Chapter 6- Transplants, Immunodeficiency Flashcards Preview

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Flashcards in Chapter 6- Transplants, Immunodeficiency Deck (89)
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1

The gene assoaciated with Chediak higashi codes for what

LYST, which helps regulate lysosomes transportation

2

What is the cause of bare lymphocyte syndrome

Mutations in the transcription factors needed for MHC 2 molecules

3

Which protein is mutated in Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome protein (WASP)

4

What is the intestinal protazoan that is common in patients with X linked agammaglobulinemia

Giardia lamblie (usually protected by IgA)

5

What are the clinical presentation of common variable immunodeficiency

Antibody deficient, resembling X link gammaglobulinemia

6

What is the function of the ataxia telangiectasia mutated (ATM) protein

A sensor of DNA damage (double stranded breaks) and works to activate p53

7

Patients with Leukocyte deficiency type 2 have defects in what

Defects in fucosyl transferase, which makes the sialyl-Lewis X, which is the ligand for the P and E selectin

8

What is JOB syndrome

Defects in Th1 responses leading to mycobacterial infections, with Th17 defects leading to chronic mucocutaneous candidiasis and bacterial infections of skin

9

Defects in the SAP protein lead to what

Attenuation of NK and T cells, leading to viral infections, inability to form germinal centers

10

How does a C1q inhibitor lead to hereditary angioedema

Unregulated proteases leads to increase of kallikrein and bradykinin, which increases permeability

11

What type of pathogens are Digeorge patients prone to

Fungal and viral infections

12

What are the levels of T cells in Wiskott-Aldrich syndrome

-Normal early in life, but there is the progression of T cell loss in the peripheral LNs and blood

13

What is the mechanism of disease in X linked agammaglobulinemia

Deficient BTK does not allow the signal transduction in B cells to allow the placement of a light chain in place of the surrogate light chain

14

What deletions ion the gene are the cause of DiGeorge symptoms

-TBX1 (brachial arch development)

15

What is the location of defect in X linked agammaglobulinemia

Xq21.22

16

Patients with Chediak-Higashi syndrome have defects in what

Defective fusion of phagosomes and lysosomes, which inhibit phagocytes function

17

What condition does X linked lymphoproliferative syndrome commonly lead to

Fulminant infectious mononucleosis and B cell tumors

18

What are the main abnormalities seen in Chediak higashi syndrome

1) Nuetropenia
2) Defective degranulation
3) delayed microbial killing

19

What infections are patients with common variable immunodeficiency prone to

Recurrent sinopulmonary pyogenic infections and recurrent herpesvirus infections

20

What is the genetic component to Wiskott-Aldrich syndrome

X linked

21

Which infections are ataxia telangiectasia prone to

Upper and lower respiratory bacterial infections, cancers

22

What are the cytokines that are affected by X linked SCID

IL-2,4,7,9,11,15,21

23

What happens when isolated IgA deficient patients are transfused with IgA therapy

Go into anaphylaxis reaction as IgA is treated as a foreign antigen

24

Patients with chronic granulomatous disease have defects in what

Defects in phagocyte oxidase, which is used to create superoxide

25

What are common non immuno related symptoms seen with Chediak higashi syndrome

-Albinism (abnormal melanocytes)
-Nerve defects (abnormal nerves)
-Bleeding disorders (abnormal platelets)

26

What are the clinical presentations of Ataxia Telangiectasia

Abnormal gait (ataxia), vascular malformations (telangiectases), neuro defects, increased tumors, and immunodeficiency

27

What protein is commonly mutated in X linked lymphoproliferative syndrome

SLAM associated protein (SAP)

28

Where is the location of WASP

Xp11.23

29

Leukocyte adhesion deficiency Type 1 and 2 lead to recurrent infections due to

Inadequate granulocyte function

30

At what age does X linked agammaglobulinemia become appearant and what are the signs

6 months after birth, and begins with recurrent bacterial infections