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Results: 1 to 20 of 67

1.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

PMID:
24552284
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A.

J Allergy Clin Immunol. 2014 Mar;133(3):799-806.e10. doi: 10.1016/j.jaci.2013.12.1043. Epub 2014 Feb 5.

PMID:
24506932
[PubMed - indexed for MEDLINE]
3.

Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O'Reilly RJ, Fleisher TA, Pai SY, Martinez CA, Buckley RH, Cowan MJ.

J Allergy Clin Immunol. 2014 Apr;133(4):1092-8. doi: 10.1016/j.jaci.2013.09.044. Epub 2013 Nov 28.

PMID:
24290292
[PubMed - indexed for MEDLINE]
4.

How I treat severe combined immunodeficiency.

Gaspar HB, Qasim W, Davies EG, Rao K, Amrolia PJ, Veys P.

Blood. 2013 Nov 28;122(23):3749-58. doi: 10.1182/blood-2013-02-380105. Epub 2013 Oct 10.

PMID:
24113871
[PubMed - indexed for MEDLINE]
Free Article
5.

The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH.

J Clin Immunol. 2013 Oct;33(7):1156-64. doi: 10.1007/s10875-013-9917-y. Epub 2013 Jul 2.

PMID:
23818196
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

la Marca G, Canessa C, Giocaliere E, Romano F, Duse M, Malvagia S, Lippi F, Funghini S, Bianchi L, Della Bona ML, Valleriani C, Ombrone D, Moriondo M, Villanelli F, Speckmann C, Adams S, Gaspar BH, Hershfield M, Santisteban I, Fairbanks L, Ragusa G, Resti M, de Martino M, Guerrini R, Azzari C.

J Allergy Clin Immunol. 2013 Jun;131(6):1604-10. doi: 10.1016/j.jaci.2012.08.054. Epub 2012 Dec 30.

PMID:
23280131
[PubMed - indexed for MEDLINE]
7.

Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life.

Manson D, Diamond L, Oudjhane K, Hussain FB, Roifman C, Grunebaum E.

Pediatr Radiol. 2013 Mar;43(5):589-92. doi: 10.1007/s00247-012-2564-2. Epub 2012 Nov 24.

PMID:
23179487
[PubMed - indexed for MEDLINE]
8.

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Candotti F, Shaw KL, Muul L, Carbonaro D, Sokolic R, Choi C, Schurman SH, Garabedian E, Kesserwan C, Jagadeesh GJ, Fu PY, Gschweng E, Cooper A, Tisdale JF, Weinberg KI, Crooks GM, Kapoor N, Shah A, Abdel-Azim H, Yu XJ, Smogorzewska M, Wayne AS, Rosenblatt HM, Davis CM, Hanson C, Rishi RG, Wang X, Gjertson D, Yang OO, Balamurugan A, Bauer G, Ireland JA, Engel BC, Podsakoff GM, Hershfield MS, Blaese RM, Parkman R, Kohn DB.

Blood. 2012 Nov 1;120(18):3635-46. doi: 10.1182/blood-2012-02-400937. Epub 2012 Sep 11.

PMID:
22968453
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency.

Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Lanfranchi A, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and European Society for Immunodeficiency.

Blood. 2012 Oct 25;120(17):3615-24; quiz 3626. doi: 10.1182/blood-2011-12-396879. Epub 2012 Jul 12.

PMID:
22791287
[PubMed - indexed for MEDLINE]
Free Article
10.

Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.

Speckmann C, Neumann C, Borte S, la Marca G, Sass JO, Wiech E, Fisch P, Schwarz K, Buchholz B, Schlesier M, Felgentreff K, Grimbacher B, Santisteban I, Bali P, Hershfield MS, Ehl S.

J Allergy Clin Immunol. 2012 Oct;130(4):991-4. doi: 10.1016/j.jaci.2012.04.004. Epub 2012 May 10. No abstract available.

PMID:
22578972
[PubMed - indexed for MEDLINE]
11.

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

Grunebaum E, Cutz E, Roifman CM.

J Allergy Clin Immunol. 2012 Jun;129(6):1588-93. doi: 10.1016/j.jaci.2012.02.003. Epub 2012 Mar 10.

PMID:
22409989
[PubMed - indexed for MEDLINE]
12.

Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency.

Booth C, Algar VE, Xu-Bayford J, Fairbanks L, Owens C, Gaspar HB.

J Clin Immunol. 2012 Jun;32(3):449-53. doi: 10.1007/s10875-012-9658-3. Epub 2012 Feb 21.

PMID:
22350222
[PubMed - indexed for MEDLINE]
13.

Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.

Kesserwan C, Sokolic R, Cowen EW, Garabedian E, Heselmeyer-Haddad K, Lee CC, Pittaluga S, Ortiz C, Baird K, Lopez-Terrada D, Bridge J, Wayne AS, Candotti F.

J Allergy Clin Immunol. 2012 Mar;129(3):762-769.e1. doi: 10.1016/j.jaci.2011.10.028. Epub 2011 Dec 6.

PMID:
22153773
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.

Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, Buckley R, Issekutz AC, Kamani N, Shaw K, Tan B, Bali P, Hershfield MS, Kohn DB, Wayne AS, Candotti F.

Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1. Erratum in: Blood. 2014 Mar 13;123(11):1767.

PMID:
21725047
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

Moncada-Vélez M, Vélez-Ortega A, Orrego J, Santisteban I, Jagadeesh J, Olivares M, Olaya N, Hershfield M, Candotti F, Franco J.

Scand J Immunol. 2011 Nov;74(5):471-81. doi: 10.1111/j.1365-3083.2011.02593.x.

PMID:
21671975
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry.

Azzari C, la Marca G, Resti M.

J Allergy Clin Immunol. 2011 Jun;127(6):1394-9. doi: 10.1016/j.jaci.2011.03.040.

PMID:
21624616
[PubMed - indexed for MEDLINE]
17.

The different extent of B and T cell immune reconstitution after hematopoietic stem cell transplantation and enzyme replacement therapies in SCID patients with adenosine deaminase deficiency.

Serana F, Sottini A, Chiarini M, Zanotti C, Ghidini C, Lanfranchi A, Notarangelo LD, Caimi L, Imberti L.

J Immunol. 2010 Dec 15;185(12):7713-22. doi: 10.4049/jimmunol.1001770. Epub 2010 Nov 5.

PMID:
21057082
[PubMed - indexed for MEDLINE]
Free Article
18.

Gene therapy for adenosine deaminase deficiency.

Cappelli B, Aiuti A.

Immunol Allergy Clin North Am. 2010 May;30(2):249-60. doi: 10.1016/j.iac.2010.02.003. Review.

PMID:
20493400
[PubMed - indexed for MEDLINE]
19.

Bone marrow transplantation and alternatives for adenosine deaminase deficiency.

Gaspar HB.

Immunol Allergy Clin North Am. 2010 May;30(2):221-36. doi: 10.1016/j.iac.2010.01.002. Review.

PMID:
20493398
[PubMed - indexed for MEDLINE]
20.

Role of reduced intensity conditioning in T-cell and B-cell immune reconstitution after HLA-identical bone marrow transplantation in ADA-SCID.

Cancrini C, Ferrua F, Scarselli A, Brigida I, Romiti ML, Barera G, Finocchi A, Roncarolo MG, Caniglia M, Aiuti A.

Haematologica. 2010 Oct;95(10):1778-82. doi: 10.3324/haematol.2010.025098. Epub 2010 May 11.

PMID:
20460637
[PubMed - indexed for MEDLINE]
Free PMC Article

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