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Items: 1 to 50 of 536

1.

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies.

Tabellini G, Patrizi O, Dobbs K, Lougaris V, Baronio M, Coltrini D, Plebani A, Badolato R, Notarangelo LD, Parolini S.

Front Immunol. 2019 Jul 24;10:1757. doi: 10.3389/fimmu.2019.01757. eCollection 2019. Review.

2.

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Chellapandian D, Dávila Saldaña BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM; submitted on behalf of the Primary Immune Deficiency Treatment Consortium.

J Clin Immunol. 2019 Aug 2. doi: 10.1007/s10875-019-00659-8. [Epub ahead of print]

PMID:
31376032
3.

Primary Immunodeficiencies and Oncological Risk: The Experience of the Children's Hospital of Brescia.

Maffeis M, Notarangelo LD, Schumacher RF, Soncini E, Soresina A, Lanfranchi A, Porta F.

Front Pediatr. 2019 Jun 19;7:232. doi: 10.3389/fped.2019.00232. eCollection 2019.

4.

Severe influenza pneumonitis in children with inherited TLR3 deficiency.

Lim HK, Huang SXL, Chen J, Kerner G, Gilliaux O, Bastard P, Dobbs K, Hernandez N, Goudin N, Hasek ML, García Reino EJ, Lafaille FG, Lorenzo L, Luthra P, Kochetkov T, Bigio B, Boucherit S, Rozenberg F, Vedrinne C, Keller MD, Itan Y, García-Sastre A, Celard M, Orange JS, Ciancanelli MJ, Meyts I, Zhang Q, Abel L, Notarangelo LD, Snoeck HW, Casanova JL, Zhang SY.

J Exp Med. 2019 Jun 19. pii: jem.20181621. doi: 10.1084/jem.20181621. [Epub ahead of print]

PMID:
31217193
5.

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ.

J Allergy Clin Immunol. 2019 Jun 13. pii: S0091-6749(19)30762-6. doi: 10.1016/j.jaci.2019.06.003. [Epub ahead of print]

6.

Physical activity improved by adherence to prophylaxis in an Italian population of children, adolescents and adults with severe haemophilia A: the SHAPE Study.

Zanon E, Tagliaferri A, Pasca S, Ettorre CP, Notarangelo LD, Biasioli C, Aru AB, Milan M, Linari S, Rocino A, Gagliano F, Di Minno G, Gamba G, Santoro RC, Schinco P, Marietta M, Seuser A, von Mackensen S.

Blood Transfus. 2019 Jun 5:1-6. doi: 10.2450/2019.0040-19. [Epub ahead of print]

7.

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
8.

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.

PMID:
31053347
9.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ.

J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30.

PMID:
31040185
10.

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.

11.

Consensus statements on vaccination in patients with haemophilia-Results from the Italian haemophilia and vaccinations (HEVA) project.

Santagostino E, Riva A, Cesaro S, Esposito S, Matino D, Mazzucchelli RI, Molinari AC, Mura R, Notarangelo LD, Tagliaferri A, Di Minno G, Clerici M; the HEVA Study Group.

Haemophilia. 2019 Jul;25(4):656-667. doi: 10.1111/hae.13756. Epub 2019 Apr 16.

PMID:
30990961
12.

Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature.

Dell'Acqua F, Saettini F, Castelli I, Badolato R, Notarangelo LD, Rizzari C.

J Allergy Clin Immunol Pract. 2019 Apr 8. pii: S2213-2198(19)30335-6. doi: 10.1016/j.jaip.2019.04.001. [Epub ahead of print] No abstract available.

PMID:
30974211
13.

Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.

Marcovecchio GE, Bortolomai I, Ferrua F, Fontana E, Imberti L, Conforti E, Amodio D, Bergante S, Macchiarulo G, D'Oria V, Conti F, Di Cesare S, Fousteri G, Carotti A, Giamberti A, Poliani PL, Notarangelo LD, Cancrini C, Villa A, Bosticardo M.

Front Immunol. 2019 Mar 15;10:447. doi: 10.3389/fimmu.2019.00447. eCollection 2019.

14.

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.

15.

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.

Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, Timeus F, Fagioli F, Maiuri L, Colombo E, Savoia P.

Medicina (Kaunas). 2019 Mar 25;55(3). pii: E78. doi: 10.3390/medicina55030078.

16.

Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.

Sereni L, Castiello MC, Di Silvestre D, Della Valle P, Brombin C, Ferrua F, Cicalese MP, Pozzi L, Migliavacca M, Bernardo ME, Pignata C, Farah R, Notarangelo LD, Marcus N, Cattaneo L, Spinelli M, Giannelli S, Bosticardo M, van Rossem K, D'Angelo A, Aiuti A, Mauri P, Villa A.

