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Immunology2 > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

Affected Gene: Asplenia

A

Unknown

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2
Q

Affected Gene: C3 deficiency

A

C3

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3
Q

Affected Gene: Factor I deficiency

A

CFI (complement factor I)

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4
Q

Affected Gene: Deficiencies of C5, 6, 7, 8, 9

A

C5, C6, C7, C8, C9

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5
Q

Affected Gene: Paroxysmal nocturnal hemoglobinuria

A

Genes involved in phosphatidylinositol biosynthesis

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6
Q

Affected Gene: NEMO deficiency (X-linked hypohidrotic ectodermal dysplasia)

A

IKBKG (Nemo, inhibitor of kB kinase-gamma)

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7
Q

Affected Gene: Chronic granulomatous disease

A

NOX1 (NADPH oxidase)

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8
Q

Affected Gene: MBL deficiency

A

MBL (mannose-binding lectin)

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9
Q

Affected Gene: NK- cell deficiency

A

GATA2

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10
Q

Affected Gene: Hyper-IgM deficiency

A

AICDA (activation-induced cytidine deaminase), or CD40 ligand or CD40, or IKBKG

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11
Q

Affected Gene: IgG2 deficiency

A

Unknown

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12
Q

Affected Gene: SCID

A

Various

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13
Q

Affected Gene: Omenn syndrome

A

RAG1 or RAG2 or Artemis

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14
Q

Affected Gene: MHC class I deficiency (bare lymphocyte syndrome type 1)

A

TAP1 or TAP2

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15
Q

Affected Gene: Pre-B-cell receptor deficiency

A

IGLL1

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16
Q

Affected Gene: X-linked agammaglobulinemia

A

BTK (Bruton’s tyrosine kinase)

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17
Q

Affected Gene: DiGeorge syndrome

A

Unknown

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18
Q

Affected Gene: APECED (autoimmune poly-endocrinopathhy-candidiasis-ectodermal dystrophy)

A

AIRE (autoimmune regulator)

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19
Q

Affected Gene: IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

A

FOXP3

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20
Q

Affected Gene: Zap-70 deficiency

A

ZAP-70

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21
Q

Affected Gene: C4A or C4B

A

C4A, C4B

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22
Q

Affected Gene: Selective IgA deficiency

A

Unknown

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23
Q

Immune Defect: Asplenia

A

Absence of spleen

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24
Q

Immune Defect: C3 deficiency

A

Lack of C3

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25
Q

Immune Defect: Factor I deficiency

A

Absence of Factor I and depleted C3

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26
Q

Immune Defect: Deficiencies of C5, 6, 7, 8, 9

A

Lack of complement mediated lysis

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27
Q

Immune Defect: Paroxysmal nocturnal hemoglobinuria

A

Lack of complement-regulatory proteins (DAF, HRF, and CD59)

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28
Q

Immune Defect: NEMO deficiency (X-linked hypohidrotic ectodermal dysplasia)

A

Impaired activation of NFkB

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29
Q

Immune Defect: Chronic granulomatous disease

A

Impaired neutrophil function

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30
Q

Immune Defect: MBL deficiency

A

Lack of mannose-binding lectin

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31
Q

Immune Defect: NK- cell deficiency

A

Absence of NK cells

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32
Q

Immune Defect: Hyper-IgM deficiency

A

No isotype switching or somatic hypermutation in B cells

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33
Q

Immune Defect: IgG2 deficiency

A

Lack of IgG2

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34
Q

Immune Defect: SCID

A

Absence of B and T-cell function

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35
Q

Immune Defect: Omenn syndrome

A

Impaired V(D)J recombination

36
Q

Immune Defect: MHC class I deficiency (bare lymphocyte syndrome type 1)

A

Low MHC class I expression

37
Q

Immune Defect: Pre-B-cell receptor deficiency

A

Lack of B cells and antibodies

38
Q

Immune Defect: X-linked agammaglobulinemia

A

B cells blocked at pro-B-cell stage

39
Q

Immune Defect: DiGeorge syndrome

A

Absence of thymus and T cells

40
Q

Immune Defect: APECED (autoimmune poly-endocrinopathhy-candidiasis-ectodermal dystrophy)

