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deck_3459396 Flashcards

1
Q

What type of disorder is x-linked (Bruton)agammaglobulinemia?

A

B-cell disorder

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2
Q

What type of disorder is selective IgA deficiency?

A

B-cell disorder

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3
Q

What type of disorder is common variable immunodeficiency?

A

B-cell disorder

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4
Q

What is the defect in x-linked (Bruton) agammaglobulinemia?

A

Defect in BTK, a tyrosine kinase gene → no B-cell maturation. X-linked recessive (↑ in Boys).

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5
Q

What are the B-cell immunodeficiencies?

A
  • X-linked (Bruton) agammaglobulinemia- Selective IgA deficiency- Common variable immunodeficiency
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6
Q

How does x-linked (Bruton) agammaglobulinemia present?

A

Recurrent bacterial and enteroviral infections after 6 months (↓ maternal IgG).

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7
Q

What is the defect in selective IgA deficiency?

A

Unknown. Most common 1° immunodeficiency.

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8
Q

What are the findings in x-linked (Bruton) agammaglobulinemia?

A

Absent B cells in peripheral blood, ↓ Ig of all classes. Absent/scanty lymph nodes and tonsils.

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9
Q

How does selective IgA deficiency present?

A
  1. Majority Asymptomatic.2. Airway infections3. GI infections4. Autoimmune disease5. Atopy6. Anaphylaxis to IgA-containing products.
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10
Q

What are the findings in selective IgA deficiency?

A

↓ IgA with normal IgG, IgM levels.

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11
Q

What is the defect in common variable immunodeficiency?

A

Defect in B-cell differentiation. Many causes.

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12
Q

How does common variable immunodeficiency present?

A

Can be acquired in 20s–30s;↑ risk of autoimmune disease,bronchiectasis,lymphoma,sinopulmonary infections.

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13
Q

What are the findings in common variable immunodeficiency?

A

↓ plasma cells↓ immunoglobulins.

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14
Q

What are the T cell immunodeficiencies?

A
  • Thymic aplasia (DiGeorge syndrome)- IL-12 receptor deficiency- Autosomal dominant hyper-IgE syndrome (Job syndrome)- Chronic mucocutaneous candidiasis
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15
Q

What is the defect in thymic aplasia (DiGeorge syndrome)?

A

22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches → absent thymus and parathyroids.

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16
Q

How does thymic aplasia (DiGeorge syndrome) present?

A
  1. tetany (hypocalcemia)2. recurrent viral/fungal infections (T-cell deficiency)3. conotruncal abnormalities (e.g., tetralogy of Fallot, truncus arteriosus).
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17
Q

What are the findings in thymic aplasia (DiGeorge syndrome)?

A
  1. ↓ T cells2. ↓ PTH3. ↓ Ca2+4. Absent thymic shadow onCXR.5. 22q11 deletion detected by FISH.
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18
Q

What is the defect in IL-12 receptor deficiency?

A

↓ Th1 response. Autosomal recessive.

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19
Q

How does IL-12 receptor deficiency present?

A

Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine.

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20
Q

What are the findings in IL-12 receptor deficiency?

A

↓ IFN-γ

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21
Q

What is the defect in autosomal dominant hyper-IgE syndrome (Job syndrome)?

A

Deficiency of Th17 cells due to STAT3 mutation → impaired recruitment of neutrophils to sites of infection.

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22
Q

How does autosomal dominant hyper-IgE syndrome (Job syndrome) present?

A

FATED:- coarse Facies- cold (noninflamed) staphylococcal Abscesses- retained primary Teeth- ↑ IgE- Dermatologic problems (eczema).

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23
Q

What are the findings in autosomal dominant hyper-IgE syndrome (Job syndrome)?

A

↑ IgE↓ IFN-γ

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24
Q

What is the defect in chronic mucocutaneous candidiasis?

A

T-cell dysfunction. Many causes.

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25
Q

How does chronic mucocutaneous candidiasis present?

A

Noninvasive Candida albicans infections of skin and mucous membranes.

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26
Q

What are the findings in chronic mucocutaneous candidiasis?

A
  • Absent in vitro T-cell proliferation in response to Candida antigens.- Absent cutaneous reaction to Candida antigens.
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27
Q

What are the B- and T-cell disorders?

