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Items: 1 to 20 of 45

1.

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.

Okuno Y, Hoshino A, Muramatsu H, Kawashima N, Wang X, Yoshida K, Wada T, Gunji M, Toma T, Kato T, Shiraishi Y, Iwata A, Hori T, Kitoh T, Chiba K, Tanaka H, Sanada M, Takahashi Y, Nonoyama S, Ito M, Miyano S, Ogawa S, Kojima S, Kanegane H.

J Clin Immunol. 2015 Oct;35(7):610-4. doi: 10.1007/s10875-015-0202-0. Epub 2015 Sep 26.

PMID:
26407811
2.

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina S, Pai SY, Gaspar HB, Armant M, Berry CC, Blanche S, Bleesing J, Blondeau J, de Boer H, Buckland KF, Caccavelli L, Cros G, De Oliveira S, Fernández KS, Guo D, Harris CE, Hopkins G, Lehmann LE, Lim A, London WB, van der Loo JC, Malani N, Male F, Malik P, Marinovic MA, McNicol AM, Moshous D, Neven B, Oleastro M, Picard C, Ritz J, Rivat C, Schambach A, Shaw KL, Sherman EA, Silberstein LE, Six E, Touzot F, Tsytsykova A, Xu-Bayford J, Baum C, Bushman FD, Fischer A, Kohn DB, Filipovich AH, Notarangelo LD, Cavazzana M, Williams DA, Thrasher AJ.

N Engl J Med. 2014 Oct 9;371(15):1407-17. doi: 10.1056/NEJMoa1404588.

3.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR.

JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. Erratum in: JAMA. 2014 Nov 26;312(20):2169. Bonagura, Vincent R [Added].

4.

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ.

N Engl J Med. 2014 Jul 31;371(5):434-46. doi: 10.1056/NEJMoa1401177.

5.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

6.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS.; COMMITTEE ON GENETICS, AND.; AMERICAN COLLEGE OF MEDICAL GENETICS AND.; GENOMICS SOCIAL.; ETHICAL.; LEGAL ISSUES COMMITTEE..

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

7.

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.

Puck JM.

J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.

8.

The long quest for neonatal screening for severe combined immunodeficiency.

Buckley RH.

J Allergy Clin Immunol. 2012 Mar;129(3):597-604; quiz 605-6. doi: 10.1016/j.jaci.2011.12.964. Epub 2012 Jan 24. Review.

9.

Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China.

Zhang C, Zhang ZY, Wu JF, Tang XM, Yang XQ, Jiang LP, Zhao XD.

World J Pediatr. 2013 Feb;9(1):42-7. doi: 10.1007/s12519-011-0330-4. Epub 2011 Nov 21.

PMID:
22105576
10.

Insertion sites in engrafted cells cluster within a limited repertoire of genomic areas after gammaretroviral vector gene therapy.

Deichmann A, Brugman MH, Bartholomae CC, Schwarzwaelder K, Verstegen MM, Howe SJ, Arens A, Ott MG, Hoelzer D, Seger R, Grez M, Hacein-Bey-Abina S, Cavazzana-Calvo M, Fischer A, Paruzynski A, Gabriel R, Glimm H, Abel U, Cattoglio C, Mavilio F, Cassani B, Aiuti A, Dunbar CE, Baum C, Gaspar HB, Thrasher AJ, von Kalle C, Schmidt M, Wagemaker G.

Mol Ther. 2011 Nov;19(11):2031-9. doi: 10.1038/mt.2011.178. Epub 2011 Aug 23.

11.

Gene therapy for primary adaptive immune deficiencies.

Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M.

J Allergy Clin Immunol. 2011 Jun;127(6):1356-9. doi: 10.1016/j.jaci.2011.04.030. Review.

PMID:
21624615
12.

Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Lee PP, Chan KW, Chen TX, Jiang LP, Wang XC, Zeng HS, Chen XY, Liew WK, Chen J, Chu KM, Chan LL, Shek L, Lee AC, Yu HH, Li Q, Xu CG, Sultan-Ugdoracion G, Latiff ZA, Latiff AH, Jirapongsananuruk O, Ho MH, Lee TL, Yang XQ, Lau YL.

J Clin Immunol. 2011 Apr;31(2):281-96. doi: 10.1007/s10875-010-9489-z. Epub 2010 Dec 24.

PMID:
21184155
13.

Newborn screening for T-cell deficiency.

Chase NM, Verbsky JW, Routes JM.

Curr Opin Allergy Clin Immunol. 2010 Dec;10(6):521-5. doi: 10.1097/ACI.0b013e32833fd6fe. Review.

PMID:
20864885
14.

Efficacy of gene therapy for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, Rieux-Laucat F, Latour S, Belohradsky BH, Leiva L, Sorensen R, Debré M, Casanova JL, Blanche S, Durandy A, Bushman FD, Fischer A, Cavazzana-Calvo M.

N Engl J Med. 2010 Jul 22;363(4):355-64. doi: 10.1056/NEJMoa1000164.

15.

Rotavirus vaccine induced diarrhea in a child with severe combined immune deficiency.

Werther RL, Crawford NW, Boniface K, Kirkwood CD, Smart JM.

J Allergy Clin Immunol. 2009 Sep;124(3):600. doi: 10.1016/j.jaci.2009.07.005. Epub 2009 Aug 5. No abstract available.

PMID:
19660805
16.

Development of a routine newborn screening protocol for severe combined immunodeficiency.

Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, Cogley MF, Litsheim TJ, Katcher ML, Routes JM.

J Allergy Clin Immunol. 2009 Sep;124(3):522-7. doi: 10.1016/j.jaci.2009.04.007. Epub 2009 May 31.

PMID:
19482345
17.

Transfusion-associated graft-versus-host disease.

Rühl H, Bein G, Sachs UJ.

Transfus Med Rev. 2009 Jan;23(1):62-71. doi: 10.1016/j.tmrv.2008.09.006. Review.

PMID:
19056035
18.

The hazards of blood transfusion in historical perspective.

Alter HJ, Klein HG.

Blood. 2008 Oct 1;112(7):2617-26. doi: 10.1182/blood-2008-07-077370. Review.

19.

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients.

Howe SJ, Mansour MR, Schwarzwaelder K, Bartholomae C, Hubank M, Kempski H, Brugman MH, Pike-Overzet K, Chatters SJ, de Ridder D, Gilmour KC, Adams S, Thornhill SI, Parsley KL, Staal FJ, Gale RE, Linch DC, Bayford J, Brown L, Quaye M, Kinnon C, Ancliff P, Webb DK, Schmidt M, von Kalle C, Gaspar HB, Thrasher AJ.

J Clin Invest. 2008 Sep;118(9):3143-50. doi: 10.1172/JCI35798.

20.

Development of population-based newborn screening for severe combined immunodeficiency.

Chan K, Puck JM.

J Allergy Clin Immunol. 2005 Feb;115(2):391-8.

PMID:
15696101

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