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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

706 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. Among authors: cooper ma. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogense… See abstract for full author list ➔ Matuozzo D, et al. Among authors: cooper ma. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
STAT3 gain-of-function syndrome.
Vogel TP, Leiding JW, Cooper MA, Forbes Satter LR. Vogel TP, et al. Among authors: cooper ma. Front Pediatr. 2023 Feb 9;10:770077. doi: 10.3389/fped.2022.770077. eCollection 2022. Front Pediatr. 2023. PMID: 36843887 Free PMC article. Review.
Monoallelic expression can govern penetrance of inborn errors of immunity.
Stewart O, Gruber C, Randolph HE, Patel R, Ramba M, Calzoni E, Huang LH, Levy J, Buta S, Lee A, Sazeides C, Prue Z, Hoytema van Konijnenburg DP, Chinn IK, Pedroza LA, Lupski JR, Schmitt EG, Cooper MA, Puel A, Peng X, Boisson-Dupuis S, Bustamante J, Okada S, Martin-Fernandez M, Orange JS, Casanova JL, Milner JD, Bogunovic D. Stewart O, et al. Among authors: cooper ma. Nature. 2025 Jan 1. doi: 10.1038/s41586-024-08346-4. Online ahead of print. Nature. 2025. PMID: 39743591
Somatic mosaicism in genetic errors of immunity.
Cooper MA. Cooper MA. J Allergy Clin Immunol. 2024 Dec 24:S0091-6749(24)02408-4. doi: 10.1016/j.jaci.2024.11.038. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39724970 Free article. Review.
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.
Duran JSC, Sayed S, Dalalo MC, Mauracher AA, Knight MS, Conrey PE, Schultz AB, Hay CA, Lindell RB, Howard CA, Abrams ED, Schmitt EG, Thelin MA, Bluestein S, Seroogy CM, Pozos TC, Thatayatikom A, Lundgren I, Gauthier A, Canna SW, Su HC, Keller MD, Delmonte OM, Satter LRF, Holland SM, Bergerson JRE, Leiding JW, Romberg N, Freeman AF, Villarino AV, Anderson MS, Cooper MA, Vogel TP, Henrickson SE. Duran JSC, et al. Among authors: cooper ma. bioRxiv [Preprint]. 2024 Dec 13:2024.12.12.626682. doi: 10.1101/2024.12.12.626682. bioRxiv. 2024. PMID: 39713308 Free PMC article. Preprint.
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells.
Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. Rao G, et al. Among authors: cooper ma. J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01283-1. doi: 10.1016/j.jaci.2024.11.031. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39622295
706 results