Cargando…

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

DNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase...

Descripción completa

Detalles Bibliográficos
Autores principales:	Castro, Ana Costa e, Maia, Raquel, Batalha, Sara, Freixo, João Parente, Martins, Catarina, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9111885/ https://www.ncbi.nlm.nih.gov/pubmed/35592332 http://dx.doi.org/10.3389/fimmu.2022.869728

Ejemplares similares

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment
por: Simão Raimundo, Diana, et al.
Publicado: (2023)

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome
por: Padeira, Gonçalo Luzes, et al.
Publicado: (2021)

Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
por: Coelho, Pedro Simão, et al.
Publicado: (2022)

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis
por: Rebelo, Mafalda, et al.
Publicado: (2019)

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa
por: Neves, João Farela, et al.
Publicado: (2018)

Precision medicine: The use of tailored therapy in primary immunodeficiencies
por: Pinto, Marta Valente, et al.
Publicado: (2022)

Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency
por: Bacalhau, Sílvia, et al.
Publicado: (2011)

Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series
por: Almeida, Fabiana Tolentino, et al.
Publicado: (2014)

ODP204 Hemochromatosis and endocrine dysfunctions – a case report
por: Carvalho, Davide, et al.
Publicado: (2022)

Transient Gerstmann syndrome as manifestation of stroke: Case report and brief literature review
por: João, Rafael Batista, et al.
Publicado: (2017)

Case Report: Alternaria alternata keratitis
por: Leite, João, et al.
Publicado: (2023)

Combined neuraxial-general anesthesia in opsoclonus–myoclonus syndrome: A case report
por: Abreu, João B., et al.
Publicado: (2023)

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation
por: Dabrowska-Leonik, Nel, et al.
Publicado: (2022)

Unilateral Vogt-Koyanagi-Harada Disease: A Clinical Case Report
por: Neves, Arminda, et al.
Publicado: (2015)

Ruptured axillary artery pseudoaneurysm following an anterior glenohumeral dislocation: A case report
por: Rocha Carvalho, Diogo, et al.
Publicado: (2020)

Dysphagia as a manifestation of esophageal tuberculosis: a report of two cases
por: Gomes, Joana, et al.
Publicado: (2011)

Uterine Extramedullary Plasmacytoma as a Primary Manifestation of Multiple Myeloma
por: Codorniz, Ana, et al.
Publicado: (2017)

Concurrent EGFR mutation and ALK rearrangement in stage IV lung adenocarcinoma—a case report and a literature review
por: Cipriano, Élia, et al.
Publicado: (2021)

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
por: Staines Boone, Aidé Tamara, et al.
Publicado: (2019)

JIA-like in a boy with Ataxia-telangiectasia
por: Furtado, Filipa, et al.
Publicado: (2014)

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description
por: Da Silva Cardoso, Juliana, et al.
Publicado: (2023)

Management of Pulp Canal Obliteration—Systematic Review of Case Reports
por: Vinagre, Alexandra, et al.
Publicado: (2021)

Exploring the Ways of “The Great Imitator”: A Case Report of Syphilitic Hepatitis
por: Cunha Neves, João A., et al.
Publicado: (2021)

Extra-pulmonary manifestations of paracoccidioidomycosis associated with acquired immunodeficiency syndrome: a case report
por: Safe, Izabella Picinin, et al.
Publicado: (2014)

Primary Splenic Diffuse Large B-Cell Lymphoma: A Case Report
por: Maia Neves, Nuno, et al.
Publicado: (2023)

Concurrent catatonia and COVID-19 infection in a demented patient: A case report
por: Câmara-Pestana, Pedro, et al.
Publicado: (2022)

Paracoccidioidomycosis and cryptococcosis with localized skin manifestations: report of two cases in the elderly
por: de Oliveira, Ederson Valei Lopes, et al.
Publicado: (2016)

Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly
por: Neves, Arminda, et al.
Publicado: (2016)

Mesenteric inflammatory pseudotumor: A difficult diagnosis. Case report
por: Lopes, Vítor Neves, et al.
Publicado: (2017)

Nonbacterial thrombotic endocarditis as the sole manifestation of stage IV gastric cancer: a case report
por: Shatila, Wassim, et al.
Publicado: (2014)

Lucio's phenomenon: exuberant case report and review of Brazilian cases
por: Rocha, Rafael Henrique, et al.
Publicado: (2016)

Antiphospholipid syndrome: a case report with an unusual wide spectrum of clinical manifestations
por: Mazzoccoli, Carmela, et al.
Publicado: (2019)

Hemichorea-Hemiballism as a Manifestation of Hyperglycemia
por: Maia, Maria, et al.
Publicado: (2021)

Hand, foot, and mouth syndrome in an immunocompetent adult: a case report
por: Flor de Lima, Bárbara, et al.
Publicado: (2013)

Case Report: Pseudoxanthoma elasticum
por: Lucas, Catarina, et al.
Publicado: (2020)

Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature
por: Schober, Sarah, et al.
Publicado: (2019)

DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report
por: Huang, Miao, et al.
Publicado: (2022)

A rare cause of vertebral osteomyelitis: the first case report of rat-bite fever in Portugal
por: Pena, Eduarda, et al.
Publicado: (2019)

Anti-NMDAr Encephalitis and COVID-19 in a Patient With Systemic pANCA-Vasculitis and Recurrent Varicella Zoster Infection
por: Moura, João, et al.
Publicado: (2022)

Malignant pericardial effusion as a primary manifestation of metastatic colon cancer: a case report
por: Neves, Milena Brachmans Mascarenhas, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_nibq7huf4a49ijtq4otq5ji45d