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Items: 1 to 50 of 120

1.

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C, Brigida I, Barzaghi F, Zoccolillo M, Ferradini V, Petricone D, Cicalese MP, Lazarevic D, Cittaro D, Omrani M, Attardi E, Conti F, Scarselli A, Chiriaco M, Di Cesare S, Licciardi F, Davide M, Ferrua F, Canessa C, Pignata C, Giliani S, Ferrari S, Fousteri G, Barera G, Merli P, Palma P, Cesaro S, Gattorno M, Trizzino A, Moschese V, Chini L, Villa A, Azzari C, Finocchi A, Locatelli F, Rossi P, Sangiuolo F, Aiuti A, Cancrini C, Di Matteo G.

Front Immunol. 2019 May 31;10:1184. doi: 10.3389/fimmu.2019.01184. eCollection 2019.

2.

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Cifaldi C, Brigida I, Barzaghi F, Zoccolillo M, Ferradini V, Petricone D, Cicalese MP, Lazarevic D, Cittaro D, Omrani M, Attardi E, Conti F, Scarselli A, Chiriaco M, Di Cesare S, Licciardi F, Davide M, Ferrua F, Canessa C, Pignata C, Giliani S, Ferrari S, Fousteri G, Barera G, Merli P, Palma P, Cesaro S, Gattorno M, Trizzino A, Moschese V, Chini L, Villa A, Azzari C, Finocchi A, Locatelli F, Rossi P, Sangiuolo F, Aiuti A, Cancrini C, Di Matteo G.

Front Immunol. 2019 Apr 11;10:316. doi: 10.3389/fimmu.2019.00316. eCollection 2019. Erratum in: Front Immunol. 2019 May 31;10:1184.

3.

Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation.

Riccardi N, Rotulo GA, Favilli F, Loy A, Moratto D, Giliani S, Mesini A, Romanini MV, Volpi S, Moscatelli A, Castagnola E.

Infez Med. 2019 Mar 1;27(1):73-76.

4.

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
5.

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
6.

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Piovani G, Lanzi G, Ferraro RM, Masneri S, Barisani C, Savio G, Giliani SC.

Stem Cell Res. 2019 Mar;35:101393. doi: 10.1016/j.scr.2019.101393. Epub 2019 Jan 26.

7.

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Galli J, Gavazzi F, De Simone M, Giliani S, Garau J, Valente M, Vairo D, Cattalini M, Mortilla M, Andreoli L, Badolato R, Bianchi M, Carabellese N, Cereda C, Ferraro R, Facchetti F, Fredi M, Gualdi G, Lorenzi L, Meini A, Orcesi S, Tincani A, Zanola A, Rice G, Fazzi E; AGS study group.

Medicine (Baltimore). 2018 Dec;97(52):e13893. doi: 10.1097/MD.0000000000013893.

8.

Next Generation Sequencing Analysis in Early Onset Dementia Patients.

Bonvicini C, Scassellati C, Benussi L, Di Maria E, Maj C, Ciani M, Fostinelli S, Mega A, Bocchetta M, Lanzi G, Giacopuzzi E, Ferraboli S, Pievani M, Fedi V, Defanti CA, Giliani S; Alzheimer’s Disease Neuroimaging Initiative, Frisoni GB, Ghidoni R, Gennarelli M.

J Alzheimers Dis. 2019;67(1):243-256. doi: 10.3233/JAD-180482.

9.

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.

10.

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia.

Tripodi SI, Corti P, Giliani S, Lanfranchi A, Biondi A, Badolato R.

Front Pediatr. 2018 Oct 1;6:272. doi: 10.3389/fped.2018.00272. eCollection 2018.

11.

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

Yazdani R, Abolhassani H, Kiaee F, Habibi S, Azizi G, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, Gharagozlou M, Movahedi M, Hamidieh AA, Behniafard N, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Shirkani A, Amin R, Aleyasin S, Faridhosseini R, Jabbari-Azad F, Mohammadzadeh I, Ghaffari J, Shafiei A, Kalantari A, Mansouri M, Mesdaghi M, Babaie D, Ahanchian H, Khoshkhui M, Soheili H, Eslamian MH, Cheraghi T, Dabbaghzadeh A, Tavassoli M, Kalmarzi RN, Mortazavi SH, Kashef S, Esmaeilzadeh H, Tafaroji J, Khalili A, Zandieh F, Sadeghi-Shabestari M, Darougar S, Behmanesh F, Akbari H, Zandkarimi M, Abolnezhadian F, Fayezi A, Moghtaderi M, Ahmadiafshar A, Shakerian B, Sajedi V, Taghvaei B, Safari M, Heidarzadeh M, Ghalebaghi B, Fathi SM, Darabi B, Bazregari S, Bazargan N, Fallahpour M, Khayatzadeh A, Javahertrash N, Bashardoust B, Zamani M, Mohsenzadeh A, Ebrahimi S, Sharafian S, Vosughimotlagh A, Tafakoridelbari M, Rahim M, Ashournia P, Razaghian A, Rezaei A, Samavat A, Mamishi S, Khazaei HA, Mohammadi J, Negahdari B, Parvaneh N, Rezaei N, Lougaris V, Giliani S, Plebani A, Ochs HD, Hammarström L, Aghamohammadi A.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):864-878.e9. doi: 10.1016/j.jaip.2018.09.004. Epub 2018 Sep 19.

PMID:
30240888
12.

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.

13.

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.

PMID:
30053428
14.

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
15.

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 Oct;142(4):1272-1284. doi: 10.1016/j.jaci.2017.12.1000. Epub 2018 Feb 6.

16.

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.

17.

Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen.

Saettini F, Pelagatti MA, Sala D, Moratto D, Giliani S, Badolato R, Biondi A.

Immunol Lett. 2017 Oct;190:279-281. doi: 10.1016/j.imlet.2017.08.021. Epub 2017 Aug 31.

PMID:
28842185
18.

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.

19.

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.

20.

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.

21.

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.

22.

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

Filosto M, Lanzi G, Nesti C, Vielmi V, Marchina E, Galvagni A, Giliani S, Santorelli FM, Padovani A.

Mol Genet Metab Rep. 2016 Feb 27;6:70-3. doi: 10.1016/j.ymgmr.2016.02.001. eCollection 2016 Mar.

23.

Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.

Abolhassani H, Vitali M, Lougaris V, Giliani S, Parvaneh N, Parvaneh L, Mirminachi B, Cheraghi T, Khazaei H, Mahdaviani SA, Kiaei F, Tavakolinia N, Mohammadi J, Negahdari B, Rezaei N, Hammarstrom L, Plebani A, Aghamohammadi A.

Expert Rev Clin Immunol. 2016;12(4):479-86. doi: 10.1586/1744666X.2016.1139451. Epub 2016 Feb 24.

PMID:
26910880
24.

Patients' Induced Pluripotent Stem Cells to Model Drug Induced Adverse Events: A Role in Predicting Thiopurine Induced Pancreatitis?

Stocco G, Lanzi G, Yue F, Giliani S, Sasaki K, Tommasini A, Pelin M, Martelossi S, Ventura A, Decorti G.

Curr Drug Metab. 2015;17(1):91-8. Review.

PMID:
26526832
25.

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD.

J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26. No abstract available.

26.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

Frugoni F, Dobbs K, Felgentreff K, Aldhekri H, Al Saud BK, Arnaout R, Ali AA, Abhyankar A, Alroqi F, Giliani S, Ojeda MM, Tsitsikov E, Pai SY, Casanova JL, Notarangelo LD, Manis JP.

J Allergy Clin Immunol. 2016 Feb;137(2):635-638.e1. doi: 10.1016/j.jaci.2015.06.049. Epub 2015 Sep 11. No abstract available.

27.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

Lougaris V, Faletra F, Lanzi G, Vozzi D, Marcuzzi A, Valencic E, Piscianz E, Bianco A, Girardelli M, Baronio M, Loganes C, Fasth A, Salvini F, Trizzino A, Moratto D, Facchetti F, Giliani S, Plebani A, Tommasini A.

Clin Immunol. 2015 Jul;159(1):33-6. doi: 10.1016/j.clim.2015.04.014. Epub 2015 May 1. No abstract available.

PMID:
25939554
28.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD.

J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25.

29.

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.

Felgentreff K, Du L, Weinacht KG, Dobbs K, Bartish M, Giliani S, Schlaeger T, DeVine A, Schambach A, Woodbine LJ, Davies G, Baxi SN, van der Burg M, Bleesing J, Gennery A, Manis J, Pan-Hammarström Q, Notarangelo LD.

Proc Natl Acad Sci U S A. 2014 Jun 17;111(24):8889-94. doi: 10.1073/pnas.1323649111. Epub 2014 Jun 2.

30.

Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.

Pasic S, Vujic D, Veljković D, Slavkovic B, Mostarica-Stojkovic M, Minic P, Minic A, Ristic G, Giliani S, Villa A, Sobacchi C, Lilić D, Abinun M.

J Clin Immunol. 2014 Apr;34(3):304-8. doi: 10.1007/s10875-014-9991-9. Epub 2014 Feb 1.

PMID:
24481607
31.

