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Items: 1 to 20 of 104

1.

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 Aug 31;190:279-281. doi: 10.1016/j.imlet.2017.08.021. [Epub ahead of print]

PMID:
28842185
2.

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, de Bruin LO, 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.

3.

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.

4.

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.

5.

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.

6.

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.

7.

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
8.

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
9.

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.

10.

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.

11.

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
12.

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.

13.

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.

14.

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
15.

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
16.

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.

17.

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.

18.

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.

19.

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
20.

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.

PMID:
23384681

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