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General Pathology > Exam #3: Immunodeficiency II > Flashcards

Exam #3: Immunodeficiency II Flashcards

1
Q

What is Hyper IgM Syndrome?

A

This is a condition characterized by normal to elevated levels of IgM, BUT an absence of IgG, IgA & IgE isotypes

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2
Q

What causes Hyper IgM Sydrome?

A
  • Failure of helper T cells to induce B-cell isotype switching from IgM to IgG, IgA, & IgE
  • Failure to activate macrophages to remove intracellular microbes
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3
Q

What is the genetic basis of Hyper IgM Syndrome?

A
  • X-Linked mutation for CD40L (on T-cells)
  • Autosomal recessive mutation for CD40 or “activation induced demainase,” an enzyme required for isotype class switching
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4
Q

What are the defects/ manifestations caused by Hyper IgM Syndrome?

A
  • Lack of opsonization leads to recurrent infection
  • IgM reactions against blood cells can cause hemolytic anemia
  • Susceptibility to pneumocystis jiroveci
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5
Q

What is DiGeorge Sydrome?

A

Partial or complete disruption of the 3rd & 4th pharyngeal pouch development leading to aplasia or hypoplasia of the thymus/ parathyroid

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6
Q

What are the features of DiGeorge Syndrome?

A
  • T-cell defect
  • Hypocalcemia
  • Cardiac abnormalities
  • Cleft Palate
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7
Q

What is the genetic basis of Di George Syndrome?

A

22q11 deletion

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8
Q

What are the clinical manifestations of Di George Sydrome?

A
  • Difficulty clearing VIRAL & FUNGAL infections
  • Facial defects
  • Cardiac defects
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9
Q

What are the facial defects seen in Di George Syndrome?

A
  • Low set ears
  • Midline clefts
  • Small mandible
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10
Q

What are the cardiac defects seen in Di George Syndrome?

A
  • VSD

- Right subclavian artery derived from pulmonary artery

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11
Q

What is the difference between Di George Syndrome with hypoplasia vs. aplasia of the thymus?

A 
Hypoplasia= immune defect resolves by age 5 
Aplaisa= requires transplantation of fetal thymus
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12
Q

What is SCID?

A

Severe Combined Immunodeficiency, a constellation of different syndromes that all share common defects in humoral and cell-mediated immunity

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13
Q

What are the two genetic mutations that result in SCID?

A
  • X-Linked

- Autosomal Recessive

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14
Q

What is the mutation in the x-linked form of SCID? What are the consequences?

A

Mutation of common gamma chain subunit of cytokine receptors that impair the ability for lymphocytes to develop & function

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15
Q

What is the autosomal form of SCID?

A

This is the form of SCID that is caused by adenosine deaminase deficiency; this enzyme breaksdown metabolites that are toxic to lymphocytes

  • Deoxyadenosine
  • Deoxy-ATP
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16
Q

What are the clinical features of SCID?

A
  • Early onset thrush, diaper rash, failure to thrive

- Recurrent infections of all types

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17
Q

What is the treatment for SCID?

A
  • Bone marrow transplant

- Gene therapy for ADA

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18
Q

What is Wiskott-Aldrich Syndrome? What are the characteristics of Wiskott-Aldrich Syndrome?

A

This is an X-linked disorder in male infants characterized by:

1) Thrombocytopenia
2) Eczema
3) Immunodeficiency

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19
Q

What is the genetic basis for Wiskott-Aldrich Syndrome?

A
  • X-linked disorder in male infants
  • Defect disrupts the ability to maintain cytoskeletal linkage of membrane receptors–> progressive depletion of T & B cells
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20
Q

What are the lab markers for WAS?

A
  • Low IgM
  • Normal IgG
  • Elevated IgA & IgE
  • No response to polysaccharide antigens
  • Poor response to protein antigens
  • Depletion of T-cells in the blood & nodal tissue
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21
Q

What are the clinical manifestations of WAS?