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.

Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD.

J Allergy Clin Immunol. 2014 May;133(5):1462-5, 1465.e1-5. doi: 10.1016/j.jaci.2013.10.052. Epub 2013 Dec 24. No abstract available.

PMID:
24373355
32.

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD.

J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28.

33.

Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.

Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, Frenette P, Roy-Chowdhury J, Rogler CE.

Hum Mol Genet. 2014 Jan 15;23(2):368-82. doi: 10.1093/hmg/ddt427. Epub 2013 Sep 5.

34.

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD.

J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4.

35.

Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.

Konstantinou P, Kanariou M, Giliani SC, Pantelidaki A, Kokolakis A, Tosca A.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e223-5. doi: 10.1111/pde.12151. Epub 2013 May 13.

PMID:
23662797
36.

Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.

Cattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, Wysocki CA, Calderon JG, Eibel H, Smith AR, Bonilla FA, Tsitsikov E, Giliani S, Notarangelo LD, Pai SY.

J Allergy Clin Immunol. 2013 Apr;131(4):1136-45. doi: 10.1016/j.jaci.2012.12.667. Epub 2013 Feb 4.

37.

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Recher M, Fried AJ, Massaad MJ, Kim HY, Rizzini M, Frugoni F, Walter JE, Mathew D, Eibel H, Hess C, Giliani S, Umetsu DT, Notarangelo LD, Geha RS.

Clin Immunol. 2013 Feb;146(2):84-9. doi: 10.1016/j.clim.2012.11.007. Epub 2012 Dec 7.

38.

Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children.

Esposito S, Molteni CG, Giliani S, Mazza C, Scala A, Tagliaferri L, Pelucchi C, Fossali E, Plebani A, Principi N.

Virol J. 2012 Nov 15;9:270. doi: 10.1186/1743-422X-9-270.

39.

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.

Abraham RS, Recher M, Giliani S, Walter JE, Lee YN, Frugoni F, Maddox DE, Kirmani S, Notarangelo LD.

J Allergy Clin Immunol. 2013 May;131(5):1421-3. doi: 10.1016/j.jaci.2012.09.016. Epub 2012 Nov 2. No abstract available.

40.

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C.

Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28.

41.

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A.

Autoimmun Rev. 2013 Feb;12(4):506-9. doi: 10.1016/j.autrev.2012.08.012. Epub 2012 Aug 24. Review.

PMID:
22940555
42.

The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies.

Weinacht KG, Brauer PM, Felgentreff K, Devine A, Gennery AR, Giliani S, Al-Herz W, Schambach A, Zúñiga-Pflücker JC, Notarangelo LD.

Curr Opin Immunol. 2012 Oct;24(5):617-24. doi: 10.1016/j.coi.2012.07.001. Epub 2012 Jul 25. Review.

43.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ.

J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25. No abstract available.

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Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

Palendira U, Low C, Bell AI, Ma CS, Abbott RJ, Phan TG, Riminton DS, Choo S, Smart JM, Lougaris V, Giliani S, Buckley RH, Grimbacher B, Alvaro F, Klion AD, Nichols KE, Adelstein S, Rickinson AB, Tangye SG.

J Exp Med. 2012 May 7;209(5):913-24. doi: 10.1084/jem.20112391. Epub 2012 Apr 9.

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A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.

Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S.

J Exp Med. 2012 Jan 16;209(1):29-34. doi: 10.1084/jem.20110896. Epub 2012 Jan 9.

46.

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.

Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo F, Ziegler JB, Giliani S, Tangye SG, Notarangelo LD.

Blood. 2011 Dec 22;118(26):6824-35. doi: 10.1182/blood-2011-06-362533. Epub 2011 Oct 28.

47.

Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency.

Tampella G, Baronio M, Vitali M, Soresina A, Badolato R, Giliani S, Plebani A, Lougaris V.

J Investig Allergol Clin Immunol. 2011;21(5):348-53.

48.

Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency.

Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD.

Front Immunol. 2011 May 10;2(15). pii: 00015.

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Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation.

Vairo D, Tassone L, Tabellini G, Tamassia N, Gasperini S, Bazzoni F, Plebani A, Porta F, Notarangelo LD, Parolini S, Giliani S, Badolato R.

Blood. 2011 Aug 18;118(7):1806-17. doi: 10.1182/blood-2011-01-330571. Epub 2011 Jul 19.

50.

Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.

Michos A, Tzanoudaki M, Villa A, Giliani S, Chrousos G, Kanariou M.

J Clin Immunol. 2011 Oct;31(5):778-83. doi: 10.1007/s10875-011-9564-0. Epub 2011 Jul 6.

PMID:
21732012

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