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Immunology > immunodeficiency > Flashcards

immunodeficiency Flashcards

1
Q

generally, T-cells deficiencies vs B cell deficiencies according to risk for infections

A

generally, B-cells deficiencies –> recurrent bacterial infection
generally, T-cells deficiencies –> fungal and viral infection

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2
Q

Immunodeficiencies are divided to

A
  1. B-cells disorders
  2. T-cells disorders
  3. B and T cell disorders
  4. Phagocyte dysfunction
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3
Q

Immunodeficiencies - B-cells disorders - types

A
  1. X-linked (Bruton) agammaglobulinemia
  2. Selective IgA deficiency
  3. Common variable immunodeficiency
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4
Q

X-linked (Bruton) agammaglobulinemia - defect

A

Defect in BTK, a tyrosine kinase gene –> no B cell maturation (X-linked recessive –> boys)

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5
Q

X-linked (Bruton) agammaglobulinemia - mechanism of inheritance

A

X-linked recessive –> boys

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6
Q

X-linked (Bruton) agammaglobulinemia - presentation

A

Recurrent bacterial and enteroviral infection after 6 months (after maternal IgG protection)

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7
Q

X-linked (Bruton) agammaglobulinemia - findings

A
  1. Absent B cells in peripheral blood
  2. Low Ig of classes
  3. Absent/scanty lymph nodes and tonsils
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8
Q

Selective IgA deficiency - defect

A

unknown

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9
Q

Selective IgA deficiency - presentation

A

5 As

  • Majority asymptomatic
  • airway and GI infections
  • autoimmune diseases
  • Atopy
  • Anaphylaxis to IgA-containing products
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10
Q

Selective IgA deficiency - findings

A
  1. low IgA

2. normal IgG, IgM levels

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11
Q

Common variable immunodeficiency - defect

A

defect in B-cells differentiation (many causes)

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12
Q

Common variable immunodeficiency - presentation

A

Can be acquired in 20s-30s

  1. high risk of autoimmune disease
  2. bronchiectasis 3. lymphoma
  3. sinopulmonary infections
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13
Q

Common variable immunodeficiency - can be acquired in

A

20-30s

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14
Q

Common variable immunodeficiency - findings

A
  1. low plasma cells

2. low immunoglobulins

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15
Q

T-cell disorders - types

A
  1. Thymuc aplasia (DiGeorge syndrome)
  2. IL-12 receptor deficiency
  3. Autosomal dominant hyper-IgE syndrome (Job syndrome)
  4. Chronic mucocutaneous candidiasis
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16
Q

Thymuc aplasia is AKA

A

DiGeorge syndrome

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17
Q

Thymuc aplasia (DiGeorge syndrome) - defect

A

22q11 deletion –> failure to develop 3rd and 4th pharyngeal pouches –> absent thymus and parathyroids

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18
Q

Thymuc aplasia (DiGeorge syndrome) - presentation

A
  1. Tetany (hypocalcemia)
  2. reccurent viral/fungal infections
  3. conotruncal abnormalities (ef. tetralogy of Fallot, truncus arteriosus)
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19
Q

Thymuc aplasia (DiGeorge syndrome) - findings

A
  1. decreased T-cells
  2. decreased Parathormone –> decreased calcium
  3. absent thymic shadow on CXR
  4. 22q11 deletion detected by FISH
  5. not well developed lymph node paracortex
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20
Q

IL-12 receptor deficiency - defect

A

low Th1 response

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21
Q

IL-12 receptor deficiency - mode of inheritance

A

AR

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22
Q

IL-12 receptor deficiency - presentation

A

Disseminated mycobacterial and fungal infections

- may present after BCG vaccine administration

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23
Q

IL-12 receptor deficiency - may present after

A

BCG vaccine administration

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24
Q

IL-12 receptor deficiency - findings

A

low INF-γ

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25
Q

INF-γ is secreted by …. / actions

A

It is secreted by NK cells and T cells in response to il-12 from macrophages. actions:

  1. stimulates macrophages to kill phagocytosed pathogens
  2. Inhibits differentiation of Th2
  3. activates NK cells to kill virus infected-cells
  4. increases MHC expression and antigen presentation by all cells
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26
Q

Autosomal dominant hyper-IgE syndrome is also called

A

Job syndrome

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27
Q

Autosomal dominant hyper-IgE syndrome (Job syndrome) - defect / mode of inheritance

