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Luigi Notarangelo

Explore the profile of Luigi Notarangelo including associated specialties, affiliations and a list of published articles. Areas
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Articles 45
Citations 1629
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Recent Articles
21.
Ott de Bruin L, Yang W, Capuder K, Lee Y, Antolini M, Meyers R, et al.
Oncotarget . 2016 Feb; 7(11):12962-74. PMID: 26887046
Mutations in the Recombination Activating Gene 1 (RAG1) can cause a wide variety of clinical and immunological phenotypes in humans, ranging from absence of T and B lymphocytes to occurrence...
22.
Lafaille F, Ciancanelli M, Studer L, Smith G, Notarangelo L, Casanova J, et al.
Front Immunol . 2015 May; 6:208. PMID: 26005444
Herpes simplex virus 1 (HSV-1) is a common virus that can rarely invade the human central nervous system (CNS), causing devastating encephalitis. The permissiveness to HSV-1 of the various relevant...
23.
de Ravin S, Parta M, Sutton D, Wickes B, Thompson E, Wiederhold N, et al.
J Clin Microbiol . 2014 May; 52(7):2726-9. PMID: 24829241
We describe a case of paravertebral abscess caused by a Phellinus sp. in a boy with chronic granulomatous disease. Sequence-based identification of this mold, a new agent of disease, suggests...
24.
Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, et al.
Blood . 2012 Jul; 120(17):3615-24. PMID: 22791287
Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on...
25.
Al-Herz W, Ragupathy R, Massaad M, Al-Attiyah R, Nanda A, Engelhardt K, et al.
Clin Immunol . 2012 Apr; 143(3):266-72. PMID: 22534316
Deficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National...
26.
Wang H, Gopalan V, Aksentijevich I, Yeager M, Ma C, Mohamoud Y, et al.
Hum Mutat . 2010 Jul; 31(9):1080-8. PMID: 20652909
Hyper-IgM syndrome and Common Variable Immunodeficiency are heterogeneous disorders characterized by a predisposition to serious infection and impaired or absent neutralizing antibody responses. Although a number of single gene defects...
27.
Mooster J, Cancrini C, Simonetti A, Rossi P, Di Matteo G, Romiti M, et al.
J Allergy Clin Immunol . 2010 Jun; 126(1):127-32.e7. PMID: 20542322
Background: Nuclear factor-kappaB (NF-kappaB) is a key transcription factor that regulates both innate and adaptive immunity as well as ectodermal development. Mutations in the coding region of the IkappaB kinase...
28.
Diamond B, Cunningham-Rundles C, Fischer A, Geha R, Notarangelo L, Ochs H, et al.
J Allergy Clin Immunol . 2010 Jan; 125(2):506. PMID: 20042229
No abstract available.
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Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, et al.
N Engl J Med . 2009 Jan; 360(5):447-58. PMID: 19179314
Background: We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency....