David B Beck
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Explore the profile of David B Beck including associated specialties, affiliations and a list of published articles.
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65
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2323
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Recent Articles
1.
Simchoni N, Koide S, Likhite M, Kuchitsu Y, Kadirvel S, Law C, et al.
J Exp Med
. 2025 Feb;
222(4).
PMID: 40014299
COPA syndrome, an autosomal-dominant inborn error of immunity, is nonpenetrant in ∼20% of individuals, with no known mediators of protection. Recent studies implicate STING in the pathogenesis of COPA syndrome....
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Creignou M, Sirenko M, Moura P, Mortera-Blanco T, Dimitriou M, Sander B, et al.
Ann Intern Med
. 2025 Jan;
178(2):300-304.
PMID: 39832370
No abstract available.
4.
Torreggiani S, Castellan F, Aksentijevich I, Beck D
Nat Rev Rheumatol
. 2024 Oct;
20(11):683-698.
PMID: 39394526
Somatic mutations (also known as acquired mutations) are emerging as common, age-related processes that occur in all cells throughout the body. Somatic mutations are canonically linked to malignant processes but...
5.
Czech M, Cuellar-Rodriguez J, Patel B, Groarke E, Cowen E, Turturice B, et al.
Open Forum Infect Dis
. 2024 Jul;
11(7):ofae405.
PMID: 39077052
Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a genetic disorder characterized by bone marrow failure and systemic inflammation, putting patients at risk for infections. This study comprehensively...
6.
J Tan I, Ferrada M, Ahmad S, Fike A, Quinn K, Groarke E, et al.
JAMA Dermatol
. 2024 Jun;
160(8):822-829.
PMID: 38865133
Importance: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined genetic disease with an estimated prevalence of 1 in 4269 men older than 50 years and is...
7.
Sirenko M, Bernard E, Creignou M, Domenico D, Farina A, Arango Ossa J, et al.
Blood
. 2024 Apr;
144(11):1221-1229.
PMID: 38687605
Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence...
8.
Oda H, Manthiram K, Pimpale Chavan P, Rieser E, Veli O, Kaya O, et al.
Nat Immunol
. 2024 Apr;
25(5):764-777.
PMID: 38609546
The linear ubiquitin assembly complex (LUBAC) consists of HOIP, HOIL-1 and SHARPIN and is essential for proper immune responses. Individuals with HOIP and HOIL-1 deficiencies present with severe immunodeficiency, autoinflammation...
9.
Ospina Cardona D, Rodriguez-Pinto I, Iosim S, Bonet N, Mensa-Vilaro A, Wong M, et al.
Rheumatology (Oxford)
. 2024 Mar;
63(10):2897-2902.
PMID: 38552317
Objective: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations...
10.
Collins J, Magaziner S, English M, Hassan B, Chen X, Balanda N, et al.
EMBO J
. 2024 Feb;
43(10):1919-1946.
PMID: 38360993
Most cellular ubiquitin signaling is initiated by UBA1, which activates and transfers ubiquitin to tens of E2 enzymes. Clonally acquired UBA1 missense mutations cause an inflammatory-hematologic overlap disease called VEXAS...