Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

199 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. Kreins AY, et al. Among authors: rosenzweig sd. J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24. J Exp Med. 2015. PMID: 26304966 Free PMC article.
Mycobacterial diseases in primary immunodeficiencies.
Reichenbach J, Rosenzweig S, Döffinger R, Dupuis S, Holland SM, Casanova JL. Reichenbach J, et al. Curr Opin Allergy Clin Immunol. 2001 Dec;1(6):503-11. doi: 10.1097/00130832-200112000-00003. Curr Opin Allergy Clin Immunol. 2001. PMID: 11964733 Review.
Phagocyte immunodeficiencies and their infections.
Rosenzweig SD, Holland SM. Rosenzweig SD, et al. J Allergy Clin Immunol. 2004 Apr;113(4):620-6. doi: 10.1016/j.jaci.2004.02.001. J Allergy Clin Immunol. 2004. PMID: 15100664 Review.
Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM. Dorman SE, et al. Among authors: rosenzweig sd. Lancet. 2004 Dec 11-17;364(9451):2113-21. doi: 10.1016/S0140-6736(04)17552-1. Lancet. 2004. PMID: 15589309
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vrátnica C, Haerynck F, Rosenzweig SD. Yancoski J, et al. Among authors: rosenzweig sd. Infect Genet Evol. 2009 Jul;9(4):574-80. doi: 10.1016/j.meegid.2009.02.010. Epub 2009 Mar 9. Infect Genet Evol. 2009. PMID: 19460324 Free PMC article.
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, Keser M,… See abstract for full author list ➔ de Beaucoudrey L, et al. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
A novel internalization motif regulates human IFN-γ R1 endocytosis.
Yancoski J, Sadat MA, Aksentijevich N, Bernasconi A, Holland SM, Rosenzweig SD. Yancoski J, et al. Among authors: rosenzweig sd. J Leukoc Biol. 2012 Aug;92(2):301-8. doi: 10.1189/jlb.0212057. Epub 2012 May 17. J Leukoc Biol. 2012. PMID: 22595141 Free PMC article.
199 results