Three-week-old Xavier Capelleto was brought to the emergency room with a bright scaly rash that first developed on his legs and then spread to his trunk and face. He also had blisters on his palms and the soles of his feet. Xavier’s parents said that he had been experiencing looser bowel movements than expected, a large amount of yellow pus had been accumulating around his swollen eyelids, and he showed signs of oral thrush. Tests revealed that Xavier’s lymphocyte count was only 8% of total white blood cells (normal = 50%), all immunoglobulins were markedly decreased except for IgE, and no thymic shadow was detected on a chest X-ray. Eosinophilia was also detected. His parents were told that Xavier had an autosomal recessive form of severe combined immunodeficiency (SCID) known as Omenn syndrome, which affects the development of both B cells and T cells. A bone marrow transplant was recommended; however, Xavier died from respiratory failure due to an opportunistic bacterial infection. This history is consistent with a genetic deficiency in a. α- or β-defensins b. activation-induced cytidine deaminase (AID) c. MHC class I d. RAG-1 or RAG-2 e. Toll-like receptors.

Principles Of Pharmacology Med Assist
6th Edition
ISBN:9781337512442
Author:RICE
Publisher:RICE
Chapter14: Allergy: An Overview
Section: Chapter Questions
Problem 25RQ
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Three-week-old Xavier Capelleto was brought to the emergency room with a bright scaly rash that first developed on his legs and then spread to his trunk and face. He also had blisters on his palms and the soles of his feet. Xavier’s parents said that he had been experiencing looser bowel movements than expected, a large amount of yellow pus had been accumulating around his swollen eyelids, and he showed signs of oral thrush. Tests revealed that Xavier’s lymphocyte count was only 8% of total white blood cells (normal = 50%), all immunoglobulins were markedly decreased except for IgE, and no thymic shadow was detected on a chest X-ray. Eosinophilia was also detected. His parents were told that Xavier had an autosomal recessive form of severe combined immunodeficiency (SCID) known as Omenn syndrome, which affects the development of both B cells and T cells. A bone marrow transplant was recommended; however, Xavier died from respiratory failure due to an opportunistic bacterial infection. This history is consistent with a genetic deficiency in
a. α- or β-defensins
b. activation-induced cytidine deaminase (AID)
c. MHC class I
d. RAG-1 or RAG-2
e. Toll-like receptors.
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