2.3 Primary Immunodeficiency Flashcards Preview

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Flashcards in 2.3 Primary Immunodeficiency Deck (46):
1

What is the cause of DiGeorge syndrome?

Developmental failure of the 3rd and 4th pharyngeal pouches d/t microdeletion of chr 22q11

2

What are the s/sx of DiGeorge syndrome? (CATCH-22)

-Cleft palate
-Abnormal Facies
-Thymic aplasia
-Cardiac Defects
-Hypocalcemia from hypoparathyroidism

3

What part of lymph nodes will be underdeveloped in DiGeorge syndrome?

Paracortex

4

SCID is a term for a variety of diseases that have what in common?

Defect in cell mediated and humoral immunity

5

What are the three major etiologies of SCID?

-Cytokine receptor defects
-Adenosine deaminase deficiency
-MHC class II deficiency

6

What is the inheritance pattern of adenosine deaminase deficiency SCID?

AR

7

What is the inheritance pattern of IL-2 Receptor deficiency SCID?

XLR

8

What is the usual presentation of SCID pts?

FTT
-diarrhea
-Thrush
-Recurrent infx

9

What is the treatment for SCIDs?

Sterile isolation and Bone marrow transplant

10

Where is there a mixed humoral and T cell deficiency in SCID d/t MHC class II deficiency?

CD4+ T cells are involved in maturation of both arms of adaptive immunity

11

True or false: live vaccines are absolutely contraindicated in SCID pts

True

12

What is X-linked (Bruton's) agammaglobulinemia?

Defect in BTK (Y kinase gene) which prevents B cell maturation

13

True or false: there are no B cells in X-linked (Bruton's) agammaglobulinemia

False--no Mature B cells, but there are B cells

14

What is the usual presentation of X-linked (Bruton's) agammaglobulinemia?

Recurrent bacterial, enteroviral, and giardia infections AFTER 6 months

15

When do kids with X-linked (Bruton's) agammaglobulinemia present with s/sx? Why?

After 6 months, when maternal Ig falls

16

What parasitic infection are patients with B cell deficiencies at risk for?

Giardia

17

True or false: Live vaccines are absolutely contraindicated in X-linked (Bruton's) agammaglobulinemia

True

18

What is CVID?

Low Ig d/t B cell or Th cell defects d/t a variety of causes, and presents later in life (can be acquired).

19

What are the three major infections that CVID pts are susceptible to?

Bacterial
Enteroviruses
Giardia

20

What noninfectious diseases are CIVD pts susceptible to?

Lymphoma
Autoimmune diseases

21

What is the most common primary immunodeficiency?

IgA deficiency

22

What type of infections are patients with IgA deficiency more susceptible to?

Mucosal, especially viral infections

23

What autoimmune GI diseases is associated with IgA deficiency?

Celiac disease

24

What is hyper-IgM syndrome?

Defect on CD40L on Th cells, leading to the inability to switch ab classes

25

What is the usualy presentation of hyper-IgM syndrome?

Severe pyogenic infections early in life; opportunistic infections with pneumocystis, cryptosporidium, CMV

26

What are the two ways in which B cells can be activated?

-Direct binding of antigen to IgM
-Antigen presentation via MHC II + CD40

27

Why is IgM high in hyper-IgM syndrome?

-Direct binding of IgM via antigen is intact, but no CD40 interaction on Th cells to induce switching

28

Why is there a predisposition to pyogenic infections with hyper-IgM syndrome?

No IgG for opsonization

29

What is Wiskott-Aldrich syndrome? What is the classic triad of symptoms (TIE)?

-Mutation in WASP gene, leading to the inability of T cells to reorganize actin cytoskeleton

Triad:
-Thrombocytopenia
-Infections
-Eczema

30

What are the classic Ig findings in Wiskott-Aldrich syndrome?

-Decreased IgG and IgM
-Increased IgE and IgA

31

What is the inheritance pattern of Wiskott-aldrich syndrome?

XLR

32

Deficiencies in C5-C9 components of complement predisposes patients to what infectious bacteria?

Neisseria infections

33

C1 inhibitor deficiency leads to what? What is the classic presentation of this?

Hereditary angioedema d/t overactivation of C1 and inflammatory response

Periorbital edema

34

What is the defect in Ataxia-Telangiectasia? What is the classic triad of symptoms?

-ATM gene, which is responsible for repairing double stranded breaks, is defective
-Ataxia
-Telangiectasia
-IgA deficiency

35

What are the brain findings of Ataxia-Telangiectasia?

Cerebellar atrophy

36

What sort of imaging should never be done on pts with Ataxia-Telangiectasia?

Anything involving x-rays, d/t inability to repair double stranded breaks

37

What are the Ig findings of Ataxia-Telangiectasia?

Decreased IgG, IgA, and IgE

38

What is IL-12 receptor deficiency?

Low IL-12 decreased Th1 cells response, leading to disseminated mycobacterial and fungal infections

39

When does IL-12 receptor deficiency classically present?

After BCG vaccination

40

What is the inheritance pattern of IL-12 receptor deficiency?

AR

41

What happens to IFN-gamma with IL-12 receptor deficiency?

Decreased d/t no Th1 cells to produce it

42

What is AD hyper IgE-syndrome (Job syndrome)?

Deficiency of Th17 cells d/t STAT3 mutation.
-Leads to impaired recruitment of PMNs

43

What are the classic features of Hyper IgE syndrome? (DRAFT)

Dermatological problems
Respiratory infx
Abscesses
Facies are coarse
Two rows of Teeth

44

What is the hallmark characteristic abscesses in Job syndrome?

They are cold (lacking typical s/sx of inflammation) d/t a lack of PMN chemotaxis

45

What is the inheritance pattern of Job syndrome? Hyper IgE syndrome?

Job = AD
Hyper IgE = AR

46

What is chronic mucocutaneous candidiasis?

T cell dysfunction 2/2 a variety of causes leads to recurrent, non invasive candidal infections