Podcast
Questions and Answers
Which enzyme deficiency leads to the main problem of absence of MPO enzyme in neutrophils and monocytes?
Which enzyme deficiency leads to the main problem of absence of MPO enzyme in neutrophils and monocytes?
- CHS1 LYST gene mutation
- MPO deficiency (correct)
- Platelet-dense bodies deficiency
- Ganglioside accumulation
Which of the following is a clinical manifestation of CHS1 LYST gene mutation?
Which of the following is a clinical manifestation of CHS1 LYST gene mutation?
- Lysosomal fusion with phagosomes
- Partial albinism (correct)
- Impaired chemotaxis
- Frequent infections
What is the role of MPO in microbial destruction?
What is the role of MPO in microbial destruction?
- Mediates platelet aggregation
- Enhances chemotaxis in neutrophils
- Facilitates oxidative destruction of microbes (correct)
- Promotes lysosomal development
In which type of cells do patients with CHS1 LYST gene mutation exhibit abnormal lysosomal development?
In which type of cells do patients with CHS1 LYST gene mutation exhibit abnormal lysosomal development?
Which disease is characterized by an absence or reduced number of platelet-dense bodies?
Which disease is characterized by an absence or reduced number of platelet-dense bodies?
Which condition results in delayed killing of ingested bacteria in neutrophils?
Which condition results in delayed killing of ingested bacteria in neutrophils?
What is the main problem associated with Alius-Grignaschi Anomaly?
What is the main problem associated with Alius-Grignaschi Anomaly?
Which disease is caused by the deficiency of hexosaminidase A and leads to ganglioside accumulation in nerve cells?
Which disease is caused by the deficiency of hexosaminidase A and leads to ganglioside accumulation in nerve cells?
What are the clinical manifestations associated with patients suffering from CHS1 LYST gene mutation?
What are the clinical manifestations associated with patients suffering from CHS1 LYST gene mutation?
What is the role of the protein encoded by the CHS1 LYST gene?
What is the role of the protein encoded by the CHS1 LYST gene?