J Allergy Clin Immunol. 2019 Mar 27. pii: S0091-6749(19)30410-5. doi: 10.1016/j.jaci.2019.03.012. [Epub ahead of print]

17.

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.

18.

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 L, 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 Jul - Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12.

19.

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.

Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I.

J Clin Immunol. 2019 Apr;39(3):298-308. doi: 10.1007/s10875-019-00603-w. Epub 2019 Mar 5.

PMID:
30838481
20.

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.

PMID:
30822429
21.

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.

Galli J, Pinelli L, Micheletti S, Palumbo G, Notarangelo LD, Lougaris V, Dotta L, Fazzi E, Badolato R.

Orphanet J Rare Dis. 2019 Feb 28;14(1):61. doi: 10.1186/s13023-019-1030-8.

22.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW.

J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. No abstract available.

PMID:
30771411
23.

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6.

PMID:
30738173
24.

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.

Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R.

J Allergy Clin Immunol Pract. 2019 May - Jun;7(5):1568-1577. doi: 10.1016/j.jaip.2019.01.045. Epub 2019 Feb 2.

PMID:
30716504
25.

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, Klein C, Bryceson YT, Geha RS, Notarangelo LD.

Front Immunol. 2019 Jan 15;9:3146. doi: 10.3389/fimmu.2018.03146. eCollection 2018.

26.

Human Fibrinogen Concentrate and Fresh Frozen Plasma in the Management of Severe Acquired Hypofibrinogenemia in Children With Acute Lymphoblastic Leukemia: Results of a Retrospective Survey.

Giordano P, Grassi M, Saracco P, Luciani M, Colombini A, Testi AM, Micalizzi C, Petruzziello F, Putti MC, Casale F, Consarino C, Mura RM, Mastrodicasa E, Notarangelo LD, Onofrillo D, Pollio B, Rizzari C, Tafuri S, De Leonardis F, Corallo PC, Santoro N.

J Pediatr Hematol Oncol. 2019 May;41(4):275-279. doi: 10.1097/MPH.0000000000001390.

PMID:
30640822
27.

RAG gene defects at the verge of immunodeficiency and immune dysregulation.

Villa A, Notarangelo LD.

Immunol Rev. 2019 Jan;287(1):73-90. doi: 10.1111/imr.12713. Review.

PMID:
30565244
28.

Metagenomic Discovery of 83 New Human Papillomavirus Types in Patients with Immunodeficiency.

Pastrana DV, Peretti A, Welch NL, Borgogna C, Olivero C, Badolato R, Notarangelo LD, Gariglio M, FitzGerald PC, McIntosh CE, Reeves J, Starrett GJ, Bliskovsky V, Velez D, Brownell I, Yarchoan R, Wyvill KM, Uldrick TS, Maldarelli F, Lisco A, Sereti I, Gonzalez CM, Androphy EJ, McBride AA, Van Doorslaer K, Garcia F, Dvoretzky I, Liu JS, Han J, Murphy PM, McDermott DH, Buck CB.

mSphere. 2018 Dec 12;3(6). pii: e00645-18. doi: 10.1128/mSphereDirect.00645-18.

29.

Wiskott-Aldrich syndrome protein (WASP) is a tumor suppressor in T cell lymphoma.

Menotti M, Ambrogio C, Cheong TC, Pighi C, Mota I, Cassel SH, Compagno M, Wang Q, Dall'Olio R, Minero VG, Poggio T, Sharma GG, Patrucco E, Mastini C, Choudhari R, Pich A, Zamo A, Piva R, Giliani S, Mologni L, Collings CK, Kadoch C, Gambacorti-Passerini C, Notarangelo LD, Anton IM, Voena C, Chiarle R.

Nat Med. 2019 Jan;25(1):130-140. doi: 10.1038/s41591-018-0262-9. Epub 2018 Dec 3.

30.

Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry.

Farruggia P, Fioredda F, Puccio G, Onofrillo D, Russo G, Barone A, Bonanomi S, Boscarol G, Finocchi A, Ghilardi R, Giordano P, Ladogana S, Lassandro G, Luti L, Lanza T, Mandaglio R, Marra N, Martire B, Mastrodicasa E, Motta M, Notarangelo LD, Pillon M, Porretti L, Serafinelli J, Trizzino A, Tucci F, Veltroni M, Verzegnassi F, Ramenghi U, Dufour C.

Am J Hematol. 2019 Feb;94(2):216-222. doi: 10.1002/ajh.25353. Epub 2018 Dec 18.

PMID:
30456824
31.

Correspondence: Osteonecrosis in childhood acute lymphoblastic leukemia: a retrospective cohort study of the Italian Association of Pediatric Haemato-Oncology (AIEOP).

