Cargando…

A Family with a Novel CTLA4 Haploinsufficiency Mutation and Neurological Symptoms

Detalles Bibliográficos
Autores principales:	Grammatikos, Alexandros, Johnston, Sarah, Rice, Claire M., Gompels, Mark
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2021
Materias:	Letter to Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8310858/ https://www.ncbi.nlm.nih.gov/pubmed/33956248 http://dx.doi.org/10.1007/s10875-021-01027-1

Ejemplares similares

CNS demyelination associated with immune dysregulation and a novel CTLA-4 variant
por: Kaninia, Stefania, et al.
Publicado: (2021)

Two neurologic facets of CTLA4-related haploinsufficiency
por: Ayrignac, Xavier, et al.
Publicado: (2020)

Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir
por: Grammatikos, Alexandros, et al.
Publicado: (2022)

Peripheral B Cell Deficiency and Predisposition to Viral Infections: The Paradigm of Immune Deficiencies
por: Grammatikos, Alexandros, et al.
Publicado: (2021)

A case of autoimmune enteropathy with CTLA4 haploinsufficiency
por: Miyazaki, Haruka, et al.
Publicado: (2022)

Low circulating B cells in immunocompromised individuals are linked to poorer antibody responses to vaccines and a predisposition to viral infections
por: Grammatikos, Alexandros, et al.
Publicado: (2022)

COVID-19 vaccine allergy advice and guidance: The experience of a UK tertiary referral centre()
por: Moghaddas, Fiona, et al.
Publicado: (2023)

The role of CTLA-4 in immune regulation
por: Verhagen, Johan, et al.
Publicado: (2008)

Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency
por: Watson, Leisa Rebecca, et al.
Publicado: (2018)

Granulomatous interstitial nephritis with CTLA-4 haploinsufficiency: a case report
por: Kohatsu, Kaori, et al.
Publicado: (2022)

Prolonged Disease Course of COVID-19 in a Patient with CTLA-4 Haploinsufficiency
por: Hoffman, T. W., et al.
Publicado: (2023)

Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity
por: Lim, Xin Rong, et al.
Publicado: (2023)

Genetic basis of myeloid transformation in familial platelet disorder/acute myeloid leukemia patients with haploinsufficient RUNX1 allele
por: Sakurai, M, et al.
Publicado: (2016)

Potential neurological symptoms of COVID-19
por: Wang, Hai-Yang, et al.
Publicado: (2020)

MON-155 A Patient with Acquired Generalized Lipodystrophy (AGL, Lawrence Syndrome) in Association with CTLA-4 Haploinsufficiency
por: Ozer, Muhammet, et al.
Publicado: (2019)

CTLA4 polymorphism and primary Sjögren's syndrome
por: Lester, Susan, et al.
Publicado: (2007)

Haploinsufficiency of Bcl11b suppresses the progression of ATM-deficient T cell lymphomas
por: Pinkney, Kerice A., et al.
Publicado: (2015)

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
por: Luperchio, Teresa Romeo, et al.
Publicado: (2019)

Cerebrospinal fluid findings in COVID-19 patients with neurological symptoms
por: Neumann, Bernhard, et al.
Publicado: (2020)

Neurological symptoms in a case of acute aortic dissection
por: Zamilute, Igor Aloísio Garcez, et al.
Publicado: (2016)

CTLA-4 Haploinsufficiency Presenting as Extensive Enteropathy in a Patient With Very Early Onset Inflammatory Bowel Disease
por: Tran, Ngoc N., et al.
Publicado: (2021)

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria
por: Tucci, Sara
Publicado: (2020)

Familial Spastic Paraparesis: A Novel Mutation in a 4-Year-Old Girl
por: Singanamalla, Bhanudeep, et al.
Publicado: (2020)

Monilethrix: A New Family with the Novel Mutation in KRT81 Gene
por: Ferrando, Juan, et al.
Publicado: (2012)

Potential neurologic and oncologic implications of the novel coronavirus
por: Aaroe, Ashley Elimar, et al.
Publicado: (2020)

Do not misjudge the neurological nature of psychiatric symptoms following COVID-19 vaccinations
por: Finsterer, Josef
Publicado: (2022)

Endoscopic variceal ligation in children with extrahepatic portal vein thrombosis: long-term follow up of 2 cases
por: Giouleme, Olga, et al.
Publicado: (2015)

A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein–Barr virus-positive diffuse large B-cell lymphoma
por: Yuan, Hepei, et al.
Publicado: (2021)

Epigenetic modifications of the immune-checkpoint genes CTLA4 and PDCD1 in non-small cell lung cancer results in increased expression
por: Marwitz, Sebastian, et al.
Publicado: (2017)

Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome
por: Park, Soyoung, et al.
Publicado: (2023)

LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family
por: Nunes, D, et al.
Publicado: (2016)

Comment on ‘Efficacy and toxicity of treatment with the anti-CTLA-4 antibody ipilimumab in patients with metastatic melanoma after prior anti-PD-1 therapy'
por: Imafuku, Keisuke, et al.
Publicado: (2017)

Report of a patient with neurological symptoms as the sole manifestation of SARS-CoV-2 infection()
por: Escalada Pellitero, S., et al.
Publicado: (2020)

Why Did the Patient Not Show Any Neurological Symptoms on the Day of the Higher Serum Concentration of Ceftriaxone?
por: Fukuchi, Takahiko, et al.
Publicado: (2019)

CTLA-4 polymorphism and primary Sjögren's syndrome: authors' response
por: Miceli-Richard, Corinne, et al.
Publicado: (2007)

IRF4 haploinsufficiency in a family with Whipple’s disease
por: Guérin, Antoine, et al.
Publicado: (2018)

A Novel Missense Mutation of Keratin 17 Gene in a Chinese Family with Steatocystoma Multiplex
por: Ha, Wei-Wei, et al.
Publicado: (2013)

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations
por: Han, Ji Yeon, et al.
Publicado: (2020)

The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
por: Chung, Eun Joo, et al.
Publicado: (2022)

Novel MEI1 compound heterozygous mutation in a sporadic family associated with spermatogenetic failure
por: Chen, Jie, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_6npeass5o78b17qv6i2qcjbbk8