Immuno: Inherited Immune Deficiency of Innate Immunity Flashcards Preview

CMOD/PCM- Block 2 > Immuno: Inherited Immune Deficiency of Innate Immunity > Flashcards

Flashcards in Immuno: Inherited Immune Deficiency of Innate Immunity Deck (49):
1

Patients with asplenia are significantly more susceptible to ________ infections, especially with encapsulated bacteria.

Septic

2

________ (leukocytes) in the spleen are important for recognizing and phagocytosing complement labeled or Ab opsonized bacteria from the bloodstream.

macrophages

3

If a pt doesn't have a spleen, they should be counseled to receive vaccines for _________ bacteria.

encapsulated

4

_________ involves either the complete absence of NK cells (and NKT cells) or total lack of NK cell function.

Absolute NK cell deficiency (ANKD)

5

Individuals with ________ lack NK cells and NK cell function. This condition is distinguished from ANKD by the presence of NKT cells.

Classical NK cell deficiency (CNKD)

6

Pts with ________ usually do not have NKT cells, although this is not a criterion for Dx. Normal/near normal NK cell numbers, but absent or severely decreased NK cell function.

Functional NK cell deficiency (FNKD)

7

NK cell deficiencies make pts especially susceptible to these viral infections:

varicella zoster virus (chickenpox/shingles), herpesvirus, cytomegaloviruses, Epstein-Barr virus

8

NK cell deficiencies make pts especially susceptible to these bacterial infections:

Mycobacterium avium/intracellulare (MAI; opportunistic pathogens)

9

NK cell deficiencies make pts especially susceptible to this fungal infection:

Trichonphyton (one of the leading causes of hair, skin, and nail infections in humans)

10

______ is a genetic defect in a protein that is required for NfkB activity.

NEMO

11

Let's play "Do you Remember from Block 1?"
NfkB is important for __________ of genes (following PRR engagement; TLRs) that are invilved in innate immune responses.

transcription

12

What clinical presentation do pts with NEMO present?

Increased susceptibility to recurrent bacterial and viral pathogens. Pts also suffer from developmental defects.

13

Describe the cellular abnormality present in a leukocyte adhesion deficiency.

Defective CD18 (an integrin cell adhesion molecule)

14

Describe the immune defect present in a leukocyte adhesion deficiency.

Defective migration of phagocytes into infected tissues

15

Describe type of organism that leads to widespread infections in a leukocyte adhesion deficiency.

Encapsulated bacteria

16

Describe the cellular abnormality present in chronic granulomatous disease (CGD).

Defective NADPH oxidase. Phagocytes cannot produce O2- (superoxide)

17

Describe the immune defect present in chronic granulomatous disease (CGD).

Impaired killing of phagocytosed bacteria

18

Describe the associated infections and other diseases found in chronic granulomatous disease (CGD).

Chronic bacterial and fungal infections. Granulomas.

19

Describe the cellular abnormality present in Glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Deficiency of glucose-6-phosphate dehydrogenase. Defective respiratory burst

20

Describe the immune defect present in Glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Impaired killing of phagocytosed bacteria

21

Describe the associated infections and other diseases present in Glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Increased susceptibility to extracellular pathogens due to inability to produce and release O2- and H2O2. Chronic bacterial and fungal infections. Anemia is induced by certain agents that interfere with erythrocyte metabolism.

22

Describe the cellular abnormality present in Myeloperoxidase deficiency.

Deficiency of myeloperoxidase in neutrophil granules and macrophage lysosomes and impaired production of toxic oxygen species.

23

Describe the immune defect present in Myeloperoxidase deficiency.

Impaired killing of phagocytosed bacteria

24

Describe the associated infections and other diseases present in Myeloperoxidase deficiency.

Chronic bacterial and fungal infections

25

Describe the cellular abnormality present in Chediak-Higashi syndrome.

Defect in vesicle fusion

26

Describe the immune defect present in Chediak-Higashi syndrome.

Impaired phagocytosis due to inability of endosomes to fuse with lysosomes.

27

Describe the associated infections and other diseases present in Chediak-Higashi syndrome.

Recurrent and persistent bacterial infections. Granulomas. Effects on many organs. Albinism because of improper trafficking of melanosomes.

