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

341 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
ADA2 is a lysosomal deoxyadenosine deaminase acting on DNA involved in regulating TLR9-mediated immune sensing of DNA.
Greiner-Tollersrud OK, Krausz M, Boehler V, Polyzou A, Seidl M, Spahiu A, Abdullah Z, Andryka-Cegielski K, Dominick FI, Huebscher K, Goschin A, Smulski CR, Trompouki E, Link R, Ebersbach H, Srinivas H, Marchant M, Sogkas G, Staab D, Vågbø C, Guerini D, Baasch S, Latz E, Hartmann G, Henneke P, Geiger R, Peng XP, Grimbacher B, Bartok E, Alseth I, Warncke M, Proietti M. Greiner-Tollersrud OK, et al. Among authors: grimbacher b. Cell Rep. 2024 Nov 26;43(11):114899. doi: 10.1016/j.celrep.2024.114899. Epub 2024 Oct 22. Cell Rep. 2024. PMID: 39441717 Free article.
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry.
Rojas-Restrepo J, Sindram E, Zenke S, Haberstroh H, Mitsuiki N, Gabrysch A, Huebscher K, Posadas-Cantera S, Krausz M, Kobbe R, Rohr JC, Grimbacher B, Gamez-Diaz L. Rojas-Restrepo J, et al. Among authors: grimbacher b. J Clin Immunol. 2023 Nov;43(8):2090. doi: 10.1007/s10875-023-01596-3. J Clin Immunol. 2023. PMID: 37812314 Free PMC article. No abstract available.
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, de Oteyza ACG, Proietti M, Bavani MS, Shariat M, Fallahpour M, Movahedi M, Moradi L, Grimbacher B, Bahram S, Pourpak Z. Alizadeh Z, et al. Among authors: grimbacher b. Genes Immun. 2023 Aug;24(4):207-214. doi: 10.1038/s41435-023-00215-w. Epub 2023 Jul 29. Genes Immun. 2023. PMID: 37516813
Efficacy of dupilumab for the treatment of severe skin disease in cytotoxic T lymphocyte antigen-4 insufficiency: A role of type 2 inflammation?
Arruda LK, Cordeiro DL, Langer SS, Koenigham-Santos M, Calado RT, Dias MM, Anhesini LR, Oliveira JB, Grimbacher B, Ferriani MPL. Arruda LK, et al. Among authors: grimbacher b. J Allergy Clin Immunol Glob. 2022 Sep 22;2(1):114-117. doi: 10.1016/j.jacig.2022.08.004. eCollection 2023 Feb. J Allergy Clin Immunol Glob. 2022. PMID: 37780100 Free PMC article.
Bruton's tyrosine kinase (BTK) and matrix metalloproteinase-9 (MMP-9) regulate NLRP3 inflammasome-dependent cytokine and neutrophil extracellular trap responses in primary neutrophils.
Leal VNC, Bork F, Mateo Tortola M, von Guilleaume JC, Greve CL, Bugl S, Danker B, Bittner ZA, Grimbacher B, Pontillo A, Weber ANR. Leal VNC, et al. Among authors: grimbacher b. J Allergy Clin Immunol. 2024 Nov 14:S0091-6749(24)01186-2. doi: 10.1016/j.jaci.2024.10.035. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39547282 Free article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
341 results