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Severe Congenital Neutropenia (SCN) Quiz

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Severe Congenital Neutropenia (SCN) Quiz

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Questions and Answers

What is the hallmark characteristic of Severe Congenital Neutropenia (SCN)?

Extremely low neutrophil count

What medication is often used in the treatment of SCN to stimulate the production of neutrophils?

Granulocyte-colony stimulating factor (G-CSF)

Which gene mutation is typically associated with SCN?

ELANE gene mutations

What are some disorders related to white blood cell defects mentioned in the text?

Leukemia, immune deficiency disorders, autoimmune diseases Signup and view all the answers

What test is typically conducted to measure the levels of different blood cells, including white blood cells?

Complete Blood Count (CBC) Signup and view all the answers

What is the primary function of white blood cells in the human body?

White blood cells, also known as leukocytes, play a crucial role in defending the body against infections, diseases, and foreign invaders. Signup and view all the answers

Explain Severe Congenital Neutropenia (SCN) and its impact on an individual's health.

SCN is a rare genetic disorder characterized by a severe deficiency of neutrophils, a type of white blood cell responsible for fighting bacterial and fungal infections. This deficiency makes individuals with SCN highly susceptible to recurrent and life-threatening infections. Signup and view all the answers

Describe the symptoms the 2-year-old boy experienced that led to his diagnosis of SCN.

The 2-year-old boy was brought to the hospital with a high fever, severe mouth sores, and a persistent cough. His medical history also revealed frequent hospitalizations due to severe infections since birth. Signup and view all the answers

What did the blood tests for the 2-year-old boy reveal about his condition?

Blood tests showed an extremely low neutrophil count, indicating a defect in the production or maturation of these white blood cells. Signup and view all the answers

How was the diagnosis of SCN confirmed for the 2-year-old boy?

Further genetic testing confirmed the diagnosis of SCN. Signup and view all the answers