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MF2 Immunology > Immunodeficiency Disorders > Flashcards

Immunodeficiency Disorders Flashcards

1
Q

Abscesses, adenitis, severe bacterial infections, poor wound healing and periodontal disease are caused by disorders of these

A

Phagocytes

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2
Q

Failure to thrive, severe viral infections, pneumocystis, candida and low TRECs are caused by disorders of these

A

T cells

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3
Q

Recurrent sinopulmonary infections, Enteroviral meningoencephalitis, Bronchiectasis and Recurrent gastroenteritis are caused by disorders of these

A

B cells

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4
Q

Neisseria, Early-onset Lupus and Encapsulated bacterial infections are caused by disorders of these

A

Complement

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5
Q

Disease that characteristically results from complement disorders

A

Neisseria

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6
Q

Neisseria is characteristically the result of this type of disorder

A

Complement

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7
Q

X linked disorder caused by lack of immunoglobulin due to defective B cell maturation
Defective btk gene prevents Ig gene rearrangement

A

Bruton X-linked Agammaglobulinemia

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8
Q

Bruton X-linked Agammaglobulinemia involves a lack of this

A

Immunoglobulin

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9
Q

Bruton X-linked Agammaglobulinemia involves a lack of immunoglobulin due to defective this

A

Defective B cell maturation
Due to defect btk gene (bruton tyrosine kinase) that prevents Ig gene rearrangement

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10
Q

In Bruton X-linked Agammaglobulinemia, B cell maturation stops at this stage

A

Pre-B stage
So very low B cells circulating in blood since this stage occurs in the bone marrow

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11
Q

What age does Bruton X-linked Agammaglobulinemia present?

A

After 6 months of age, some as late as teens
(protected from birth to 6 months due to passive immunity from mother)

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12
Q

Condition that is vulnerable to live vaccines

A

Bruton X-linked Agammaglobulinemia

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13
Q

Bruton X-linked Agammaglobulinemia patients are vulnerable to this type of vaccine

A

Live vaccines

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14
Q

Does Bruton X-linked Agammaglobulinemia affect cell-mediated immunity?

A

No; cell-mediated immunity is intact
Still resistant to protozoal, fungal, intracellular virus

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15
Q

Laboratory values of antibodies in Bruton X-linked Agammaglobulinemia

A

No/low antibodies of all classes

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16
Q

Laboratory values of B cells in Bruton X-linked Agammaglobulinemia

A

No/low B cells in peripheral blood

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17
Q

Laboratory values of T cells in Bruton X-linked Agammaglobulinemia

A

High/normal T cells in peripheral blood

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18
Q

Recurrent mucosal infections (otitis, sinusitis, bronchitis), Pyoderma, meningitis, sepsis, some viral infections (hepatitis, enterovirus, polio), and lymphoid hypoplasia (tonsils, lymph nodes) are clinical symptoms of this condition

A

Bruton X-linked Agammaglobulinemia

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19
Q

Condition caused by an inability to produce IgA
Very common in Europeans

A

Selective IgA deficiency

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20
Q

Laboratory values of B cells in Selective IgA deficiency

A

Normal

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21
Q

Laboratory values of Ig classes that are not IgA in Selective IgA deficiency

A

Normal

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22
Q

Laboratory values of IgA in Selective IgA deficiency

A

Low

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23
Q

Condition caused by impaired differentiation of naive B cells that causes impaired class switching to IgA plasma cells

A

Selective IgA deficiency

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24
Q

Selective IgA deficiency is common in people of this descent

A

European
Less common in Asia/Africa

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25
Q

Usual clinical symptoms of Selective IgA deficiency

A

Usually asymptomatic

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26
Q

Usually asymptomatic, increased respiratory, GI, GU infections, increased rates of allergy and autoimmune disorders, risk of anaphylaxis with blood products

A

Selective IgA deficiency

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27
Q

Patients with Selective IgA deficiency have risk of this with blood products

A

Anaphylaxis

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28
Q

Condition involving defective humoral immunity due to defective class switching

A

Hyper-IgM Syndrome

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29
Q

Two mechanisms that may cause Hyper-IgM Syndrome

A

Defective CD40L on CD4 T cell (X-linked)
CD40 or genes on B cell, macrophage, DC

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30
Q

Levels of immunoglobulins in Hyper-IgM Syndrome caused by defective CD40L on CD4 T cell

A

Normal IgM
Very low IgG and IgA

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31
Q

Levels of immunoglobulins in Hyper-IgM Syndrome caused by CD40 or genes on B cell, macrophage, DC

A

High polyclonal IgM
Very low IgA and IgG

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32
Q

Inheritance pattern of Hyper-IgM Syndrome caused by defective CD40L on CD4 T cell

