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T year Joseph hall week > Overview of immunodeficiency > Flashcards

Overview of immunodeficiency Flashcards

1
Q

what is primary immunodeficiency?

A

this is congenital caused by defects in the immune system

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2
Q

what is primary immunodeficiency?

A

This is secondary caused by another disease

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3
Q

what are warning signs of primary immunodeficiency?

A

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
-

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4
Q

what cells are important for the adaptive immune system?

A

T and B cells

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5
Q

what cells are important for the innate immune system?

A

Phagocytes

Complement

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6
Q

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

A

Antibody production

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7
Q

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

A
  • brutons disease
  • common variable immunodeficiency
  • selective IgA deficiency
  • IgG2 subclass deficiency
  • specific Ig deficiency
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8
Q

what is the proper name for brutons disease?

A

X linked agammaglobulinaemia

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9
Q

where is the defect in brutons disease?

A

btk gene on theX chromosome thatencodes brutons tyrosine kinase

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10
Q

what is the immune problem in brutons disease?

A

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

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11
Q

how does brutons disease normally present?

A

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

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12
Q

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

A

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

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13
Q

what cell levels will be low in brutons disease?

A
  • B cells
  • plasma cells
  • all Igs
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14
Q

what treatment is given for brutons disease?

A

IV Ig at 2-3 week intervals or S/C weekly

  • prompt antibiotic therapy
  • NO LIVE VACCINES
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15
Q

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

A

Early childhood or early adulthood

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16
Q

what immune cells are at fault in common variable immunodeficiency?

A
  • the b cells can’t differentiate into plasma cells leading to a antibody deficiency
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17
Q

what is the T cell levels in common variable immunodeficiency?

A

Normal

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18
Q

what is the treatment for common variable immunodeficiency?

A
  • IV Ig

- prophylaxis antibiotics

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19
Q

what primary immunodeficiencies affects T cells?

A
  • DiGeorge syndrome
  • wiskott-aldrich syndrome
  • ataxia telagiectasia
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20
Q

what is the inheritance for SCID?

A

Majority X linked

Rest is autosomal recessive

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21
Q

what is the typical presentation of SCID?

A
  • well when born then problems after the first month of life
  • diarrhoea
  • weight loss
  • persistant candidias
  • failure to clear vaccines
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22
Q

What are the causes of SCID?

A
  • defect in the common cytokine receptor on the gamma chain defect
  • RAG 1/RAG2 defect
  • adenosine deaminase deficiency
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23
Q

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

A

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

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24
Q

what are the investigations and findings for SCID?

A
  • low total lymphocyte count
  • low/absent T cells
  • Igs low
  • decreased T cell function
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25
Q

what is the genetic defect in DiGeorge syndrome?

A

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

26
Q

what are the facial features in DiGeorges syndrome?

A

cleft palate
low set ears
fish shaped mouth

27
Q

why is there an immunodeficiency in Digeorges syndrome?

A

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

28
Q

where is the mutation in bare lymphocyte syndrome?

A

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

29
Q

what is the immune problem n barelymphocyte syndrome?

A

Lack of MHC II leading to lack of CD4 development

30
Q

what is the inheritance pattern in wiskott Aldrich syndrome?

A

X linked

31
Q

where is the defect in wiskott Aldrich syndrome?

A

in the WASP preventing actin polymerisation

32
Q

what immune cells are affected in wiskott Aldrich syndrome?

A

Progressive decline in T cells

Reduction in antibody production

33
Q

what is the common presentations of wiskott Aldrich syndrome?

A

Thrombocytopenia
eczema
infections

34
Q

what is the inheritance pattern of ataxia telangiectasia?

A

autosomal recessive

35
Q

what is the defect in ataxia telangiectasia?

A

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

36
Q

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

A

normally stabilises the DNA double stand break complexes during recombination

37
Q

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

A

lymphocyte antigen receptors and therefore lymphocyte development

38
Q

what is the presentation of a patient with ataxia telangiectasia?

A
  • childhood presentation
  • progressive cerebellar ataxia
  • telangiectasia on the ear lobes and conjunctivae
  • immunodeficiency
39
Q

what immune cell lineage is affect in ataxia telangiectasia?

A

both B and T cells

defect in the antibody production

40
Q

where are the mutations in hyper IgM syndrome

A

Mutations in the gene for CD40L

41
Q

what cells are defect in hyper IgM syndrome?

A

Igm is normal

defects in IgG, IgA and IgE

42
Q

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

A

In macrophages getting T cell help

43
Q

what is defect in innate immunity defects?

A
  • phagocyte defects

- complement defects

44
Q

what is defective in chronic granulomatous disease?

A

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

45
Q

how is chronic granulomatous disease diagnosed?

A
  • NBT test

- flow cytometry assay

46
Q

what gene is defect in chediak higashi syndrome?

A

LYST gene

47
Q

what part of phagocytosis is defective in chediak higashi syndrome?

A

the fusion of phagosome-lysosome function meaning defective killing

48
Q

how is chediak higashi syndrome diagnosed?

A
  • there is a low number of neutrophils

- neutrophils present have giant granules

49
Q

where is the defect in leucocyte adhesion deficiency?

A
  • defect in beta 2 chain integrins (LFA 1, MAC 1) and in sialyl lewis X
50
Q

what infections are more likely in leucocyte adhesion deficiency?

A

skin infections
intestinal
perianal ulcers

51
Q

what immune cells are defective in leucocyte adhesion deficiency?

A
  • decreased neutrophil chemotaxis

- decreased integrins on phagocytes

52
Q

how does defects in TLR3 present?

A

recurrent encephalitis

53
Q

how does defects in MyD88 present?

A

bacterial pneumonias

54
Q

Patients with defects in MAC complement are at risk of?

A

Neisseria infections

55
Q

Patients with C3 deficiency are at risk of?

A

pyogenic infections

56
Q

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

A

SLE like syndrome

57
Q

what are causes of secondary immunodeficiency?

A
  • infection
  • malignancy
  • age
  • nutrition
  • chronic renal disease
  • splenectomy
58
Q

why can premature delievery lead to secondary immunodeficiency?

A

interruption in the placental transfer of IgG leaving them deficient

59
Q

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

A
  • SCID
  • phagocyte defects
  • lymphomas, leukaemia, myeloma
60
Q

what is an allogenic bone marrow transplant?

A

Uses genotypically matched individuals

61
Q

what is an autologous bone marrow transplant?

A

The patient is the source

T year Joseph hall week (3 decks)

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