A
  • Hemorrhagic diathesis
  • Recurrent respiratory infections
  • Pyogenic bacteria, viruses, fungi
  • Early death w/out bone marrow transplant
  • Increased lymphoid malignancies in survivors past 10
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22
Q

What is the link between immunodeficiency & autoimmunity?

A

1) Defects in T-cells also include defects in T-regulatory cells
2) Persistent activation increases the likelihood of aberrant T-cell activation, altered immune response, & generation of auto-reactive cells

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23
Q

What are secondary immunodeficiencies?

A

Immune impairments in previously healthy people caused by a variety of diseases & physiologic states

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24
Q

What are the states that impair immunity?

A

1) Extremes of age
2) Metabolic state
3) Drugs
4) Infiltrative & hematologic disorders
5) Trauma/ infection

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25
Q

What is vertical transmission of HIV?

A

Transplacental
Intrapartrum
Piernatal

*****I.e. from mother to infant

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26
Q

Describe the binding of the HIV virion.

A

1) HIV gp120 binds CD4+ molecule on target cell
2) Needs chemokine co-receptors:
- CCR5, macrophages
- CXCR4, T-cells
3) HIV gp41 inserts into the target cell membrane & fuses the viral envelope with the cell membrane for fusion

27
Q

Outline the entry & transmission of HIV.

A

Once internalized:

1) Reverse transcriptase transcribes viral RNA genome to a DNA copy (cDNA)
2) Integrase (viral) causes “integration” of cDNA into host DNA in dividing cells
3) cDNA integrated into host DNA gets transcribed & produces new viral particle

28
Q

What happens to CD4 cells when they’re infected by HIV i.e. why are T-cells killed?

A

1) Viral replication kills the CD4 cell
2) Activation of uninfected to undergo apoptosis
3) Expression of HIV particle on the surface causes CD8+ cells to kill them

29
Q

What are the immune effects of HIV infection?

A

1) Lymphopenia i.e. selective T-cell lymphopenia with diminished T-cell function
2) Polyclonal B-cell activation & hypergammaglobulinemia
3) Altered macrophage function with decreased MHC II expression & Ag presentation

30
Q

What are the five effects of T-cell lymphopenia on the immune system?

A

1) CD4= decreased response to soluble antigens
2) CD8= decreased specific cytotoxicity
3) NK= decreased killing of tumor cells
4) B-cell= Decreased Ig production in response to new antigens
5) Macrophage= diminished cytotoxic ability, less IL-1, & poor APC

31
Q

What are the phases of HIV infection?

A

1) Early, acute phase
2) Middle, chronic phase
3) Final, crisis phase

32
Q

What are the characteristics of the early acute phase of HIV?

A
  • Viral replication
  • Viremia
  • Viral seeding of lymphoid tissue

*****All lead to: Fever, sore throat, myalgias i.e. flu-sx

33
Q

What are the characteristics of the middle, chronic phase of HIV?

A

Continued viral replication in lymphoid tissue

*****Lymphadenopathy, weight loss, night sweats, fatigue, fever

34
Q

What are the characteristics of the final, crisis phase of HIV?

A
  • Marked viral replication
  • Depletion of T-cells leading to profound immune suppression

*****Fever, fatigue, weight loss, opportunistic disease, & neoplasm

35
Q

Outline the timeline of immune response to HIV.

A
  • CTL response 2-3 weeks post infection
  • Humoral response starts roughly 6 weeks post infection

BOTH responses reach their peak ~12 weeks after infecition

36
Q

What are the AIDS defining neoplasms?

A

1) Kaposi sarcoma
2) B-cell lymphomas
3) Primary lymphoma of the brain
4) Invasive carcinoma of uterine cervix & anus

37
Q

What is are the mechanisms of B-cell lymphomas in HIV?