A

X-linked

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33
Q

Inheritance pattern of Hyper-IgM Syndrome caused by CD40 or genes on B cell, macrophage, DC

A

Autosomal Recessive

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34
Q

Defective CD40L on CD4 T cell or CD40 or genes on B cell, macrophage, DC can cause this syndrome

A

Hyper-IgM Syndrome

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35
Q

Condition characterized by normal/increased IgM with low/absent IgG, IgA, IgE

A

Hyper-IgM Syndrome

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36
Q

Hyper-IgM Syndrome most commonly has this inheritance pattern

A

X-linked

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37
Q

Lymphoid counts in Hyper-IgM Syndrome

A

Normal
Absent germinal centers

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38
Q

State of germinal centers in Hyper-IgM Syndrome

A

Absent

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39
Q

2 treatments for Hyper-IgM Syndrome

A

IVIG
Bone marrow transplant

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40
Q

Recurrent pyogenic infections due to decreased opsonization, pneumocystis or Histoplasma pneumonia (due to macrophage dysfunction), and Cryptosporidium enteritis are clinical symptoms of this condition

A

Hyper-IgM Syndrome

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41
Q

Condition characterized by normal B cell numbers but no plasma cells
All Ig classes affected

A

Common variable immune deficiency

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42
Q

Onset of Common variable immune deficiency

A

Late childhood/teen onset

43
Q

Recurrent sinopulmonary infections, meningoencephalitis, diarrheal illnesses (Giardia commonly), often with splenomegaly and lymphadenopathy are clinical symptoms of this condition

A

Common variable immune deficiency

44
Q

Numbers of B cells in Common variable immune deficiency

A

Normal
(no B cell differentiation so no plasma cells)

45
Q

Number of plasma cells in Common variable immune deficiency

A

None
Normal B cell numbers but no B cell differentiation

46
Q

Splenomegaly and lymphadenopathy are characteristic of this syndrome

A

Common variable immune deficiency
B cell proliferation but no plasma cell differentiation

47
Q

Condition characterized by B cell proliferation but no plasma cell differentiation

A

Common variable immune deficiency

48
Q

Condition involving defective T cell function due to thymic hypo/aplasia

A

DiGeorge Syndrome

49
Q

DiGeorge Syndrome involves anomalies of these pharyngeal pouches

A

3rd and 4th

50
Q

Condition characterized by cardiac anomaly, parathyroid and hypocalcemia, thymic hypoplasia (T cell deficiency), abnormal face (micrognathia, slanted ears and eyes, cleft palate), and opportunistic infections

A

DiGeorge Syndrome

51
Q

Micrognathia, slanted ears and eyes, and cleft palate are characteristic facial abnormalities of this condition

A

DiGeorge Syndrome

52
Q

Hypocalcemia is characteristic of this condition

A

DiGeorge Syndrome

53
Q

Thymic hypoplasia that leads to mild T cell deficiency (tends to improve) or Thymic aplasia that leads to severe T cell deficiency is characteristic of this condition

A

DiGeorge Syndrome

54
Q

5 characteristic effects of DiGeorge Syndrome

A

CATCH-22
Cardiac (especially aortic arch, ASD, VSD)
Abnormal face (micrognathia, slanted ears and eyes, cleft palate)
Thymic hypoplasia (T cell deficiency)
Cleft Palate
Hypocalcemia (parathyroid)

55
Q

Hereditary immunodeficiency due to defective cell mediated and humoral immunity

A

Severe combined immunodeficiency

56
Q

X-linked form of Severe combined immunodeficiency

A

Mutation of gamma chain of interleukin receptor (IL-2, 4, 7, 9, 15)
Result: absent T cell maturation in thymus (IL-7 mediated)

57
Q

Autosomal recessive form of Severe combined immunodeficiency

A

Mostly adenosine deaminase deficiency
Result: DNA synthesis inhibition, especially affects lymphocyte proliferation and gene rearrangements

58
Q

Prognosis of Severe combined immunodeficiency

A

Death by 1 year

59
Q

Form of Severe combined immunodeficiency that involves a mutation of gamma chain of interleukin receptor (IL-2, 4, 7, 9, 15)

60
Q

Form of Severe combined immunodeficiency that is mostly adenosine deaminase deficiency

A

Auto recessive

61
Q

Form of Severe combined immunodeficiency that results in absent T cell maturation in thymus

62
Q

Form of Severe combined immunodeficiency that results in DNA synthesis inhibition, especially affects lymphocyte proliferation and gene rearrangements

A

Auto recessive

63
Q

Treatment for Severe combined immunodeficiency

A

Bone marrow transplant

64
Q

Condition characterized by frequent infections in early infancy and often develop graft vs host disease

A

Severe combined immunodeficiency

65
Q

Condition where attenuated vaccines cause productive infections

A

Severe combined immunodeficiency

66
Q

In Severe combined immunodeficiency, this type of vaccine leads to productive infections

A

Attenuated

67
Q

Condition characterized by very low lymphocyte numbers
Small thymus with no lymphocytes or Hassal’s corpuscles

A

Severe combined immunodeficiency

68
Q

Small thymus with no lymphocytes or Hassal’s corpuscles is characteristic of this condition

A

Severe combined immunodeficiency

69
Q

X-linked condition caused by a defect in WASP gene product

A

Wiskott-Aldrich syndrome

70
Q

What causes Wiskott-Alrich syndrome?

