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Pathology > Immunodeficiency disorders > Flashcards

Immunodeficiency disorders Flashcards

1
Q

When do immunodeficiencies usually appear?

A

6 mo to 2 yo

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2
Q

What are the two causes of Pro-T cell deficiency?

A

ADA deficiency

X-linked SCID

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3
Q

What cells are the conductors of the immune system?

A

CD4 cells

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4
Q

What is the disease the prevents the maturation of T cells?

A

DiGeorge syndrome (hypoplastic thymus)

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5
Q

What is X-linked agammaglobinemia of Burton caused by?

A

XR mutation in a Y kinase responsible for pre to mature B cell signals

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6
Q

What is the protein that is deficient in X-linked agammaglobinemia of Burton?

A

Bruton tyrosine kinase

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7
Q

What is the characteristic finding of X-linked agammaglobinemia of Burton ?

A

No B cells in the blood

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8
Q

What are the clinical features of X-linked agammaglobinemia of Burton? What type of bacteria are particularly troublesome for these pts?

A

Recurrent infxs after maternal antibodies gone

pyogenic bacteria

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9
Q

What is the treatment for X-linked agammaglobinemia of Burton ?

A

Parenteral immunoglobulin replacement

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10
Q

Why is there an increase in autoimmune disorders with X-linked agammaglobinemia of Burton?

A

breakdown in self tolerance or to chronic infection

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11
Q

Why don’t you give live viral vaccines with X-linked agammaglobinemia of Burton?

A

No B cells to kill off live virus

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12
Q

When does common variable immunodeficiency present? What is the M:F?

A

2-3rd decade of life 1:1 M:F

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13
Q

What is common variable immunodeficiency?

A

Variable inheritance, but hypogammaglobulinemia of (usually) all IgG classes d/t B cell inability or lack of T cell stimulation

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14
Q

What happens to B cells in common variable immunodeficiency?

A

Increase number of B cells, because they can’t produce much antibodies

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15
Q

What are the symptoms of common variable immunodeficiency?

A

Recurrent bacterial infx d/t lack of IgA

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16
Q

True or false: patients with common variable immunodeficiency have a lower incidence of autoimmune disorders and CA

A

False–higher

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17
Q

What is selective IgA deficiency?

A

Lack of IgA production, leading to mild symptoms or recurrent sinus infx

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18
Q

selective IgA deficiency is associated with what two diseases?

A

Toxoplasmosis

Measles

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19
Q

True or false: there is still some IgA in selective IgA deficiency

A

True

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20
Q

Why do you have to be careful when giving IVIG to selective IgA deficiency pts?

A

40% have anti-IgA Ab

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21
Q

What is hyper IgM syndrome?

A

Disorder characterized by a failure of T cells to induce B cell isotype switching from IgM to other types.

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22
Q

How do B cells normally induce isotype switching?

A

signal between CD40/CD40 molecule link between T cells. This is altered in

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23
Q

True or false: hyper IgM syndrome is due to incorrect amount of B cells and/or T cells?

A

False–B and T cells couns normal

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24
Q

What is the inheritance pattern of hyper IgM syndrome?

A

X linked in 70% of cases, other AR

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25
Q

What is the mutation involved in hyper IgM syndrome?

A

CD40 gene mutation or the deaminase enzyme it needs

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26
Q

What are the symptoms of hyper IgM syndrome? (3)

A

Recurrent pyogenic infections
Autoimmune hemolytic anemia
GIT lymphoid hyperplastic accumulations

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27
Q

What causes the immune problems in DiGeorge syndrome?

A

Partial or complete interruption of the 3rd and 4th pharyngeal pouch = thymus aplasia

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28
Q

What are the features of DiGeorge syndrome?

A

Cleft palate
T cell defect
Hypocalcemia

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29
Q

Are immunoglobin levels altered in DiGeorge syndrome?

A

No–T cells deficiency, not B cells

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30
Q

What is the genetic mutation associated with DiGeorge syndrome?

A

22q11 Deletion

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31
Q

What are the types of infections that pts with DiGeorge syndrome have problems fighting off?

A

Viruses and fungi

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32
Q

What are the facial defects of DiGeorge syndrome?

A

Cleft palate

Micrognathia

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33
Q

What are the cardiac defects of DiGeorge syndrome?

A

VSD, right subclavian artery is derived from the pulmonary artery

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34
Q

What is the prognosis of DiGeorge syndrome if there is thymus hypoplasia? Aplasia?

A 
Hypoplasia = immune defect resolves by age 5
Aplasia = death unless given thymus transplant
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35
Q

What is SCID?