A
  • Severe combined immunodeficiency (SCID)- Ataxia-telangiectasia- Hyper IgM syndrome- Wiskott-Aldrich syndrome
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28
Q

What is the defect in severe combined immunodeficiency (SCID)?

A

Several types including:1. defective IL-2R gamma chain (most common, X-linked)2. adenosine deaminase deficiency (autosomal recessive).

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29
Q

How does severe combined immunodeficiency (SCID) present?

A
  1. failure to thrive2. chronic diarrhea3. thrush4. Recurrent viral, bacterial, fungal, and protozoal infections.Treatment: bone marrow transplant (no concern for rejection).
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30
Q

What are the findings in severe combined immunodeficiency (SCID)?

A
  1. ↓ T-cell receptor excision circles (TRECs)2. absence of thymic shadow (CXR)3. absence of germinal centers (lymph node biopsy)4. absence of T cells (flow cytometry).
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31
Q

What is the defect in ataxia-telangiectasia?

A

Defects in ATM gene → failure to repair DNA double strand breaks → cell cycle arrest.

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32
Q

How does in ataxia-telangiectasia present?

A

Triad:1. cerebellar defects (Ataxia)2. spider Angiomas (telangiectasia)3. IgA deficiency

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33
Q

What are the findings in t in ataxia-telangiectasia?

A
  1. ↑ AFP.2. ↓ IgA, IgG, and IgE3. Lymphopenia4. cerebellar atrophy
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34
Q

What is the defect in hyper-IgM syndrome?

A

Most commonly due to defective CD40L on Th cells → class switching defect; X-linked recessive.

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35
Q

How does hyper-IgM syndrome present?

A
  1. Severe pyogenic infections early in life2. opportunistic infection with Pneumocystis3. Cryptosporidium4. CMV
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36
Q

What are the findings in hyper-IgM syndrome?

A
  1. ↑ IgM2. ↓ ↓ IgG, IgA, IgE
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37
Q

What is the defect in Wiskott-Aldrich syndrome?

A

Mutation in WAS gene (X-linked recessive); T cells unable to reorganize actin cytoskeleton.

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38
Q

How does Wiskott-Aldrich syndrome present?

A

WATER: Wiskott-Aldrich:1. Thrombocytopenic purpura2. Eczema3. Recurrent infections4. ↑ risk of autoimmune disease and malignancy

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39
Q

What are the findings in Wiskott-Aldrich syndrome?

A
  1. ↓ to normal IgG, IgM2. ↑ IgE, IgA3. Fewer and smaller platelets
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40
Q

What are the phagocyte dysfunction immunodeficiencies?

A
  • Leukocyte adhesion deficiency (type 1)- Chediak-Higashi syndrome- Chronic granulomatous disease
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41
Q

What is the defect in leukocyte adhesion deficiency (type 1)?

A

Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive.

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42
Q

How does leukocyte adhesion deficiency (type 1) present?

A
  • recurrent bacterial skin and mucosal infections- absent pus formation- impaired wound healing- delayed separation of umbilical cord (> 30 days)
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43
Q

What are the findings in leukocyte adhesion deficiency (type 1)?

A
  1. ↑ neutrophils2. absence of neutrophils atinfection sites
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44
Q

What is the defect in Chédiak-Higashi syndrome?

A

Defect in lysosomal trafficking regulator gene (LYST). Microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive.

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45
Q

How does Chédiak-Higashi syndrome present?

A
  1. Recurrent pyogenic infections by staphylococci and streptococci2. partial albinism3. peripheral neuropathy4. progressive neurodegeneration5. infiltrative lymphohistiocytosis
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46
Q

What are the findings in Chédiak-Higashi syndrome?

A
  1. Giant granules in granulocytes and platelets2. Pancytopenia3. Mild coagulation defects
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47
Q

What is the defect in chronic granulomatous disease?

A

Defect of NADPH oxidase → ↓ reactive oxygen species (e.g., superoxide) and ↓ respiratory burst in neutrophils; X-linked recessive most common.

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48
Q

How does chronic granulomatous disease present?

