Cargando…

Urogenital Abnormalities in Adenosine Deaminase Deficiency

BACKGROUND: Improved survival in ADA-SCID patients is revealing new aspects of the systemic disorder. Although increasing numbers of reports describe the systemic manifestations of adenosine deaminase deficiency, currently there are no studies in the literature evaluating genital development and pub...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pajno, Roberta, Pacillo, Lucia, Recupero, Salvatore, Cicalese, Maria P., Ferrua, Francesca, Barzaghi, Federica, Ricci, Silvia, Marzollo, Antonio, Pecorelli, Silvia, Azzari, Chiara, Finocchi, Andrea, Cancrini, Caterina, Di Matteo, Gigliola, Russo, Gianni, Alfano, Massimo, Lesma, Arianna, Salonia, Andrea, Adams, Stuart, Booth, Claire, Aiuti, Alessandro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253380/ https://www.ncbi.nlm.nih.gov/pubmed/32307643 http://dx.doi.org/10.1007/s10875-020-00777-8

Ejemplares similares

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature
por: Migliavacca, Maddalena, et al.
Publicado: (2018)

Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety
por: Cicalese, Maria Pia, et al.
Publicado: (2018)

Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis
por: Tucci, Francesca, et al.
Publicado: (2018)

Autoimmune Dysregulation and Purine Metabolism in Adenosine Deaminase Deficiency
por: Sauer, Aisha Vanessa, et al.
Publicado: (2012)

Third cranial nerve palsy in an 88-year-old man after SARS-CoV-2 mRNA vaccination: change of injection site and type of vaccine resulted in an uneventful second dose with humoral immune response
por: Cicalese, Maria Pia, et al.
Publicado: (2022)

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network
por: Cirillo, Emilia, et al.
Publicado: (2019)

JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long‐known gene
por: Di Matteo, Gigliola, et al.
Publicado: (2018)

Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency
por: Barzaghi, Federica, et al.
Publicado: (2022)

Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report
por: Di Lorenzo, Biagio, et al.
Publicado: (2022)

SARS‐CoV‐2 infection and treatment in a cohort of patients with inborn errors of immunity
por: Conti, Francesca, et al.
Publicado: (2022)

A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation
por: Consiglieri, Giulia, et al.
Publicado: (2021)

Adenosine-Metabolizing Enzymes, Adenosine Kinase and Adenosine Deaminase, in Cancer
por: Zhulai, Galina, et al.
Publicado: (2022)

Adenosine deaminase activity in leukaemia.
por: Smyth, J. F., et al.
Publicado: (1975)

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
por: Cifaldi, Cristina, et al.
Publicado: (2019)

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies
por: Cifaldi, Cristina, et al.
Publicado: (2019)

Neutropenia in patients with adenosine deaminase deficiency
por: Kim, Vy HD, et al.
Publicado: (2014)

Adenosine deaminase in exudative pleural effusions
por: Wiwanitkit, Somsri, et al.
Publicado: (2014)

Adenosine deaminase deficiency: a review
por: Flinn, Aisling M., et al.
Publicado: (2018)

Adenosine deaminase and adenosine kinase in rat hepatomas and kidney tumours.
por: Jackson, R. C., et al.
Publicado: (1978)

A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease
por: Migliavacca, Maddalena, et al.
Publicado: (2022)

Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach
por: Zervou, Maria I., et al.
Publicado: (2020)

Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach
por: Zervou, Maria I., et al.
Publicado: (2021)

Performance of the quantification of adenosine deaminase and determination of the lactate dehydrogenase/adenosine deaminase ratio for the diagnosis of pleural tuberculosis in children and adolescents
por: Vieira, Julia Lima, et al.
Publicado: (2021)

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
por: Hashem, Hasan, et al.
Publicado: (2021)

Serum adenosine deaminase activity in cutaneous anthrax
por: Sunnetcioglu, Mahmut, et al.
Publicado: (2014)

Validity of serum adenosine deaminase in diagnosis of tuberculosis
por: Farazi, Aliasghar, et al.
Publicado: (2013)

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up
por: Sarli, Walter Maria, et al.
Publicado: (2023)

Heterozygous Mutation in Adenosine Deaminase Gene in a Patient With Severe Lymphopenia Following Corticosteroid Treatment of Autoimmune Hemolytic Anemia
por: Tripodi, Serena I., et al.
Publicado: (2018)

Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
por: Hashem, Hasan, et al.
Publicado: (2022)

Wiskott–Aldrich syndrome: Oral findings and microbiota in children and review of the literature
por: Lucchese, Alessandra, et al.
Publicado: (2022)

A Role for Adenosine Deaminase in Drosophila Larval Development
por: Dolezal, Tomas, et al.
Publicado: (2005)

Adenosine Deaminase Levels in CSF of Tuberculous Meningitis Patients
por: Gupta, Bharat Kumar, et al.
Publicado: (2010)

Adenosine Deaminase (ADA) Level in Tubercular Pleural Effusion
por: Verma, S.K., et al.
Publicado: (2008)

Diagnostic utility of adenosine deaminase in exudative pleural effusions
por: Mehta, Asmita A., et al.
Publicado: (2014)

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
por: Joshi, Avni Y., et al.
Publicado: (2012)

Adenosine Deaminase Deficiency – More Than Just an Immunodeficiency
por: Whitmore, Kathryn V., et al.
Publicado: (2016)

Therapeutic Perspectives of Adenosine Deaminase Inhibition in Cardiovascular Diseases
por: Kutryb-Zajac, Barbara, et al.
Publicado: (2020)

Diversity of adenosine deaminase in children with EBV-related diseases
por: Shi, Ting, et al.
Publicado: (2022)

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection
por: Brigida, Immacolata, et al.
Publicado: (2016)

Adenosine deaminase and adenosine kinase expression in human glioma and their correlation with glioma-associated epilepsy
por: HUANG, JUN, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_hq5l97bq6r3839d3ij42tgm6hn