A

Deficient cellular and humoral immune response d/t variable genetic transmissions

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36
Q

What is the more common form of SCID: T cell defect, B cell defect, or combined?

A

T cell is more common

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37
Q

What is the mode of inheritance of SCID?

A

X linked for 60% of cases

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38
Q

What is the mutation involved in SCID? in the X link recessive pattern?

A

loss of gamma chain subunit of cytokine receptors, leading to a loss in interleukin pathway

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39
Q

What is the mutation involved in SCID? in the AR pattern?

A

Adenosine deaminase deficiency, leading to build up of toxic metabolites in lymphocytes

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40
Q

What are the clinical features of SCID?

A

early onset opportunistic infections.

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41
Q

What is the treatment for SCID?

A

Bone marrow transplant, gene therapy for ADA

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42
Q

What is Wiskott-Aldrich syndrome? Mode of inheritance?

A

XR of males causing immunodeficiency, rash, and thrombocytopenia

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43
Q

What is the mutation involved in Wiskott-Aldrich syndrome? What is this protein involved in?

A

Xp11.23–responsible for cytoskeletal maintenance receptors, leading to depletion of T and B cells

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44
Q

What are the clinical features of Wiskott_aldrich syndrome?

A

Ab levels normal, except IgM, which is low

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45
Q

What are the clinical features of Wiskott-aldrich syndrome? (abs, T cells)

A

Ab levels normal, except IgM, which is low.
Abs do not function
T cell deficiency

46
Q

What are the symptoms of Wiskott-Aldrich syndrome?

A

Hemorrhagic diathesis

Recurrent URIs

47
Q

What is the treatment for Wiskott-Aldrich syndrome?

A

Bone marrow transplant

48
Q

Why are immune deficiencies and autoimmunity linked? (2)

A

Lower regulatory T cells

Persistent microbial infx leads to altered immune response.

49
Q

Which are more common, secondary or primary immunodeficiencies?

A

secondary

50
Q

What are secondary immunodeficiencies?

A

Immune impairment in previously healthy people

51
Q

Are secondary immunodeficiencies reversible?

A

Yes, if underlying condition is treated

52
Q

What is the target of HIV?

A

Th4 CD4 cells

53
Q

What does the gp120 protein of HIV bind to?

A

CD4

54
Q

What is the genome type of HIV?

A

dsRNA (retroviridae)

55
Q

What is the attachment protein of HIV? Fusion protein?

A 
Attachment = gp120
Fusion = gp41
56
Q

What are the two coreceptors for HIV?

A

CCR5

CXCR4

57
Q

Which cofactor of HIV gp120 protein do some patients have protection against?

A

CCR5

58
Q

WHat is the protein that aids in HIV’s entrance into a cell?

A

Integrase

59
Q

What are the three routes of CD4 T cell death in HIV?

A
  1. viral escape
  2. Apoptosis
  3. CTL attack
60
Q

What are HIV’s effects on polyclonal B cells ?

A

Polyclonal B cell activation with hypergammaglobulinemia, yet impaired specific B cell response to new antigen

61
Q

How are macrophages affected in HIV?

A

Decrease in MHC class II expression, and Ag presentation

62
Q

What is the effect of HIV on NK cells?

A

Decreased killing of tumor cells

63
Q

What is the effect of HIV on CTLs?

A

Decreased specific cytotoxicity

64
Q

What are the acute phase symptoms of HIV?

A

Viral replication, viremia, viral seeding of lymp tissue

65
Q

What are the chronic phase symptoms of HIV?

A

Weight loss, night sweats

66
Q

When are the anti-envelope antibodies to HIV elevated?

A

Throughout the course of the disease

67
Q

When are the anti-p24 antibodies to HIV elevated?

A

High throughout

68
Q

What are the four neoplasms associated with the HIV?

A
  • Kaposi’s sacroma
  • B cell lymphoma
  • Primary lymphoma of the brain
  • Carcinomas of the uterine cervix and anus
69
Q

What is the pathogenesis of B cell lymphoma in HIV?

A

increased stimulation of germinal B cell centers, causing hyperplasia

70
Q

What are the histological characteristics of pneumocystis pneumonia seen in AIDs pts?

A

Alveoli filled with foamy exudate white interstitium is thickened by a chronic inflammatory infiltrate

71
Q

SIlver stain of pneumocystis pneumonia produces what histological characteristics?

A

Coffee bean appearance

72
Q

What are the histological characeristics of oral candidiasis?

