Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

doi:10.1111/cge.13789

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.

Clinical genetics - 1 Sept 2020

Suspitsin Evgeny N, Guseva Marina N, Kostik Mikhail M, Sokolenko Anna P, Skripchenko Nataliya V, Levina Anastasia S, Goleva Olga V, Dubko Margarita F, Tumakova Anastasia V, Makhova Maria A, Lyazina Lidiya V, Bizin Ilya V, Sokolova Natalia E, Gabrusskaya Tatiana V, Ditkovskaya Liliya V, Kozlova Olga P, Vahliarskaya Svetlana S, Kondratenko Irina V, Imyanitov Evgeny N

Abstract excerpt

Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, additional genetic techniques. Genetic causes of the disease were identified in 69/333 (21%) of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to AIRE Protein

Share to CHARGE Syndrome

Share to Endonucleases

Share to Genetic Diseases, X-Linked

Share to Primary Immunodeficiency Diseases

Share to Semaphorins

Share to Severe Combined Immunodeficiency

Source

Open in PubMed

Identifiers

PMID: 32441320
DOI: 10.1111/cge.13789

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.PMID 32441320Read ↗

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.Semantic proximity Read ↗

Genetic diagnosis of inborn errors of immunity using clinical exome sequencingSemantic proximity Read ↗

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results.Semantic proximity Read ↗

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.Semantic proximity Read ↗

Profile of 208 Patients With Inborn Errors of Immunity at a Tertiary Care Center in South IndiaSemantic proximity Read ↗

Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: Results from a specialized research center for immunodeficiency in TürkiyeSemantic proximity Read ↗

Next-generation sequencing for inborn errors of immunity.Semantic proximity Read ↗

Genetic screening in a Brazilian cohort with inborn errors of immunity.Semantic proximity Read ↗

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.Semantic proximity Read ↗

Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.Semantic proximity Read ↗

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.Semantic proximity Read ↗

Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.