Parasole R, Valsecchi MG, Silvestri D, Locatelli F, Barisone E, Petruzziello F, Putti MC, Micalizzi C, Colombini A, Mura R, Mina T, Testi AM, Notarangelo LD, Santoro N, Casini T, Consarino C, Nigro LL, Ziino O, Giagnuolo G, Rizzari C, Conter V.

Blood Cancer J. 2018 Nov 15;8(12):115. doi: 10.1038/s41408-018-0150-z. No abstract available.

32.

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, Boisson B, Radigan L, Cobat A, Dinakar C, Ehlayel M, Ben-Omran T, Gelfand EW, Casanova JL, Cunningham-Rundles C.

J Clin Invest. 2018 Dec 3;128(12):5489-5504. doi: 10.1172/JCI99629. Epub 2018 Nov 5.

33.

Role of antithyroid autoimmunity as a predictive biomarker of chronic immune thrombocytopenia.

Giordano P, Urbano F, Lassandro G, Bianchi FP, Tolva A, Saracco P, Russo G, Notarangelo LD, Gabelli M, Cesaro S, Wasniewska M, Faienza MF.

Pediatr Blood Cancer. 2019 Jan;66(1):e27452. doi: 10.1002/pbc.27452. Epub 2018 Sep 30.

PMID:
30270575
34.

T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency.

Clarke EL, Connell AJ, Six E, Kadry NA, Abbas AA, Hwang Y, Everett JK, Hofstaedter CE, Marsh R, Armant M, Kelsen J, Notarangelo LD, Collman RG, Hacein-Bey-Abina S, Kohn DB, Cavazzana M, Fischer A, Williams DA, Pai SY, Bushman FD.

Genome Med. 2018 Sep 28;10(1):70. doi: 10.1186/s13073-018-0580-z.

35.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A.

Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25.

PMID:
30254128
36.

Hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Who, when, and how?

Notarangelo LD.

J Allergy Clin Immunol. 2019 Jan;143(1):91-93. doi: 10.1016/j.jaci.2018.08.039. Epub 2018 Sep 12. No abstract available.

37.

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E.

J Allergy Clin Immunol. 2019 Mar;143(3):852-863. doi: 10.1016/j.jaci.2018.08.024. Epub 2018 Sep 5.

PMID:
30194989
38.

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
39.

Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection.

Zimmer B, Ewaleifoh O, Harschnitz O, Lee YS, Peneau C, McAlpine JL, Liu B, Tchieu J, Steinbeck JA, Lafaille F, Volpi S, Notarangelo LD, Casanova JL, Zhang SY, Smith GA, Studer L.

Proc Natl Acad Sci U S A. 2018 Sep 11;115(37):E8775-E8782. doi: 10.1073/pnas.1809853115. Epub 2018 Aug 28.

40.

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
41.

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Danielson J, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Giliani S, Chaussabel D, Notarangelo LD, Elledge SJ, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL.

J Exp Med. 2018 Oct 1;215(10):2567-2585. doi: 10.1084/jem.20180628. Epub 2018 Aug 24.

42.

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity.

Preite S, Cannons JL, Radtke AJ, Vujkovic-Cvijin I, Gomez-Rodriguez J, Volpi S, Huang B, Cheng J, Collins N, Reilley J, Handon R, Dobbs K, Huq L, Raman I, Zhu C, Li QZ, Li MO, Pittaluga S, Uzel G, Notarangelo LD, Belkaid Y, Germain RN, Schwartzberg PL.

Nat Immunol. 2018 Sep;19(9):986-1000. doi: 10.1038/s41590-018-0182-3. Epub 2018 Aug 20.

43.

HPV: CIB1 is for EVER and EVER.

Notarangelo LD.

J Exp Med. 2018 Sep 3;215(9):2229-2231. doi: 10.1084/jem.20181207. Epub 2018 Aug 1.

44.

Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.

Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, Gupta A, Goel S, Karim A, Saikia B, Minz RW, Imai K, Nonoyama S, Ohara O, Giliani SC, Notarangelo LD, Chan KW, Lau YL, Singh S.

Clin Immunol. 2018 Oct;195:59-66. doi: 10.1016/j.clim.2018.07.013. Epub 2018 Jul 25.

45.

RAG Deficiency: Two Genes, Many Diseases.

Delmonte OM, Schuetz C, Notarangelo LD.

J Clin Immunol. 2018 Aug;38(6):646-655. doi: 10.1007/s10875-018-0537-4. Epub 2018 Jul 25. Review.

46.

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 Oct;142(4):1363-1365.e8. doi: 10.1016/j.jaci.2018.05.038. Epub 2018 Jun 21. No abstract available.

47.

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.

48.

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.

49.

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. Review.

50.

Hypomorphic Rag1 mutations alter the preimmune 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 Jul 19;132(3):281-292. doi: 10.1182/blood-2017-12-820985. Epub 2018 May 9.

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