Answer the following questions with detailed expalantion Consolidate your understanding about JAK-STAT signalling by investigating the following human diseases (approx. 30-45minutes):1. X-linked SCID2. Job Syndrome (Hyper-IgE syndrome)Ask yourself the following questions:What is the causative gene mutation in these diseases?• What amino acid and/or protein domain is affected by the relevant mutation(s)?How do these mutation(s) effect the expression or function of this gene product?What effect does this mutation have on the relevant cytokine -> cytokine receptor -> JAK ->STATsignalling pathway?

Answered: • What is the causative gene mutation…

Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

Section: Chapter Questions

Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Answer the following questions with detailed expalantion

Consolidate your understanding about JAK-STAT signalling by investigating the following human diseases (approx. 30-45
minutes):
1. X-linked SCID
2. Job Syndrome (Hyper-IgE syndrome)
Ask yourself the following questions:
What is the causative gene mutation in these diseases?
• What amino acid and/or protein domain is affected by the relevant mutation(s)?
How do these mutation(s) effect the expression or function of this gene product?
What effect does this mutation have on the relevant cytokine -> cytokine receptor -> JAK ->STAT
signalling pathway?

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Mutations in IL2RG gene causes X- linked SCID. Mutations in STAT3 gene causes Job syndrome (hyper-IgE syndrome).

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