A

↑ susceptibility to catalase ⊕ organisms (Need PLACESS):- Nocardia- Pseudomonas- Listeria- Aspergillus- Candida- E. coli- S. aureus- Serratia

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49
Q

What are the findings in chronic granulomatous disease?

A

Abnormal dihydrorhodamine (flow cytometry) test.Nitroblue tetrazolium dye reduction test is ⊝.

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50
Q

↓ T cells cause these bacterial infections:

A

Sepsis

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51
Q

↓ T cells cause these viral infections:

A
  1. CMV2. EBV3. JCV4. VZV5. Chronic infection with respiratory/GI viruses
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52
Q

↓ T cells cause these fungal/parasitic infections:

A
  1. Candida (local)2. PCP
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53
Q

↓ B cells cause these bacterial infections:

A

Encapsulated:1. Streptococcus pneumoniae2. Haemophilus influenzae type B3. Neisseria meningitidis4. Escherichia coli5. Salmonella6. Klebsiella pneumoniae7. group B Strep(SHiNE SKiS)

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54
Q

↓ B cells cause these viral infections:

A
  1. Enteroviral encephalitis2. Poliovirus (live vaccine contraindicated)
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55
Q

↓ B cells cause these fungal/parasitic infections:

A

GI giardiasis (no IgA)

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56
Q

↓ granulocytes cause these bacterial infections:

A
  1. Staphylococcus2. Burkholderia cepacia3. Pseudomonas aeruginosa4. Serratia5. Nocardia
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57
Q

↓ granulocytes cause these viral infections:

A

N/A

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58
Q

↓ granulocytes cause these fungal/parasitic infections:

A
  1. Candida (systemic)2. Aspergillus
59
Q

↓ complement causes these bacterial infections:

A
  1. Encapsulated species with early component deficiencies2. Neisseria with late component (MAC) deficiencies
60
Q

↓ complement causes these viral infections:

A

N/A

61
Q

↓ complement causes these fungal/parasitic infections:

A

N/A

62
Q

General rules about B and T cell deficiency infections:

A

B-cell deficiencies tend to produce recurrent bacterial infections, whereas T-cell deficiencies produce more fungal and viral infections.

63
Q

Autograft

A

from self

64
Q

Syngeneic graft (isograft)

A

from identical twins or clone

65
Q

Allograft

A

from nonidentical individual of same species

66
Q

Xenograft

A

from different species

67
Q

Hyperacute transplant rejection onset

A

within minutes

68
Q

Acute transplant rejection onset

A

weeks to months

69
Q

Chronic transplant rejection onset

A

months to years

70
Q

Graft vs. host disease onset

A

varies

71
Q

Hyperacute transplant rejection pathogenesis

A

Pre-existing recipient antibodies react to donor antigen (type II hypersensitivity reaction), activate complement.

72
Q

Acute transplant rejection pathogenesis

A

Cellular: CD8+ T cells activated against donor MHCs.Humoral: similar to hyperacute, except antibodies develop after transplant.

73
Q

Chronic transplant rejection pathogenesis

A

CD4+ T cells respond to recipient APCs presenting donor peptides, including allogeneic MHC .Both cellular and humoral components.

74
Q

Graft vs. host disease pathogenesis

A

Grafted immunocompetent T cells proliferate in theimmunocompromised host and reject host cells with “foreign” proteins → severe organ dysfunction.

75
Q

Hyperacute transplant rejection features

A

Widespread thrombosis of graft vessels → ischemia/necrosis. Graft must be removed.

76
Q

Acute transplant rejection features

A

Vasculitis of graft vessels with dense interstitial lymphocytic infiltrate. Prevent/reverse with immunosuppressants.

77
Q

Chronic transplant rejection features

A

Recipient T cells reactand secrete cytokines → proliferation of vascular smooth muscle and parenchymal fibrosis. Dominated by arteriosclerosis.