A

X-linked defect in WASP gene product

71
Q

T cell counts in Wiskott-Aldrich syndrome

A

Low
(defective T cell survival)

72
Q

Wiskott-Aldrich syndrome leads to defective survival of these

73
Q

State of the thymus in Severe combined immunodeficiency?

A

Small
With no lymphocytes or Hassal’s corpuscles

74
Q

State of the thymus in Wiskott-Aldrich syndrome

A

Normal at birth, early atrophy

75
Q

Levels of IgM in Wiskott-Aldrich syndrome

76
Q

Levels of IgG in Wiskott-Aldrich syndrome

77
Q

Levels of IgE and IgA in Wiskott-Aldrich syndrome

78
Q

Levels of Antibodies (IgM, IgG, IgE, IgA) in Wiskott-Aldrich syndrome

A

Low IgM
Normal IgG
High IgE and IgA

79
Q

Immunodeficiency, thrombocytopenia, and atopic dermatitis is a triad characteristic of this condition

A

Wiskott-Aldrich syndrome

80
Q

Triad characteristic of Wiskott-Aldrich syndrome

A

Immunodeficiency (frequent infections with encapsulated bacteria)
Thrombocytopenia (bleeding disorder)
Atopic dermatitis

81
Q

Prognosis of Wiskott-Aldrich syndrome

A

Early death without stem cell treatment

82
Q

Condition involving an autosomal recessive defective DNA repair enzyme ATM

A

Ataxia-Telangiectasia

83
Q

What causes Ataxia-Telangiectasia?

A

Autosomal recessive defective DNA repair enzyme ATM

84
Q

Inheritance pattern of Wiskott-Aldrich syndrome

85
Q

Inheritance pattern of Ataxia-Telangiectasia

A

Autosomal recessive

86
Q

Progressive ataxia (with other neurologic deficits), Oculocutaneous Telangiectasis, and Immunodeficiency (due to defective Ig rearrangement) is a triad characteristic of this condition

A

Ataxia-Telangiectasia

87
Q

Triad characteristic of Ataxia-Telangiectasia

A

Progressive ataxis
Oculocutaneous Telangiectasis
Immunodeficiency

88
Q

Levels of immunoglobulins in Ataxia-Telangiectasia

89
Q

Treatment for Ataxia-Telangiectasia

90
Q

Persistence of this in C1 Inhibitor Deficiency (aka hereditary angioedema) leads to recurrent episodes of edema

A

Bradykinin

91
Q

C1 inhibitor inhibits C1r and C1s, as well as these other two molecules

A

Bradykinin
Hagemann Factor

92
Q

In C1 Inhibitor Deficiency (aka hereditary angioedema), this type of involvement may be fatal

93
Q

Condition characterized by edema of skin, genitals, intestinal tract, larynx, others
Non-painful, non-pruritic, non-pitting

A

C1 Inhibitor Deficiency (aka hereditary angioedema)

94
Q

Immunodeficiency involving lymphoid hypoplasia

A

Bruton X-linked Agammaglobulinemia

95
Q

Immunodeficiency involving recurrent mucosal infections
(otitis, sinusitis, bronchitis)

A

Bruton X-linked Agammaglobulinemia

96
Q

Immunodeficiency that may have increased respiratory, GI, GU infections (Giardia especially)

A

Selective IgA deficiency

97
Q

Immunodeficiency with increased rates of allergy and autoimmune disorders (SLE and RA especially, Celiac disease)

A

Selective IgA deficiency

98
Q

Immunodeficiency involving recurrent pyogenic infections due to decreased opsonization

A

Hyper-IgM syndrome

99
Q

Immunodeficiency with Recurrent sinopulmonary infections common, Meningoencephalitis, Diarrheal illnesses (Giardia commonly)

A

Common variable immune deficiency

100
Q

T cell counts in DiGeorge syndrome

101
Q

Ig levels in DiGeorge syndrome

102
Q

Patients with this have GVHD risk with blood transfusion

A

DiGeorge syndrome

103
Q

Immunodeficiency characterized by frequent infections in early infancy

A

Severe combined immunodeficiency

104
Q

Patient with Ataxia-Telangiectasia have increased tumorigenesis, especially this

MF2 Immunology (21 decks)

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