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Flashcards in Overview of immunodeficiency Deck (61):
1

what is primary immunodeficiency?

this is congenital caused by defects in the immune system

2

what is primary immunodeficiency?

This is secondary caused by another disease

3

what are warning signs of primary immunodeficiency?

at least 2 of:
- 8 or more new ear infections in one year
- 2 or more sinus infections
- 2 or more months on antibiotics with little effects
- 2 or more pneumonias within 1 year
-failure of an infant to gain weight or grow normally
- recurrent deep or organ abscesses
- persistant thrush
- need for IV antibiotics
-

4

what cells are important for the adaptive immune system?

T and B cells

5

what cells are important for the innate immune system?

Phagocytes
Complement

6

If the primary immunodeficiency is aT cell defect what is affected?

Antibody production

7

As part of primary immunodeficiency what are the major B lymphocyte disorders?

- brutons disease
- common variable immunodeficiency
- selective IgA deficiency
-IgG2 subclass deficiency
- specific Ig deficiency

8

what is the proper name for brutons disease?

X linked agammaglobulinaemia

9

where is the defect in brutons disease?

btk gene on theX chromosome thatencodes brutons tyrosine kinase

10

what is the immune problem in brutons disease?

The mutation leads to a block in B cell development so it stops at pre-B cells

11

how does brutons disease normally present?

with repetitive severe bacterial infections in the 2nd half of their first year of life.

12

In brutons disease there is a defect in brutons tyrosine kinase what is this normally for?

pre B cell receptor signalling leading to a block in B cell development at pre-B stage

13

what cell levels will be low in brutons disease?

- B cells
- plasma cells
- all Igs

14

what treatment is given for brutons disease?

IV Ig at 2-3 week intervals or S/C weekly
- prompt antibiotic therapy
- NO LIVE VACCINES

15

what is the peak age for presenting with common variable immunodeficiency?

Early childhood or early adulthood

16

what immune cells are at fault in common variable immunodeficiency?

- the b cells can't differentiate into plasma cells leading to a antibody deficiency

17

what is the T cell levels in common variable immunodeficiency?

Normal

18

what is the treatment for common variable immunodeficiency?

- IV Ig
- prophylaxis antibiotics

19

what primary immunodeficiencies affects T cells?

- DiGeorge syndrome
- wiskott-aldrich syndrome
- ataxia telagiectasia

20

what is the inheritance for SCID?

Majority X linked
Rest is autosomal recessive

21

what is the typical presentation of SCID?

- well when born then problems after the first month of life
- diarrhoea
- weight loss
- persistant candidias
- failure to clear vaccines

22

What are the causes of SCID?

- defect in the common cytokine receptor on the gamma chain defect
- RAG 1/RAG2 defect
- adenosine deaminase deficiency

23

In SCID there is a adenosine deaminase deficiency what is the problem with this?

Causes an accumulation of deoxyadenosine and deoxy ATP which is toxic for dividing thymocytes

24

what are the investigations and findings for SCID?

- low total lymphocyte count
- low/absent T cells
- Igs low
- decreased T cell function

25

what is the genetic defect in DiGeorge syndrome?

22q11 deletion leading to a failure to develop 3rd and 4th pharyngeal pouches

26

what are the facial features in DiGeorges syndrome?

cleft palate
low set ears
fish shaped mouth

27

why is there an immunodeficiency in Digeorges syndrome?

Can have an abscent thymus leading to lack of T cell development

28

where is the mutation in bare lymphocyte syndrome?

mutation of transcription factors that regulate the expression of MHC class II gene

29

what is the immune problem n barelymphocyte syndrome?

Lack of MHC II leading to lack of CD4 development

30

what is the inheritance pattern in wiskott Aldrich syndrome?

X linked

31

where is the defect in wiskott Aldrich syndrome?

in the WASP preventing actin polymerisation

32

what immune cells are affected in wiskott Aldrich syndrome?

Progressive decline in T cells
Reduction in antibody production

33

what is the common presentations of wiskott Aldrich syndrome?

Thrombocytopenia
eczema
infections

34

what is the inheritance pattern of ataxia telangiectasia?

autosomal recessive

35

what is the defect in ataxia telangiectasia?

A defect in the cell cycle checkpoint gene ATM so p53 is activated leading to apoptosis of cells with damaged DNA

36

The ATM gene is damaged in ataxia telangiectasia what is it's normal role?

normally stabilises the DNA double stand break complexes during recombination

37

what immune cells are affected by the defect in ataxia telangiectasia?

lymphocyte antigen receptors and therefore lymphocyte development

38

what is the presentation of a patient with ataxia telangiectasia?

- childhood presentation
- progressive cerebellar ataxia
- telangiectasia on the ear lobes and conjunctivae
- immunodeficiency

39

what immune cell lineage is affect in ataxia telangiectasia?

both B and T cells
defect in the antibody production

40

where are the mutations in hyper IgM syndrome

Mutations in the gene for CD40L

41

what cells are defect in hyper IgM syndrome?

Igm is normal
defects in IgG, IgA and IgE

42

what hyper IgM syndrome there is a defect in CD40l what is it's normal role?

In macrophages getting T cell help

43

what is defect in innate immunity defects?

- phagocyte defects
- complement defects

44

what is defective in chronic granulomatous disease?

The oxidative killing of phagocytosed microbes due to a mutation in NADPH components

45

how is chronic granulomatous disease diagnosed?

- NBT test
- flow cytometry assay

46

what gene is defect in chediak higashi syndrome?

LYST gene

47

what part of phagocytosis is defective in chediak higashi syndrome?

the fusion of phagosome-lysosome function meaning defective killing

48

how is chediak higashi syndrome diagnosed?

- there is a low number of neutrophils
- neutrophils present have giant granules

49

where is the defect in leucocyte adhesion deficiency?

- defect in beta 2 chain integrins (LFA 1, MAC 1) and in sialyl lewis X

50

what infections are more likely in leucocyte adhesion deficiency?

skin infections
intestinal
perianal ulcers

51

what immune cells are defective in leucocyte adhesion deficiency?

- decreased neutrophil chemotaxis
- decreased integrins on phagocytes

52

how does defects in TLR3 present?

recurrent encephalitis

53

how does defects in MyD88 present?

bacterial pneumonias

54

Patients with defects in MAC complement are at risk of?

Neisseria infections

55

Patients with C3 deficiency are at risk of?

pyogenic infections

56

Patients with C1q, C2,C4 deficiency are at risk of?

SLE like syndrome

57

what are causes of secondary immunodeficiency?

- infection
- malignancy
- age
- nutrition
- chronic renal disease
- splenectomy

58

why can premature delievery lead to secondary immunodeficiency?

interruption in the placental transfer of IgG leaving them deficient

59

what are clinical indications for primary immune deficiencies for bone marrow transplant ?

- SCID
- phagocyte defects
- lymphomas, leukaemia, myeloma

60

what is an allogenic bone marrow transplant?

Uses genotypically matched individuals

61

what is an autologous bone marrow transplant?

The patient is the source