78
Q

Graft vs. host disease rejection features

A
  • Maculopapular rash
  • jaundice
  • diarrhea
  • hepatosplenomegalyUsually in bone marrow and liver transplants (rich in lymphocytes). Potentially beneficial inbone marrow transplant for leukemia (graft-versus-tumor effect).
79
Q

What is the autoantibody associated with this disorder?myasthenia gravis

A

Anti-ACh receptor

80
Q

What is the autoantibody associated with this disorder?Goodpasture syndrome

A

Anti-basement membrane

81
Q

What is the autoantibody associated with this disorder?SLE, antiphosphlipid syndrome

A

Anticardiolipin, lupus anticoagulant

82
Q

What is the autoantibody associated with this disorder?Limited scleroderma (CREST syndrome)

A

Anticentromere

83
Q

What is the autoantibody associated with this disorder?Pemphigus vulgaris

A

Anti-desmosome (anti-desmoglein)

84
Q

What is the autoantibody associated with this disorder?SLE

A

Anti-dsDNA, anti-Smith

85
Q

What is the autoantibody associated with this disorder?Type I diabetes mellitus

A

Anti-glutamic acid decarboxylase (GAD-65)

86
Q

What is the autoantibody associated with this disorder?bullous pemphigoid

A

Antihemidesmosome

87
Q

What is the autoantibody associated with this disorder?drug-induced lupus

A

Anti-histone

88
Q

What is the autoantibody associated with this disorder?Polyomositis, dermatomyositis

A

Anti-Jo-1, anti-SRP, anti-Mi-2

89
Q

What is the autoantibody associated with this disorder?Hashimoto thyroiditis

A

Antimicrosomal, antithyroglobulin

90
Q

What is the autoantibody associated with this disorder?Primary biliary cirrhosis

A

Antimitochondrial

91
Q

What is the autoantibody associated with this disorder?SLE, nonspecific

A

Antinuclear antibodies

92
Q

What is the autoantibody associated with this disorder?Pernicious anemia

A

Antiparietal cell

93
Q

What is the autoantibody associated with this disorder?Scleroderma (diffuse)

A

Anti-Scl-70 (anti-DNA topoisomerase I)

94
Q

What is the autoantibody associated with this disorder?Autoimmune hepatitis

A

Anti-smooth muscle

95
Q

What is the autoantibody associated with this disorder?Sjogren syndrome

A

Anti-SSA, anti-SSB (anti-Ro, anti-La)

96
Q

What is the autoantibody associated with this disorder?Graves disease

A

Anti-TSH receptor

97
Q

What is the autoantibody associated with this disorder?Mixed connective tissue disease

A

Anti-U1 RNP (ribonucleoprotein)

98
Q

What is the autoantibody associated with this disorder?Celiac disease

A

IgA anti-endomysial, IgA anti-tissue transglutaminase

99
Q

What is the autoantibody associated with this disorder?Microscopic polyangiitis, eosinophilic granulomatosis with polyangiitsi (Churg-Strauss syndrome)

A

MPO-ANCA/p-ANCA

100
Q

What is the autoantibody associated with this disorder?Granulomatosi with polyangiitis (Wegener)

A

PR3-ANCA/c-ANCA

101
Q

What is the autoantibody associated with this disorder?Rheumatoid arthritis

A

Rheumatoid factor, anti-CCP (more specific)

102
Q

Examples of a type I hypersensitivity disorder

A

Allergic and atopic disordersAnaphylaxis

103
Q

What are examples of allergic and atopic disorders?

A
  • rhinitis- hay fever- eczema-hives- asthma
104
Q

What can cause anaphylaxis?

A
  • bee sting- some food/drug allergies
105
Q

Examples of a type II hypersensitivity reaction

A
  • Acute hemolytic transfusion reactions
  • Autoimmune hemolytic anemia
  • Bullous pemphigoid
  • Erythroblastosis fetalis
  • Goodpasture syndrome
  • Graves disease
  • Guillain-Barré syndrome
  • Idiopathic thrombocytopenic purpura
  • Myasthenia gravis
  • Pemphigus vulgaris
  • Pernicious anemia
  • Rheumatic fever
106
Q

How does a type I allergic reaction present?

A

Immediate, anaphylactic, atopic

107
Q

​What type of hypersensitivity disorder?Allergic and atopic disorders

A

Type I

108
Q

What type of hypersensitivity disorder?Anaphylaxis

A

Type I

109
Q

How does a type II alergic reaction present?