A

Deficiency of Th17 cells due to STAT3 mutation –> impaired recruitment of neutrophils to site of mutation
AD

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28
Q

Autosomal dominant hyper-IgE syndrome (Job syndrome) - presentation

A

FATED

  1. coarse Facies
  2. cold (noninflammed) staphylococcal Abscess
  3. retained primary Teeth
  4. IgE
  5. Demratoligic problems (eczema)
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29
Q

Autosomal dominant hyper-IgE syndrome (Job syndrome) - fingings

A

high IgE

low IFN-γ

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30
Q

Chronic mucocutaneous candidiasis - defect

A

T-cell dysfunction (many causes)

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31
Q

Chronic mucocutaneous candidiasis - presentation

A

Noninvasive Candida ablicans infection of skin and mucous membranes

32
Q

Chronic mucocutaneous candidiasis - findings

A
  1. absent in vitro T-cell proliferation in response to Candida ablicans
  2. Absent cutaneous reaction to Candida ablicans
33
Q

B and T cell disorders - types

A
  1. Severe combined immunodeficiency
  2. Ataxia-telangiectasia
  3. Hyper-IgM syndrome
  4. Wiskott-Aldrich syndrome
34
Q

Severe combined immunodeficiency - defect

A

several types:

a. defective IL-2R gamma chain (MC, X-linked)
b. adenosine deaminase deficinecy (AR)

35
Q

Severe combined immunodeficiency - presentation

A
  1. Failure to thrive
  2. chronic diarrhea
  3. thrush
  4. Reccurent viral, bacterial, fungal and protozoal infections
36
Q

Severe combined immunodeficiency - treatment

A

bone marrow transplant (no concern for rejection)

37
Q

Severe combined immunodeficiency - findings

A
  1. decreased T-cell receptor excision circles (TRECs)
  2. absence of thymic shadow on CXR
  3. absence of germinal centers (lymph node biopsy)
  4. absence of T cells (flow cytometry)
38
Q

T-cell receptor excision circles (TRECs) are

A

small circles of DNA created in T-cells during their passage through the thymus as they rearrange their TCR genes –> indication of T-cell maturation

39
Q

Ataxia-telangiectasia - defect

A

defects in ATM gene –> failure to repair DNA double strand breaks –> cell cycle arrest

40
Q

Ataxia-telangiectasia - presentation

A

triad: 1. cerebellar defects (Ataxia)
2. spider angiomas (telangiectasia)
3. IgA deficiency

41
Q

Ataxia-telangiectasia - findings

A
  1. increased AFP
  2. low IgA, IgG and IgE
  3. Lymphopenia
  4. cerebellar atrophy
  5. normal level of IgM
42
Q

Hyper-IgM syndrome - defect

A 
MC due to defective CD40L on Th cells --> class switching defect
XR
43
Q

Hyper-IgM syndrome - mode of inheritance

A

XR

44
Q

Hyper-IgM syndrome - presentation

A
  1. severe puogenic infection early in life

2. opportunistic infection with Pneumocystis, Cryptospridium, CMV

45
Q

Hyper-IgM syndrome - opportunistic infection with

A
  1. Pneumocystis
  2. Cryptospridium
  3. CMV
46
Q

Hyper-IgM syndrome - findings

A
  1. normal of increased IgM

2. low IgG, IgA, IgE

47
Q

Wiskott-Aldrich syndrome - defect

A

mutation of was gene –> T cells unable to reorganize actin cytoskeleton
XR

48
Q

Wiskott-Aldrich syndrome - mode of inheritance

A

XR

49
Q

Wiskott-Aldrich syndrome - presentation

A

Mneominic: WATER + autoimmune + malignancy

  1. Thrmobocytopenia
  2. Eczema
  3. Reccurent infections
  4. High risk of autoimmune disease and malignancy
50
Q

Wiskott-Aldrich syndrome - findings

A
  1. low/normal IgG, IgM
  2. High IgE, IgA
  3. Fewer and smaller platelets
51
Q

B and T cell disorders - types and mode of inheritance

A
  1. Severe combined immunodeficiency –> X or AR
  2. Ataxia-telangiectasia –> -
  3. Hyper-IgM syndrome –> XR
  4. Wiskott-Aldrich syndrome –> XR
52
Q

