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L D Notarangelo

Explore the profile of L D Notarangelo including associated specialties, affiliations and a list of published articles. Areas
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Articles 165
Citations 4156
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Recent Articles
1.
Guarina A, Farruggia P, Mariani E, Saracco P, Barone A, Onofrillo D, et al.
Blood Cells Mol Dis . 2024 Jun; 108():102860. PMID: 38889660
Acquired aplastic anemia (AA) is a rare heterogeneous disorder characterized by pancytopenia and hypoplastic bone marrow. The incidence is 2-3 per million population per year in the Western world, but...
2.
Munaretto V, Corti P, Bertoni E, Tripodi S, Guerzoni M, Cesaro S, et al.
Br J Haematol . 2023 Sep; 204(3):1061-1066. PMID: 37671902
Acute chest syndrome (ACS) is a frequent cause of hospitalization in sickle cell disease (SCD). Despite advances in acute care, many settings still lack knowledge about ACS best practices. After...
3.
Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, et al.
Blood . 2022 Oct; 141(7):713-724. PMID: 36279417
Patients with hypomorphic mutations in the RAG1 or RAG2 gene present with either Omenn syndrome or atypical combined immunodeficiency with a wide phenotypic range. Hematopoietic stem cell transplantation (HSCT) is...
4.
Cattaneo C, Cancelli V, Imberti L, Dobbs K, Sottini A, Pagani C, et al.
Blood Cancer J . 2021 Sep; 11(9):151. PMID: 34521813
The ability of patients with hematologic malignancies (HM) to develop an effective humoral immune response after COVID-19 is unknown. A prospective study was performed to monitor the immune response to...
5.
Ott de Bruin L, Bosticardo M, Barbieri A, Lin S, Rowe J, Poliani P, et al.
Blood . 2018 May; 132(3):281-292. PMID: 29743177
Hypomorphic mutations allowing residual T- and B-cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI) and abnormalities of the peripheral T-...
6.
Robinette M, Cella M, Telliez J, Ulland T, Barrow A, Capuder K, et al.
Mucosal Immunol . 2017 May; 11(1):50-60. PMID: 28513593
Loss-of-function mutations in the tyrosine kinase JAK3 cause autosomal recessive severe combined immunodeficiency (SCID). Defects in this form of SCID are restricted to the immune system, which led to the...
7.
Clemente N, Boggio E, Gigliotti C, Orilieri E, Cappellano G, Toth E, et al.
Genes Immun . 2015 Jan; 16(2):151-61. PMID: 25569260
Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes a heterozygous...
8.
Bacchetta R, Notarangelo L
Front Immunol . 2013 May; 4:77. PMID: 23630524
No abstract available.
9.
Hernandez-Trujillo H, Chapel H, Lo Re 3rd V, Notarangelo L, Gathmann B, Grimbacher B, et al.
Clin Exp Immunol . 2012 Jun; 169(1):57-69. PMID: 22670779
Primary immunodeficiency diseases (PIDs) comprise a heterogeneous group of rare disorders. This study was devised in order to compare management of these diseases in the northern hemisphere, given the variability...
10.
Chiarini M, Sabelli C, Melotti P, Garlanda C, Savoldi G, Mazza C, et al.
Genes Immun . 2010 Oct; 11(8):665-70. PMID: 20927127
Cystic fibrosis (CF) is a common life-threatening autosomal recessive disorder in the Caucasian population, and the gene responsible is the CF transmembrane conductance regulator (CFTR). Patients with CF have repeated...