A

Disease tends to be specific to tissue or site where antigen is found

110
Q

What type of hypersensitivity reaction is this?Acute hemolytic transfusion reactions

A

Type II

111
Q

What type of hypersensitivity reaction is this?Autoimmune hemolytic anemia

A

Type II

112
Q

What type of hypersensitivity reaction is this?Bullous pemphigoid

A

Type II

113
Q

What type of hypersensitivity reaction is this?Erythroblastosis fetalis

A

Type II

114
Q

What type of hypersensitivity reaction is this?Goodpasture syndrome

A

Type II

115
Q

What type of hypersensitivity reaction is this?Graves disease

A

Type II

116
Q

What type of hypersensitivity reaction is this?Guillain-Barré syndrome

A

Type II

117
Q

What type of hypersensitivity reaction is this?Idiopathic thrombocytopenic purpura

A

Type II

118
Q

What type of hypersensitivity reaction is this?Myasthenia gravis

A

Type II

119
Q

What type of hypersensitivity reaction is this?Pemphigus vulgaris

A

Type II

120
Q

What type of hypersensitivity reaction is this?Pernicious anemia

A

Type II

121
Q

What type of hypersensitivity reaction is this?Rheumatic fever

A

Type II

122
Q

Examples of a type III hypersensitivity reaction

A
  • Arthus reaction (e.g., swelling and inflammation following tetanus vaccine)
  • SLE
  • Polyarteritis nodosa
  • Poststreptococcal glomerulonephritis
  • Serum sickness
123
Q

How does a type III hypersensitivity reaction present?

A

Can be associated with vasculitis and systemic manifestations

124
Q

What type of hypersensitivity reaction is this?Arthus reaction

A

Type III

125
Q

What type of hypersensitivity reaction is this?SLE

A

Type III

126
Q

What type of hypersensitivity reaction is this?Polyarteritis nodosa

A

Type III

127
Q

What type of hypersensitivity reaction is this?Poststreptococcal glomerulonephritis

A

Type III

128
Q

What type of hypersensitivity reaction is this?Serum sickness

A

Type III

129
Q

Examples of a type IV hypersensitivity reaction

A
  • Contact dermatitis (e.g., poison ivy, nickel allergy)
  • Graft-versus-host disease
  • Multiple sclerosis
  • PPD (test for M. tuberculosis)
130
Q

What can cause contact dermatitis?

A

poison ivy and nickel allergy

131
Q

How does a type IV hypersensitivity reaction present?

A

Response is delayed and does not involve antibodies (vs. types I, II, and III)

132
Q

What type of hypersensitivity reaction is this?Contact dermatitis

A

Type IV

133
Q

What type of hypersensitivity reaction is this?Graft-versus-host disease

A

Type IV

134
Q

What type of hypersensitivity reaction is this?Multiple sclerosis

A

Type IV

135
Q

What type of hypersensitivity reaction is this?PPD

A

Type IV

136
Q

What is the pathogenesis of a transfusionallergic reaction?

A

Type I hypersensitivity reaction against plasma proteins in transfused blood.

137
Q

How does a transfusion allergic reaction present?

A
  • Urticaria
  • pruritus
  • wheezing
  • feverTreat with antihistamines.
138
Q

What is the pathogenesis of a transfusion anaphylactic reaction?

A

Severe allergic reaction. IgA-deficient individuals must receive blood products without IgA.

139
Q

How does a transfusion anaphylactic reaction present?

A
  • dyspnea
  • bronchospasm
  • hypotension
  • respiratory arrest
  • shockTreat with epinephrine.
140
Q

What is the pathogenesis of a febrile nonhemolytic transfusion reaction?

A

Type II hypersensitivity reaction. Host antibodies against donor HLA antigens and WBCs.

141
Q

How does a febrile nonhemolytic transfusion reaction present?

A
  • fever
  • headaches
  • chills
  • flushing
142
Q

What is the pathogenesis of an acute hemolytic transfusion reaction?

A

Type II hypersensitivity reaction. Intravascular hemolysis (ABO blood group incompatibility) or extravascular hemolysis (host antibody reaction against foreign antigen on donor RBCs).

143
Q

How does an acute hemolytic transfusion reaction present?

A
  • Fever
  • hypotension
  • tachypnea
  • tachycardia
  • flank pain
  • hemoglobinuria (intravascular hemolysis)
  • jaundice (extravascular)

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