Phagocyte dysfunction - types and mode of inheritance

A
  1. Phagocyte adhesion deficiency (type 1) –> AR
  2. Chediak-Higashi –> AR
  3. Chronic granulomatous disease –> XR
53
Q

Leukocyte adhesion deficiency (type 1) - defect

A

defect in LFA-1 integrin (CD18) protein on phagocytes –> impaired migration and chemotaxis
AR

54
Q

Leukocyte adhesion deficiency (type 1) - mode of inheritance

A

AR

55
Q

Leukocyte adhesion deficiency (type 1) - presentation

A
  1. reccurent bacterial skin and mucosa infection
  2. absent pus formation
  3. impaired wound healing
  4. delayed separation of umbilical cord (>30 days)
56
Q

Leukocyte adhesion deficiency (type 1) - findings

A
  1. increased neutrophils

2. no neutrophils at infection site

57
Q

Chediack-Hisgashi syndrome - mechanism

A

Defect in lysosomal trafficking regulator gene (LYST) –> microtubule dysfunction in phagosome-lysosome fusion
AR

58
Q

Chediack-Hisgashi syndrome - Mode of inheritance

A

AR

59
Q

Chediack-Hisgashi syndrome - presentation

A
  1. reccurent pyogenic infections by staphyococci and streptococci
  2. partial albinism
  3. peripheral neuropathy
  4. progressive neurodegeneration
  5. infiltrative lymphohistiocytosis
60
Q

Chediack-Hisgashi syndrome - findings

A
  1. giant granules in granulocytes and platelets
  2. pancytopenia
  3. Mild coagulation defects
61
Q

Chronic granulomatous disease - mechanism

A

Defect of NADPH oxidase –> decreased ROS and respiratory burst in neutrophils
XR

62
Q

Chronic granulomatous disease - mode of inheritance

A

XR

63
Q

Chronic granulomatous disease - presentation

A

high susceptibility to CAT + organism

64
Q

CAT + bugs?

A

CATs Need PLACESS to Belch their Hairballs

Nocardia, Pseudomonas, Listeria, Aspergillus, Candida, E. coli, Staphylococci, Seratia, B. cepacia, H. pylori

65
Q

Chronic granulomatous disease - findings

A 
Abnormal dihydrorhodamine (flow cytometry) test (decreased green fluorescence) 
Nitroblue tetrazolium dye reduction test obsolete (if + --> less blue)
66
Q

MC immunodeficiency

A

Selective IgA deficiency

67
Q

infections in immunodeficiencies (bacteria, viruses, Fungi/parasaties) - decreased T cells

A

bacteria: sepsis
Viruses: CMV, EBV, JCV, VZV, chronice infection with respiratory/GI viruses
fungi/paratsites: Candida (local) PCP

68
Q

infections in immunodeficiencies (bacteria, viruses, Fungi/parasaties) - decreased B cells

A

bacteria: encapsulated
viruses: enteroviral encephalitis, poliovirus (live vaccine contraindicated)
fungi/paratsites: giardias (if no IgA)

69
Q

infections in immunodeficiencies (bacteria, viruses, Fungi/parasaties) - decreased granulocytes

A

bacteria 1. staphylococcus 2. Burkholderia cepacia
3. Pseudomonas aeruginosa 4. Serratia 5. Nocardia
viruses: no
fungi/parasites: Candida (systemic), aspergillus, mucormycosis

70
Q

infections in immunodeficiencies (bacteria, viruses, Fungi/parasaties) - low complement

A

bacteria –> encapsuled species with early compoment deficiencies, Neisseria with late compoment deficiencies

71
Q

Immunodeficiency disorder with low INF-γ

A
  1. Il-12 deficiency

2. AD hyper-IgE syndrome (Job syndrome)

72
Q

Immunodeficiency disorder with cold abscess

A

AD hyper-IgE syndrome (Job syndrome)

73
Q

Immunodeficiency disorder with fewer and smaller platelets

A

Wiskott-Aldrich syndrome

74
Q

Immunodeficiency disorder with delayed separation of umbilical cord

A

Leukocyte adhesion deficiency

75
Q

Immunodeficiency disorder with infiltrative lymphohistiocytosis

A

Chediak-Higashi syndrome

Immunology (10 decks)

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