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Marita Bosticardo

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Articles 77
Citations 1996
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Recent Articles
1.
Bosticardo M, Dobbs K, Delmonte O, Martins A, Pala F, Kawai T, et al.
Sci Immunol . 2025 Jan; 10(103):eadq1697. PMID: 39792639
Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the...
2.
Kuehn H, Bosticardo M, Arrieta A, Stoddard J, Pala F, Niemela J, et al.
J Allergy Clin Immunol . 2024 Dec; PMID: 39734035
Background: Heterozygous immunoproteasome 20 S subunit beta 10 (PSMB10) mutations can cause severe combined immunodeficiency and Omenn syndrome. Hematopoietic stem cell transplantation in these patients is associated with severe complications...
3.
Yayon N, Kedlian V, Boehme L, Suo C, Wachter B, Beuschel R, et al.
Nature . 2024 Nov; 635(8039):708-718. PMID: 39567784
T cells develop from circulating precursor cells, which enter the thymus and migrate through specialized subcompartments that support their maturation and selection. In humans, this process starts in early fetal...
4.
Gall A, Bosticardo M, Ma S, Chen K, Amini K, Pala F, et al.
Front Immunol . 2024 Oct; 15:1438383. PMID: 39364398
Pathogenic variants in the transcription factor are associated with clinically overlapping syndromes including ectrodactyly-ectodermal dysplasia clefting (EEC) and ankyloblepharon-ectodermal defects-cleft lip/palate (AEC). T cell lymphopenia has rarely been described in...
5.
Mehta S, Bosticardo M, Notarangelo L, Kitcharoensakkul M
J Clin Immunol . 2024 Aug; 44(8):188. PMID: 39215781
No abstract available.
6.
Pala F, Notarangelo L, Bosticardo M
J Exp Med . 2024 Aug; 221(10). PMID: 39167072
Recent technological advances have transformed our understanding of the human thymus. Innovations such as high-resolution imaging, single-cell omics, and organoid cultures, including thymic epithelial cell (TEC) differentiation and culture, and...
7.
Materna M, Delmonte O, Bosticardo M, Momenilandi M, Conrey P, Charmeteau-De Muylder B, et al.
Science . 2024 Feb; 383(6686):eadh4059. PMID: 38422122
We describe humans with rare biallelic loss-of-function variants impairing pre-α T cell receptor (pre-TCRα) expression. Low circulating naive αβ T cell counts at birth persisted over time, with normal memory...
8.
Castiello M, Brandas C, Ferrari S, Porcellini S, Sacchetti N, Canarutto D, et al.
Sci Transl Med . 2024 Feb; 16(733):eadh8162. PMID: 38324638
Recombination activating genes () are tightly regulated during lymphoid differentiation, and their mutations cause a spectrum of severe immunological disorders. Hematopoietic stem and progenitor cell (HSPC) transplantation is the treatment...
9.
Delmonte O, Oguz C, Dobbs K, Myint-Hpu K, Palterer B, Abers M, et al.
J Allergy Clin Immunol . 2023 Dec; 153(6):1655-1667. PMID: 38154666
Background: Functional T-cell responses are essential for virus clearance and long-term protection after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, whereas certain clinical factors, such as older age and...
10.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, et al.
Front Immunol . 2023 Dec; 14:1303251. PMID: 38116000
Introduction: Mulibrey nanism (MUL) is a rare disorder caused by gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an increased risk of Wilms' tumor. Although...