A

There are two mechanisms:

1) HIV infection increases follicular T-cells initially, signaling germinal B-cells (immature) to proliferate & become hyperplastic–leads to lymphoma
2) T-cell depletion leads to the acquisition of other viral infections that drive lymphoma

38
Q

How does pnemocystitis jirveci pneumonia appear on microscopy?

A
  • Alveoli filled with foamy exudate

- Interstititium thickened by a chronic inflammatory infiltrate

39
Q

How does pnemocystitis jirveci pneumonia appear on silver staining?

A

“Coffee bean”

40
Q

What does mycobacterium avium-intracellulare infect in AIDS patients?

A

Small intestinal villus that leads to problems with malabsorption

**Will also be present in the spleen

41
Q

Where do Toxoplasma abscesses occur in AIDS patients?

A

Putamen & thalamus

42
Q

What are the characteristics of HIV encephalitis?

A

Mutlinuclear giant cells

43
Q

What is pulmonary cytomegaloviurs? How does this appear under microscopy?

A

Lung infection that leads to thickened interstitum

- Microscopy there is a hallmark “HUGE” nucleus

44
Q

What is Progressive Multifocal Leukoencephalopathy (PML)?

A

Oligodendrocytes “drop-out” causing demyelination–drives AIDS dementia

45
Q

What do the lesions associated with Kaposi Sarcoma look like?

A

Painful purple or brown cutaneous nodules

46
Q

What are the different classes of drugs that are used to treat AIDS?

A

1) Reverse transcriptase inhibitors
2) Fusion & entry inhibitors
3) Integrase inhibitors
4) Protease inhibitor s

47
Q

What are the characteristics of HIV encephalitis?

A

Mutlinuclear giant cells

48
Q

What is Kaposi’s Sarcoma?

A

Endothelial/ vascular tumor seen on the skin

49
Q

What causes Kaposi Sarcoma?

A

HHV-8

50
Q

What is Amyloidosis?

A

This term refers to a broad group of disorders characterized by the extracellular accumulation of amyloid, a mis-folded protein that cannot be degraded

51
Q

What is amyloid?

A

Amyloid= a pathologic proteinaceous substance deposited int the extracellular space

  • Forms continuous non-branching fibrils
  • cross-B-pleated sheet conformation
52
Q

What does amyloid stain with?

A

H & E:

  • amorphous
  • eosinophilic
  • hyaline

Congo red= pink/ red color in tissue deposits

Congo red + birefringence=
- yellow green fluorescence

53
Q

What are the three most common pathologic forms of amyloid protein?

A

1) AL, amyloid light chain
2) AA, amyloid associated
3) AB amyloid

54
Q

What is AL derived from?

A

Ig light chains produced by plasma cells

55
Q

What is AA derived from?

A

Acute phase protein synthesized by the liver, SAA

56
Q

What is AB derived from?

A

B-amyloid precursor protein found in cerebral lesions of Alzheimer’s Disease

57
Q

What is Amyloidosis?

A

This term refers to a broad group of disorders characterized by mis-folded protein that cannot be degraded & accumulates

58
Q

How is amyloidosis classified?

A
  • Distribution
  • Presence of absence of pre-exisiting disease
  • Chemical type
59
Q

What is AL associated with?

A

Multiple myeloma or some other disorder of B-cells

60
Q

What is secondary amyloidosis?

A

Amyloidosis that occurs secondary to a chronic inflammatory state

61
Q

What disease states is AA associated with?

A
  • RA
  • IBD
  • Subcutaneous drug abuse
  • Renal cell CA
  • Hodgkin’s Lymphoma
62
Q

What is ATTR? What ATTR associated with?

A

Autosomal dominant deposition of a mutant transthyretin that is associated with PERIPHERAL NEUROPATHY

63
Q

What is AB 2-microglobulin?

A

Amyloid protein deposited in synovium, joints, & tendon sheaths in long-term dialysis

General Pathology (33 decks)

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