BIIC Immunology Lecture 9_ Primary Immunodeficiencies

Question 1

What are the XXXXXX main types of Severe combined immunodeficiency (SCID)?

Answer 1

1) Adenosine Deaminase deficiency
2) X linked SCID (IL2RG deficiency)
3) RAG 1 and 2 defects
4) CD 40 Ligand deficiency

Question 2

What is Chronic Granulomatous Disease

Answer 2

it is a common veriable immune disease (CVID) caused by defects in NADPH oxidase. This makes phagosomes less able to create ROS and kill the loysosomal contents

Question 3

What is Leukocyte Adhesion Deficiency?

Answer 3

leukocytes (specifically nutrophils) are unable to leave the vasculature and enter the tissue. It presents with sever infections that have no puss and delayed separation of the umbilical cord

Question 4

What recurrent infection is common with defects in the complement attack complex?

Answer 4

Neisserial infections

Question 5

What is the clinical triad for Wiskott Aldrich Syndrome?

Answer 5

X linked triad with eczema, few/small platelets, and immunodeficiency

Question 6

What is the clinical triad for Ataxia Telangiectasia?

Answer 6

AR triad with ataxia, ocular telangiectasias, and infections

Question 7

What is the clinical triad for Hyper IgE syndrome?

Answer 7

eczema, High IgE, and infections

Question 8

What is the clinical triad for Chediak-Higashi Syndrome?

Answer 8

AR triad of gray hair, peripheral neuropathy, impaired cell mediated cytotoxicity

Question 9

What is the typical genetics of DiGeorge Syndrome?

Answer 9

hemizygous deletion of chromosome 22q11

Question 10

Are recurent strep and UTIs indicitve of immunodeficency?

Answer 10

NO