Related Experiment Video
Updated: Jul 19, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Clinical features of a human Rac2 mutation: a complex neutrophil dysfunction disease
A G Kurkchubasche1, J A Panepinto, T F Tracy
1Department of Surgery, Division of Pediatric Surgery, Brown University School of Medicine, Providence, Rhode Island, USA.
The Journal of Pediatrics
|July 11, 2001
Summary
A novel leukocyte disorder caused severe infant infections, despite normal initial tests. This condition, linked to a Rac2 defect, impacts multiple white blood cell functions.
Area of Science:
- Immunology
- Cell Biology
- Genetics
Background:
- Neutrophil dysfunction can lead to severe, recurrent infections.
- Phagocyte function tests are crucial for diagnosing primary immunodeficiencies.
Observation:
- An infant presented with rapidly progressing soft-tissue infections.
- Initial phagocyte function screening tests appeared normal, despite clinical suspicion of a neutrophil disorder.
Findings:
- A novel, multifaceted leukocyte disorder was identified.
- This disorder involved defects in leukocyte shape change, chemotaxis, ingestion, degranulation, superoxide anion production, and bactericidal activity.
- The condition was secondary to a specific defect in Rac2.
Implications:
- This case highlights a previously unrecognized cause of severe combined immunodeficiency.
- Understanding Rac2 function is critical for diagnosing and potentially treating complex leukocyte disorders.
- Further research into Rac2's role in immune cell function is warranted.
Related Concept Videos
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
02:38The Ras Gene
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Ras is a superfamily...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:24Small GTPases - Ras and Rho
Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
Three regulatory proteins control their activity:
Three regulatory proteins control their activity:
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
01:29Respiratory Syncytial Virus Disease
Human respiratory syncytial virus (RSV) is a widespread pathogen that primarily targets infants and young children but also poses a serious health risk to elderly and immunocompromised individuals. Belonging to the Pneumoviridae family, RSV is a negative-sense, single-stranded RNA virus within the Pneumovirus genus. Its global health burden is significant, with millions of cases annually resulting in hospitalizations and mortality, particularly in resource-limited settings. Although most...