Cargando…

Arthritis in children with LRBA deficiency – case report and literature review

BACKGROUND: Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, includin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Semo Oz, Rotem, S. Tesher, Melissa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918552/ https://www.ncbi.nlm.nih.gov/pubmed/31847838 http://dx.doi.org/10.1186/s12969-019-0388-4

Ejemplares similares

Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review
por: Mangodt, T. C., et al.
Publicado: (2023)

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
por: Merico, Daniele, et al.
Publicado: (2021)

Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency
por: Boz, Valentina, et al.
Publicado: (2021)

Multifocal gastric adenocarcinoma in a patient with LRBA deficiency
por: Bratanič, Nina, et al.
Publicado: (2017)

LRBA in the endomembrane system
por: Martínez Jaramillo, Catalina, et al.
Publicado: (2018)

Multiple Presentations of LRBA Deficiency: a Single-Center Experience
por: Kostel Bal, Sevgi, et al.
Publicado: (2017)

Understanding the Mechanism of Diabetes Mellitus in a LRBA-Deficient Patient
por: Hawari, Iman, et al.
Publicado: (2022)

Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency
por: Yang, Lu, et al.
Publicado: (2020)

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA
por: Galati, Alessio, et al.
Publicado: (2022)

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
por: Taylan, Christina, et al.
Publicado: (2020)

Severe diabetic ketoacidosis and autoimmune pancreatitis with SIRS in an adolescent with LRBA deficiency – A rare complication of a common primary immunodeficiency disease
por: Ravindran, Divya, et al.
Publicado: (2022)

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease
por: Fabozzi, Francesco, et al.
Publicado: (2022)

LRBA Deficiency Can Lead to Lethal Colitis That Is Diminished by SHIP1 Agonism
por: Sudan, Raki, et al.
Publicado: (2022)

Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation
por: Burnett, Deborah L, et al.
Publicado: (2017)

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome
por: Eren Akarcan, Sanem, et al.
Publicado: (2018)

Agammaglobulinaemia despite terminal B-cell differentiation in a patient with a novel LRBA mutation
por: Al Sukaiti, Nashat, et al.
Publicado: (2017)

Novel compound heterozygous stop‐gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency
por: Phan, Anh N. L., et al.
Publicado: (2020)

Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia
por: Martínez-Jaramillo, Catalina, et al.
Publicado: (2019)

Pyoderma gangrenosum-like ulceration as a presenting feature of pediatric granulomatosis with polyangiitis
por: Oz, Rotem Semo, et al.
Publicado: (2021)

LRBA is Essential for Allogeneic Responses in Bone Marrow Transplantation
por: Park, Mi Young, et al.
Publicado: (2016)

Regulation of CTLA‐4 recycling by LRBA and Rab11
por: Janman, Daniel, et al.
Publicado: (2021)

LRBA is essential for urinary concentration and body water homeostasis
por: Hara, Yu, et al.
Publicado: (2022)

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency
por: Gámez-Díaz, Laura, et al.
Publicado: (2018)

Brucella Septic Arthritis: Case Reports and Review of the Literature
por: Elzein, Fatehi Elnour, et al.
Publicado: (2016)

Primary Myeloid Sarcoma of Ovary: A Case Report and Review of the Literature
por: Akyol, Sevda, et al.
Publicado: (2021)

GABA transaminase deficiency. Case report and literature review
por: Oshi, Amira, et al.
Publicado: (2021)

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
por: Soler-Palacín, Pere, et al.
Publicado: (2018)

Arthritis and diagnosis of leprosy: a case report and review of the literature()
por: Fernandes, Tania Rita Moreno de Oliveira, et al.
Publicado: (2014)

Antithyroid Arthritis Syndrome: A Case Report and Review of the Literature
por: Takaya, Kazuhiko, et al.
Publicado: (2016)

Case report of arthritis caused by Legionella anisa and review of the literature
por: Roussotte, M., et al.
Publicado: (2022)

Septic arthritis by Nocardia farcinica: Case report and literature review
por: Thakur, Abhishek, et al.
Publicado: (2022)

Deficiency Of Antithrombin III (AT III) - Case Report and Review of the Literature
por: GĂMAN, AMELIA MARIA, et al.
Publicado: (2014)

Aldolase A deficiency: Report of new cases and literature review
por: Papadopoulos, C., et al.
Publicado: (2021)

Vitamin B12 deficiency: case report and review of literature
por: Hasbaoui, Brahim El, et al.
Publicado: (2021)

Severe Hypoglycemia due to Isolated ACTH Deficiency in Children: A New Case Report and Review of the Literature
por: Torchinsky, Michael Y., et al.
Publicado: (2011)

Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients
por: Yao, Jiafeng, et al.
Publicado: (2022)

Spinal and sacroiliac gouty arthritis: report of a case and review of the literature
por: Cardoso, Fabiano Nassar, et al.
Publicado: (2014)

S. lugdunensis Native-Joint Septic Arthritis: Case Report and Review of the Literature
por: Tan, C. Danielle, et al.
Publicado: (2017)

Acute COVID-Related Hip Arthritis. Case Report and Literature Review
por: Kalavrytinos, Dimitrios, et al.
Publicado: (2023)

Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report
por: Hernández-Pérez, Daniela, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_tol2j09meo5041mlrkdmicp9c9