargiulo F, Castelli F, Latronico N, Facchetti F, Caruso A.

Int J Infect Dis. 2018 Jul;72:3-5. doi: 10.1016/j.ijid.2018.04.4319. Epub 2018 May 3.

7.

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
8.

WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.

Biswas A, Shouval DS, Griffith A, Goettel JA, Field M, Kang YH, Konnikova L, Janssen E, Redhu NS, Thrasher AJ, Chatila T, Kuchroo VK, Geha RS, Notarangelo LD, Pai SY, Horwitz BH, Snapper SB.

Nat Commun. 2018 May 3;9(1):1779. doi: 10.1038/s41467-018-03670-6.

9.

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function.

Rowe JH, Delmonte OM, Keles S, Stadinski BD, Dobbs AK, Henderson LA, Yamazaki Y, Allende LM, Bonilla FA, Gonzalez-Granado LI, Celikbilek Celik S, Guner SN, Kapakli H, Yee C, Pai SY, Huseby ES, Reisli I, Regueiro JR, Notarangelo LD.

Blood. 2018 May 24;131(21):2335-2344. doi: 10.1182/blood-2018-02-835561. Epub 2018 Apr 13.

PMID:
29653965
10.

Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome.

Saettini F, Notarangelo LD, Biondi A, Bonanomi S.

Pediatr Int. 2018 Mar;60(3):318-319. doi: 10.1111/ped.13488. No abstract available.

PMID:
29575308
11.

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

De Rose DU, Giliani S, Notarangelo LD, Lougaris V, Lanfranchi A, Moratto D, Martire B, Specchia F, Tommasini A, Plebani A, Badolato R.

Clin Immunol. 2018 Jun;191:75-80. doi: 10.1016/j.clim.2018.03.005. Epub 2018 Mar 13.

PMID:
29548898
12.

CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ.

Cabral-Marques O, França TT, Al-Sbiei A, Schimke LF, Khan TA, Feriotti C, da Costa TA, Junior OR, Weber CW, Ferreira JF, Tavares FS, Valente C, Di Gesu RSW, Iqbal A, Riemekasten G, Amarante-Mendes GP, Marzagão Barbuto JA, Costa-Carvalho BT, Pereira PVS, Fernandez-Cabezudo MJ, Calich VLG, Notarangelo LD, Torgerson TR, Al-Ramadi BK, Ochs HD, Condino-Neto A.

J Allergy Clin Immunol. 2018 Mar 5. pii: S0091-6749(18)30318-X. doi: 10.1016/j.jaci.2018.02.026. [Epub ahead of print]

PMID:
29518426
13.

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.

14.

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 May;190:11-14. doi: 10.1016/j.clim.2018.02.008. Epub 2018 Feb 21. No abstract available.

PMID:
29476811
15.

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
16.

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

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

J Allergy Clin Immunol. 2018 Feb 13. pii: S0091-6749(18)30207-0. doi: 10.1016/j.jaci.2017.11.063. [Epub ahead of print]

PMID:
29447842
17.

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 6. pii: S0091-6749(18)30201-X. doi: 10.1016/j.jaci.2017.12.1000. [Epub ahead of print]

PMID:
29421274
18.

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 Aug;193:118-120. doi: 10.1016/j.clim.2018.01.004. Epub 2018 May 7.

PMID:
29355610
19.

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.

20.

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
21.

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. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

22.

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
23.

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.

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.

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.

26.

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
27.

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

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

Clin Immunol. 2018 Feb;187:68-75. doi: 10.1016/j.clim.2017.10.006. Epub 2017 Oct 16.

PMID:
29051008
28.

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.

29.

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
30.

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
31.

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.

32.

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
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, 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.

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
36.

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
37.

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.

38.

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
39.

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.

40.
41.

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.

42.

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
43.

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.

44.

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.

45.

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
46.

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.

47.

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.

48.

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.

49.

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.

50.

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.

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