Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

645
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
645
Glucose Transporters01:27

Glucose Transporters

27.0K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
27.0K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

36.6K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.6K
Nondisjunction01:21

Nondisjunction

4.7K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.7K
Nondisjunction01:29

Nondisjunction

81.5K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
81.5K
Pleiotropy01:33

Pleiotropy

43.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.1K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Clinical Practice Guideline for the diagnosis of Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) in patients with Common Variable Immunodeficiency Disorders (CVID) - an ERS Clinical Research Collaboration.

The European respiratory journal·2026
Same author

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.

Blood advances·2025
Same author

Maintenance of X chromosome inactivation after T cell activation requires NF-κB signaling.

Science immunology·2024
Same author

COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.

Journal of clinical immunology·2024
Same author

NF-κB Signaling is Required for X-Chromosome Inactivation Maintenance Following T cell Activation.

bioRxiv : the preprint server for biology·2024
Same author

Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review.

Frontiers in immunology·2023

Related Experiment Video

Updated: Dec 29, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

87.3K

Omenn Syndrome Identified by Newborn Screening.

Matthew Tallar1, John Routes1

  • 1Pediatrics, Medical College of Wisconsin, 9000 West Wisconsin Avenue Suite 440, Milwaukee, WI 53226, USA.

Clinics in Perinatology
|February 1, 2020
PubMed
Summary

This study details a rare case of severe combined immunodeficiency (SCID) in an infant caused by novel RAG1 gene mutations. Genetic analysis and bone marrow transplant were key interventions.

Keywords:
NeonatalNewborn screenOmenn syndromeRAG1SCIDSevere combined immunodeficiency

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.5K

Related Experiment Videos

Last Updated: Dec 29, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

87.3K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.9K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.5K

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) is a group of genetic disorders affecting T cell development and B/NK cell function.
  • Newborn screening for SCID is crucial for early detection and intervention.

Purpose of the Study:

  • To report a unique case of SCID in a neonate with combined heterozygous variations in the RAG1 gene.
  • To highlight the diagnostic process and treatment of this rare genetic disorder.

Main Methods:

  • Clinical presentation of a 5-day-old infant with 0 TREC on newborn screening and rash.
  • DNA analysis to identify combined heterozygous frame shift and missense variations in the RAG1 gene.
  • Treatment with a matched sibling bone marrow transplant.

Main Results:

  • Identification of novel compound heterozygous mutations (c.256_257del and c.1186C>T) in the RAG1 gene.
  • Diagnosis of SCID confirmed, differentiating from Omenn syndrome and maternal engraftment.
  • Successful bone marrow transplantation from a matched sibling.

Conclusions:

  • RAG1 gene mutations are a significant cause of SCID, presenting with diverse clinical phenotypes.
  • Early genetic diagnosis and timely hematopoietic stem cell transplantation are vital for SCID patient outcomes.
  • This case underscores the importance of advanced genetic testing in diagnosing complex immunodeficiencies.