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

100 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. Rigaud S, et al. Among authors: revy p. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Nature. 2006. PMID: 17080092
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Moshous D, Martin E, Carpentier W, Lim A, Callebaut I, Canioni D, Hauck F, Majewski J, Schwartzentruber J, Nitschke P, Sirvent N, Frange P, Picard C, Blanche S, Revy P, Fischer A, Latour S, Jabado N, de Villartay JP. Moshous D, et al. Among authors: revy p. J Allergy Clin Immunol. 2013 Jun;131(6):1594-603. doi: 10.1016/j.jaci.2013.01.042. Epub 2013 Mar 21. J Allergy Clin Immunol. 2013. PMID: 23522482
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. Among authors: revy p. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 Free PMC article.
100 results