A

Pseudohyphae

73
Q

What are the histological characteristics of mycobacterium avium-intracellulare in the intestines? What is the stain to use?

A

Widening and thickening of intestinal villi

Acid fast

74
Q

What is the stain utilized to diagnose HIV cells?

A

anti-p24

75
Q

What are the histological characteristics of CMV? (2)

A

HUGE cells

Perinuclear halo

76
Q

What happens to the brain in HIV?

A

Progressive mutlifocal leukoencephalopathy caused by demylination

77
Q

What is the causative agent of Kaposki’s sarcoma?

A

HHV8

78
Q

Why does Kaposki’s sarcoma appear red/blue?

A

Highly vascularized

79
Q

What are the histological characteristics of Kaposki’s sarcoma?

A

Highly vascularized/endothelial cells

80
Q

What are the 4 different types of HIV medications?

A
  1. Fusion/entry inhibitors
  2. Reverse transcriptase inhibitors
  3. Integrase inhibitors
  4. Protease inhibitors
81
Q

What is amyloidosis?

A

Diverse group of disorders characterized by extracellular deposition and accumulation of abnormal, misfolded proteins

82
Q

True or false: amyloidosis is a disease

A

False

83
Q

What is the stain for amyloid? What is significant about this stain?

A

Congo red–causes fluorescence under polarized light

84
Q

What are the two components of amyloid?

A
  1. Fibrils

2. Pentagonal components (glycoprotein)

85
Q

What is the secondary structure that amyloid forms?

A

Beta-pleated sheets

86
Q

What is amyloid derived from?

A

Soluble circulating protein precursors into insoluble fibrillar forms

87
Q

Amyloid fibril types are designated by two letters. What are they?

A

A for amyloid, followed by letters for the chemical type

88
Q

What produces AL proteins?

A

B cells in B cell lymphoma

89
Q

What produces AA proteins?

A

Liver cells produce acute reactive proteins forming chronically

Occurs in chronic diseases

90
Q

What is the ATTR protein, and what is it’s function?

A

Anti Transthyretin protein

Transports thyroxin and retinol

91
Q

How is amyloidosis classified? (3)

A

By distribution
Presence of disease
Chemical type

92
Q

Abeta amyloid is associated with what/where?

A

Cerebral blood vessels in Alzheimers

93
Q

Where do deposits of amyloid go in the liver?

A

Space of disse

94
Q

Abeta2-microglobulin is seen in pts with what? Where does it depost?

A

Dialysis pts

Synovium/joints

95
Q

Abeta amyloid is associated with what/where?

A

Cerebral blood vessels in Alzheimers

96
Q

What are the complications of amyloidosisin the heart? Where, histologically, in the heart are these deposits found?

A

Rigid ventricles

Between myocytes

97
Q

How do you diagnose amyloidosis?

A

Biopsy of mucosa

98
Q

What are the clinical features of amyloidosis?

A

Depends on how much and where, but more = worse function

99
Q

Amyloid light chain type is derived from what? What diseases is this seen in?

A

from the lambda Ig chain from B cells

Multiple myeloma, or other B cell disorder

100
Q

Where is amyloid light chain deposited in the body?

A

Usually generalized, but tends to involve the heart, GI, peripheral nerves

101
Q

What diseases is the AA type of amyloid found in?

A

Inflammatory or infectious states e.g. RA

102
Q

What is the AA amyloid derived from?

A

SAA (acute phase reactive proteins)

103
Q

Where are AA amyloid deposits found in the body?

A

Systemic, but tend to involve kidneys, liver, spleen, lymphs, adrenals

104
Q

ATTR amyloid is caused by what? Where is it deposited?

A

An AD mutant tranthyretin, despositing in peripheral nerves

105
Q

What can cause a decrease in size of an organ in amyloid deposit?

A

Ischemic atrophy

106
Q

Which primary immunodeficiency is caused by a lack of a Y kinase, causing a failure of B cell to undergo furtehr differentiation?

A

X-linked agammaglobulinemia of Bruton

107
Q

What disease has no B mature cells in circulation, and thus no immunoglobin?

A

X-linked agammaglobinuemia of Bruton

108
Q

Which primary immunodeficiency is caused by an intrinsic inability of B cells to undergo differentiation, or a lack of T cell signalling to B cells?

A

Common variable immunodeficiency

109
Q

Which primary immunodeficiency is caused by a failure of T cells to induce B cells to isotype swtich d/t a lack of CD40 ligand?

A

Hyper IgM syndrome

110
Q

What is the inheritance pattern of hyper IgM syndrome?

A

X-linked or AR

Pathology (32 decks)

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