Cargando…

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diagnosis of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Merico, Daniele, Pasternak, Yehonatan, Zarrei, Mehdi, Higginbotham, Edward J., Thiruvahindrapuram, Bhooma, Scott, Ori, Willett-Pachul, Jessica, Grunebaum, Eyal, Upton, Julia, Atkinson, Adelle, Kim, Vy H. D., Aliyev, Elbay, Fakhro, Khalid, Scherer, Stephen W., Roifman, Chaim M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602677/ https://www.ncbi.nlm.nih.gov/pubmed/34795304 http://dx.doi.org/10.1038/s41525-021-00263-z

Ejemplares similares

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
por: Dinur Schejter, Yael, et al.
Publicado: (2017)

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

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant
por: Scott, Ori, et al.
Publicado: (2022)

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

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
por: Walker, Susan, et al.
Publicado: (2018)

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)

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers
por: Boscarino, Cathy, et al.
Publicado: (2019)

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
por: Merico, Daniele, et al.
Publicado: (2015)

Mild COVID-19 clinical course among paediatric patients with primary immunodeficiency
por: Sham, Marina, et al.
Publicado: (2023)

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome
por: Merico, Daniele, et al.
Publicado: (2015)

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

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

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)

Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era
por: Akil, Ammira Al-Shabeeb, et al.
Publicado: (2021)

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

Arthritis in children with LRBA deficiency – case report and literature review
por: Semo Oz, Rotem, et al.
Publicado: (2019)

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)

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
por: Silversides, Candice K., et al.
Publicado: (2012)

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

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

Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank
por: Rossi, Niccolo’, et al.
Publicado: (2021)

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

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
por: Ding, Qiliang, et al.
Publicado: (2022)

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

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder
por: Prasad, Aparna, et al.
Publicado: (2012)

Clinically relevant copy number variations detected in cerebral palsy
por: Oskoui, Maryam, et al.
Publicado: (2015)

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons
por: Faheem, Muhammad, et al.
Publicado: (2023)

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
por: Zarrei, Mehdi, et al.
Publicado: (2018)

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes
por: Razali, Rozaimi Mohamad, et al.
Publicado: (2021)

Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease
por: Ahmed, Ikhlak, et al.
Publicado: (2023)

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)

The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein G(olf) to Olfactory Cilia
por: Kurtenbach, Stefan, et al.
Publicado: (2017)

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

Gene copy number variation and pediatric mental health/neurodevelopment in a general population
por: Zarrei, Mehdi, et al.
Publicado: (2023)

Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia
por: Mokhtar, Siti Shuhada, et al.
Publicado: (2014)

LRBA Gene Polymorphisms and Risk of Coal Workers’ Pneumoconiosis: A Case–Control Study from China
por: Liu, Yi, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_nm916v6qtutbql00fc2gq95p51