28

Describe a childbirth abnormality present in pts with leukocyte adhesion deficiency.

Delayed detachment and sloughing off of the umbilical cord.

29

What is the most common infection that infants with chronic granulomatous disease contract?

Serratia marcescens

30

The nitroblue tetrazolium dye test is used to confirm the presence of this condition:

chronic granulomatous disease

31

A positive nitroblue tetrazolium dye test (old standard) shows what under microscopic examination? Why?

Blue color around neutrophils because normal phagocytes that produce NADPH oxidase that give rise to ROS that oxidize the NTB, produce a blue color. Blue color means negative for CGD but indicates a positive test.

32

The new standard of testing for chronic granulomatous disease is what?

The dihydrorhodamine test

33

A positive dihydrorhodamine test produces:

Green fluorescence when neutrophils produce oxidative burst that can reduce dihydrorhodamine to rhodamine. Measured by flow cytometry.

34

Chediak-Higashi syndrome is caused by a genetic defect of the gene that encodes a protein that is involved in __________ ________ formation, known as the _____ protein.

intracellular vesicle formation; LYST protein

35

List the three main symptoms that pts with Chediak-Higashi syndrome suffer from.

1) partial albinism
2) recurrent pyogenic infections
3) neurological disorders

36

How do you treat pts with Chediak-Higashi syndrome?

bone marrow transplant

37

List the two inherited disorders that result in neutropenia (low neutrophil blood count).

1- Severe congenital neutropenia (Kostmann syndrome)
2- Cyclic neutropenia

38

Describe the mode of inheritance and what cellular component is missing in severe congenital neutropenia

autosomal recessive. Associated with a gene abnormality of granulocyte colony stimulating factor (G-CSF) or its receptor (G-CSFR); G-CSF stimulates granulocyte growth

39

Describe the mode of inheritance, what gene defect is implicated, and what happens in cyclic neutropenia.

autosomal dominant. gene defect termed ELA-2. neutropenia occurs every 2-4 weeks and lasts about a week.

40

Is benign chronic neutropenia a life-threatening condition?

No. It is often asymptomatic

41

X-linked hyper IgM syndrome, X-linked aggamaglobulinemia, WHIM syndrome, and Griselli syndrome are immunodeficiencies that are complicated by neutropenia. Describe why.

Some of these patients produce autoantibodies that are specific for neutrophil determinants that result in decreased neutrophil numbers.

42

Let's play: "Do You Remember from Block 1?"
Pts with complement deficiencies that reduce deposition of C3b are significantly more susceptible to _________ infections.

Bacterial

43

Let's play: "Do You Remember from Block 1?"
Deficiencies of components C5-C9 result in susceptibility only to one bacterial genus:

Neisseria

44

Let's play: "Do You Remember from Block 1?"
Deficiencies of complement regulatory proteins can also cause problems. List two.

susceptibility to encapsulated bacteria due to depletion of C3
Autoimmune-like disease: complement activity destroys RBCs (paroxysmal nocturnal hemoglobinuria) bc no CD59 or CD59 anchor protein >> excessive MAC formation on RBCs.

45

Deficiencies of C1, C2, or C4 all result in ______________ disease. Why?

immune complex disease. Small immune complexes created by antibody binding to its antigen are usually further opsonized by activation of the classical complement cascade, promoting uptake and destruction of these small immune complexes.

46

C3 deficiency results in:
This leaves the pt susceptible to bacterial infections, especially ________ bacteria.

No ability to activate any of the complement cascades.
Encapsulated bacteria

47

This factor is a critical component of the alternative pathway. Susceptibility to encapsulated bacteria and Neisseria results from this deficiency.

Factor D

48

Deficiency of this factor is similar in phenotype to a C3 deficiency because the final result is depletion of C3b. In this condition, there is reduced cleavage of C3b or C4b, allowing for abnormally high amounts of C3 convertase to form, resulting in an accelerating reaction that uses up all of the C3.

Factor I

49

Treatment of paroxysmal nocturnal hemoglobinuria is:

Allogenic bone marrow transplantation. Complement C5-specific monoclonal antibody is effective at reducing the need for blood transfusions, improving quality of life and reducing risk of thrombosis.