A

Reduced T cell tolerance to self antigens

41
Q

Immune Defect: IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

A

Lack of regulatory T cells and peripheral tolerance

42
Q

Immune Defect: Zap-70 deficiency

A

T cells that cannot signal through their antigen receptors

43
Q

Immune Defect: C4A or C4B

A

Impaired clearance of immune complexes

44
Q

Immune Defect: Selective IgA deficiency

A

Lack of IgA

45
Q

Susceptibility: Asplenia

A

Encapsulated extracellular bacteria

46
Q

Susceptibility: C3 deficiency

A

Recurrent infection with Gram - bacteria

47
Q

Susceptibility: Factor I deficiency

A

Encapsulated bacteria

48
Q

Susceptibility: Deficiencies of C5, 6, 7, 8, 9

A

Infections due to Neisseria species

49
Q

Susceptibility: Paroxysmal nocturnal hemoglobinuria

A

Lysis of erythrocytes by complement

50
Q

Susceptibility: NEMO deficiency (X-linked hypohidrotic ectodermal dysplasia)

A

Chronic bacterial and viral infections; developmental defects

51
Q

Susceptibility: Chronic granulomatous disease

A

Chronic bacterial and fungal infections

52
Q

Susceptibility: MBL deficiency

A

Neisseria meningitidis

53
Q

Susceptibility: NK- cell deficiency

A

Herpesvirus

54
Q

Susceptibility: Hyper-IgM deficiency

A

Extracellular bacterial and fungal infections

55
Q

Susceptibility: IgG2 deficiency

A

Encapsulated bacteria

56
Q

Susceptibility: SCID

A

All types of infection

57
Q

Susceptibility: Omenn syndrome

A

All types of infection

58
Q

Susceptibility: MHC class I deficiency (bare lymphocyte syndrome type 1)

A

Respiratory virus infections

59
Q

Susceptibility: Pre-B-cell receptor deficiency

A

Persistent bacterial infections

60
Q

Susceptibility: X-linked agammaglobulinemia

A

Recurrent bacterial infections

61
Q

Susceptibility: DiGeorge syndrome

A

All types of infection

62
Q

Susceptibility: APECED (autoimmune poly-endocrinopathhy-candidiasis-ectodermal dystrophy)

A

Autoimmune diseases

63
Q

Susceptibility: IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)

A

Autoimmune diseases

64
Q

Susceptibility: Zap-70 deficiency

A

All types of infections

65
Q

Susceptibility: C4A or C4B

A

Autoimmune disease and infections

66
Q

Susceptibility: Selective IgA deficiency

A

No major susceptibility…

67
Q

Affected Gene: X-linked lymphoproliferative syndrome

A

SH2D1A mutant

68
Q

Immune Defect: X-linked lymphoproliferative syndrome

A

Inability to control B cell growth

69
Q

Susceptibility: X-linked lymphoproliferative syndrome

A

EBV-driven B cell tumors

70
Q

Affected Gene: Ataxia telangiectasia

A

Gene with PI 3-kinase homology

71
Q

Immune Defect: Ataxia telangiectasia

A

T cells reduced

72
Q

Susceptibility: Ataxia telangiectasia

A

Respiratory infections

73
Q

Affected Gene: Bloom’s syndrome

A

DNA helicase

74
Q

Immune Defect: Bloom’s syndrome

A

T cells and antibody levels reduced

75
Q

Susceptibility: Bloom’s syndrome

A

Respiratory Infections

76
Q

Affected Gene: LAD (Leukocyte adhesion deficiency)

A

CD18 subunit of CR3, CR4, and LFA-1 adhesion molecules

77
Q

Immune Defect:

LAD (Leukocyte adhesion deficiency)

A

Defective migration of monocytes and neutrophils to infected tissues and defective uptake of opsonized pathogens

78
Q

Susceptibility: LAD (Leukocyte adhesion deficiency)

A

Encapsulated bacteria

79
Q

Affected Gene: G6PD Deficiency

A

Glucose-6-dehydrogenase

80
Q

Affected Gene: Myeloperoxidase Deficiency

A

Myeloperoxidase

81
Q

Affected Gene: Chediak-Higashi Syndrome

A

Lysosomal trafficking regulator protein

82
Q

Immune Defect: G6PD Deficiency

A

Defective respiratory burst. Phagocytes unable to kill pathogens

83
Q

Immune Defect: Myeloperoxidase Deficiency

A

Defective respiratory burst. Phagocytes unable to kill pathogens

84
Q

Immune Defect: Chediak-Higashi Syndrome

A

Defective fusion of endosomes and lysosomes. Defective phagocytosis

85
Q

Susceptibility: G6PD Deficiency

A

Chronic bacterial and fungal infections. Some infections induce anemia.

86
Q

Susceptibility: Myeloperoxidase Deficiency

A

Chronic bacterial and fungal infections

87
Q

Susceptibility: Chediak-Higashi Syndrome

A

Recurrent and persistent bacterial infections. Granulomas. Damaging effects to many organs.

Immunology2 (1 decks)

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