関連する実験動画

Updated: Feb 14, 2026

Construction of Homozygous Mutants of Migratory Locust Using CRISPR/Cas9 Technology
10:07

Construction of Homozygous Mutants of Migratory Locust Using CRISPR/Cas9 Technology

Published on: March 16, 2022

2.7K

症例報告:結合免疫不全を引き起こすRAC2 R68Wホモジゴス活性化変異の特徴化

Aléhandra Desjardins1,2, Louis Marois1,3, Ágnes Donkó4

  • 1Center for Immunity, Inflammation and Infectious Diseases, Montreal Clinical Research Institute (IRCM), Montreal, QC, Canada.

Frontiers in immunology
|February 13, 2026
PubMed
まとめ

珍しい免疫不全であるRAC2欠乏症の2人の患者は,新しい同位体変異 (p.R68W) を示した. この変異は,様々な症状を伴う結合免疫不全を引き起こし,先進的な遺伝子検査とカスタマイズされた治療法の必要性を強調しました.

キーワード:
RAC2は,RAC2と一致している.ケースレポート ケースレポート併合免疫不全症による免疫不全症である.gain-of-function 機能の獲得による突然変異免疫の先天的な誤りです.

さらに関連する動画

Characterizing Mutational Load and Clonal Composition of Human Blood07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.9K
Isolation and Characterization of the Immune Cells from Micro-dissected Mouse Choroid Plexuses09:55

Isolation and Characterization of the Immune Cells from Micro-dissected Mouse Choroid Plexuses

Published on: February 3, 2022

8.5K

関連する概念動画

Mutations01:39

Mutations

Overview
94.6K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.7K
Active versus Passive Immunity01:31

Active versus Passive Immunity

Immunity, along with the ability to limit pathogen growth to prevent significant body tissue damage, can be gained either by (1) actively developing an immune response within the individual after exposure to a pathogen or after getting vaccinated or (2) passively transferring immune components from an immune individual to one who is nonimmune. Both these forms of immunity can be found naturally and in medical practices.
Active Immunity
Active immunity refers to the resistance one develops...
11.0K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
40.0K
What is the Immune System?01:38

What is the Immune System?

Overview
132.7K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.6K