Cargando…

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

BACKGROUND: X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK). CASE DESCRIPTION: We describe a 36‐year‐old male who presented as an infant with hypogammaglobulinemia and sinopulmonary infectio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Srinivasan, Cindy, Shameli, Afshin, Ritchie, Bruce, Adatia, Adil
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Short Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10587732/ https://www.ncbi.nlm.nih.gov/pubmed/37904676 http://dx.doi.org/10.1002/iid3.1049

Ejemplares similares

Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia
por: Kalkat, Amanpreet, et al.
Publicado: (2023)

A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report
por: Han, Shu-Ping, et al.
Publicado: (2019)

A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia
por: Zheng, Bixia, et al.
Publicado: (2014)

A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia
por: Lee, Jeongeun, et al.
Publicado: (2016)

Successful use of lanadelumab in a patient with hereditary angioedema with normal C1 inhibitor and negative genetic testing
por: Adatia, Adil, et al.
Publicado: (2023)

The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement
por: Cavaliere, Filomena Monica, et al.
Publicado: (2017)

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations
por: Gao, Shanshan, et al.
Publicado: (2020)

Acquired BTK mutations associated with resistance to noncovalent BTK inhibitors
por: Qi, Jialei, et al.
Publicado: (2023)

Selection On synonymous Mutations Revealed by 1135 Genomes of Arabidopsis thaliana
por: Wei, Lai
Publicado: (2020)

A Case of Fabry's Disease with Congenital Agammaglobulinemia
por: Lee, Ki-Yeol, et al.
Publicado: (2011)

Mutations of the Igβ gene cause agammaglobulinemia in man
por: Ferrari, Simona, et al.
Publicado: (2007)

Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia: A case report
por: Hu, Xiao-Mei, et al.
Publicado: (2020)

Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia
por: Vu, Quang Van, et al.
Publicado: (2014)

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients
por: Le Coz, Carole, et al.
Publicado: (2021)

Oral management of a patient with down syndrome and agammaglobulinemia: a case report
por: Kusumoto, Yasuka, et al.
Publicado: (2020)

Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report
por: Wong, Yao-Xian, et al.
Publicado: (2022)

Inactivating BTK mutations in large B‐cell lymphoma in a real‐world cohort: Strong correlation with BCL2 translocation
por: Schejbel, Lone, et al.
Publicado: (2022)

X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report
por: Ozturk, Can, et al.
Publicado: (2013)

Bruton's Agammaglobulinemia and COVID-19
por: Hovey, Justin G, et al.
Publicado: (2020)

607 X- Linked Agammaglobulinemia and Moebius Syndrome, First Case Reported
por: Ortega-Cisneros, Margarita, et al.
Publicado: (2012)

X-Linked Agammaglobulinemia Presenting as Neutropenia: Case Report and an Overview of Literature
por: Lanlokun, Mosopefoluwa, et al.
Publicado: (2021)

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase
por: Agrebi, Nourhen, et al.
Publicado: (2021)

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia
por: Chear, Chai Teng, et al.
Publicado: (2023)

Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
por: Condé, Kaba, et al.
Publicado: (2020)

Autism in a Child With X-linked Agammaglobulinemia
por: Bied, Adam, et al.
Publicado: (2022)

Case Report: Kidney Transplantation in a Patient With Acquired Agammaglobulinemia and SLE. Issues and Challenges
por: Pavlakou, Paraskevi, et al.
Publicado: (2021)

Correction: Bruton's Agammaglobulinemia and COVID-19
por: Hovey, Justin G, et al.
Publicado: (2021)

X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature
por: Sigmon, Justin R, et al.
Publicado: (2008)

Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia
por: Yeh, Yu-Hsin, et al.
Publicado: (2020)

Synonymous but Not Equal: A Special Section and Virtual Issue on Phenotypic Effects of Synonymous Mutations
por: McGrath, Casey
Publicado: (2021)

Differential impact of BTK active site inhibitors on the conformational state of full-length BTK
por: Joseph, Raji E, et al.
Publicado: (2020)

A new synonym in the subfamily Thrigmopoeinae Pocock, 1900 (Araneae, Theraphosidae)
por: Sankaran, Pradeep M., et al.
Publicado: (2018)

Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature
por: Hajjar, Joud, et al.
Publicado: (2016)

Streptococcal pneumonia meningitis as an initial presentation of X‐linked agammaglobulinemia: A case report and discussion
por: Kadden, Daniel, et al.
Publicado: (2021)

Two new synonyms in the subfamily Theridiinae (Araneae, Theridiidae)
por: Zhong, Rui, et al.
Publicado: (2022)

BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients
por: Teocchi, Marcelo A, et al.
Publicado: (2015)

Pirtobrutinib targets BTK C481S in ibrutinib-resistant CLL but second-site BTK mutations lead to resistance
por: Naeem, Aishath, et al.
Publicado: (2022)

Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia
por: Tan, Qi, et al.
Publicado: (2017)

A mutation in the promoter region of BTK causes atypical XLA
por: Bravo García-Morato, María, et al.
Publicado: (2020)

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
por: Rawat, Amit, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_3937fn0tvhnv3r3mkvlh8al2sr