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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G; COVID Human Genetic Effort; Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarström L, Pan-Hammarström Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL. Zhang Q, et al. Among authors: delafontaine s. J Exp Med. 2022 Aug 1;219(8):e20220131. doi: 10.1084/jem.20220131. Epub 2022 Jun 16. J Exp Med. 2022. PMID: 35708626 Free PMC article.
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation.
Bucciol G, Pillay B, Casas-Martin J, Delafontaine S, Proesmans M, Lorent N, Coolen J, Tousseyn T, Bossuyt X, Ma CS, Schrijvers R, Tangye SG, Moens L, Meyts I. Bucciol G, et al. Among authors: delafontaine s. J Clin Immunol. 2020 May;40(4):567-570. doi: 10.1007/s10875-020-00742-5. Epub 2020 Jan 18. J Clin Immunol. 2020. PMID: 31953712 No abstract available.
Diagnosis of deficiency of adenosine deaminase type 2 in adulthood.
Betrains A, Staels F, Moens L, Delafontaine S, Hershfield MS, Blockmans D, Liston A, Humblet-Baron S, Meyts I, Schrijvers R, Vanderschueren S. Betrains A, et al. Among authors: delafontaine s. Scand J Rheumatol. 2021 Nov;50(6):493-496. doi: 10.1080/03009742.2021.1881156. Epub 2021 Feb 25. Scand J Rheumatol. 2021. PMID: 33627040 No abstract available.
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
Sancho-Shimizu V, Brodin P, Cobat A, Biggs CM, Toubiana J, Lucas CL, Henrickson SE, Belot A; MIS-C@CHGE; Tangye SG, Milner JD, Levin M, Abel L, Bogunovic D, Casanova JL, Zhang SY. Sancho-Shimizu V, et al. J Exp Med. 2021 Jun 7;218(6):e20210446. doi: 10.1084/jem.20210446. J Exp Med. 2021. PMID: 33904890 Free PMC article. Review.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
Yap JY, Moens L, Lin MW, Kane A, Kelleher A, Toong C, Wu KHC, Sewell WA, Phan TG, Hollway GE, Enthoven K, Gray PE, Casas-Martin J, Wouters C, De Somer L, Hershfield M, Bucciol G, Delafontaine S, Ma CS, Tangye SG, Meyts I. Yap JY, et al. Among authors: delafontaine s. J Clin Immunol. 2021 Nov;41(8):1915-1935. doi: 10.1007/s10875-021-01141-0. Epub 2021 Oct 17. J Clin Immunol. 2021. PMID: 34657246 Free PMC article.
Pathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia.
Bucciol G, Desmet L; Leuven Laboratory of Inborn Errors of Immunity; Corveleyn A, Meyts I. Bucciol G, et al. J Clin Immunol. 2022 Feb;42(2):430-432. doi: 10.1007/s10875-021-01172-7. Epub 2021 Nov 23. J Clin Immunol. 2022. PMID: 34813006 Free PMC article. No abstract available.
ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis.
Ehlers L, Bucciol G; KU Leuven - UZA DADA2 team; Beysen D, Meyts I. Ehlers L, et al. J Clin Immunol. 2023 Apr;43(3):536-539. doi: 10.1007/s10875-022-01413-3. Epub 2022 Dec 6. J Clin Immunol. 2023. PMID: 36472692 Free PMC article. No abstract available.
18 results