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Anatomic And Molecular Pathology > Immunopathology III (Immune Deficiency) > Flashcards

Immunopathology III (Immune Deficiency) Flashcards

1
Q

What are primary immunodeficiency disorders❓

Most primary immunodeficiencies will begin to manifest at what age❓

A
  • A deficient immune response to antigen stimuli that results from a genetic defect
  • Between 6 months ➡️ 2 years
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2
Q

List the primary immunodeficiency dx that you know❓

A

X-linked agammaglobulinemia/Bruton’s agammaglobulinemia

Common variable immunodeficiency

Isolated IgA deficiency

Hyper-IgM Syndrome

DiGeorge Syndrome/Thymic hypoplasia

SCID Severe Combined immunodeficiency

Wiskott-Aldrich Syndrome/Immunodeficiency w thrombocytopenia and eczema

Genetic deficiencies of the complement system

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3
Q
  1. Describe the pathogenesis of X-linked/Bruton’s Agammaglobulinemia
  2. What marked characteristics result from this❓
  3. How is it acquired❓
  4. When does it become apparent❓
A
  1. Mutation on long arm of X-chromosome (Xq21.22)
    ⬇️
    Mutation in Bruton/cytoplasmic tyrosine kinase
    ⬇️
    🚫Pro/Pre B-cells➡️Mature B cells
2. 
Pre-B cell count is normal
T-cell mediated Functions are normal 
🚫/⬇️B-cells in circulation 
🚫Plasma cells 
⬇️Serum immunoglobulins 
Germinal centers of lymph nodes are underdeveloped

3.
X-linked, more common in males

6 months, as maternal immunoglobulins are depleted

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4
Q
  1. What would a patient with X-linked/Bruton’s Agammaglobulinemia present with❓
  2. What are the causative organisms that predispose them these infections❓
A

1.
Recurrent bacterial infections of the respiratory tract

Pharyngitis

Sinusitis

Otitis media

Bronchitis

Pneumonia

2. 
Haemophilus influenzae
Streptococcus pneumonia 
Staphylococcus aureus 
Enteroviruses (echo/polio/coxsackievirus)
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5
Q
  1. What is the paradoxical situation encountered in about 35% of individuals with Bruton’s Agammaglobulinemia❓
  2. How would you treat a case of X-linked/Bruton’s Agammaglobulinemia❓
A
  1. Autoimmune diseases:
    Arthritis
    Dermatomyostis
  2. Replacement therapy with immunoglobulins

Prophylactic IV therapy to reach adulthood

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6
Q
  1. Describe the pathogenesis of Common Variable Immunodeficiency
  2. What marked characteristics result from this❓
  3. How is it acquired❓
A
  1. Poorly defined
    Relatives have ⬆️incidence of selective IgA deficiency
2. 
Hypogammaglobulinemia (all Ab/IgG)
Normal B-cell count 
B-cells don’t differentiate into plasma cells 
Antibody deficiency
  1. 🚫Sex-linked
    No single pattern of inheritance
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7
Q
  1. What would a patient with Common Variable Immunodeficiency present with❓
  2. What would you observe microscopically❓
  3. When does it become apparent❓
  4. What are the possible complications❓
A 
1.
Sinopulmonary pyogenic infections 
Recurrent Herpes virus (20% pts)
Meningoencephalitis
Persistent diarrhea (G. lamblia)

Clinical manifestations are similar with Bruton’s Agammaglobulinemia

  1. Hyperplasia of B-cell areas of lymphoid tissues

3.
Late childhood
Adolescence

  1. Autoimmune dx/rheumatoid arthritis (20% pt)
    ⬆️risk of malignancy
    ⬆️gastric cancer
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8
Q

What’s the major differences between Bruton’s Agammaglobulinemia and Common Variable Immunodeficiency❓

A

Bruton’s A:
🚫/⬇️B-cells in circulation
Affects more males
Onset by 6months

Common Variable I:
Normal B-cell count
Affects both sexed equally
Onset by late childhood/adolescence

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9
Q
  1. Describe the pathogenesis of Isolated IgA deficiency
  2. What marked characteristics result from this❓
  3. How is it acquired❓
  4. When does it become apparent❓
A
  1. Differentiation of naive B lymphocytes
    ⬇️🚫
    IgA-producing cells

2.
⬇️serum and secretory IgA
Weakened mucosal defenses
Respiratory, GI and UT infections

3.
Familial
Toxoplasmosis/Measles/Viral induced

  1. It is asymptomatic
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10
Q
  1. What would a patient with Isolated IgA deficiency present with❓
  2. What are the possible complications❓
A

1.
Recurrent sinopulmonary infections
Diarrhea

  1. Respiratory tract allergies
    Autoimmune dx: SLE, rheumatoid arthritis
    Fatal, anaphylactic rxns on transfusion of blood w normal IgA
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11
Q
  1. Describe the pathogenesis of Hyper-IgM Syndrome
  2. What marked characteristics result from this❓
  3. How is it acquired❓
A 
1. 
Mutation in Xq26 (X-linked)
⬇️
Mutation in gene coding for CD40L 
Mutation in gene coding for Activation-Induced Deaminase (Autosomal R)
⬇️
Production of IgM antibodies

🚫IgG, IgA and IgE antibodies

2. 
•Normal B and T cells 
•Normal IgM
•IgM antibodies react w elements of blood
⬇️
Autoimmune hemolytic anemia, thrombocytopenia, neutropenia 
•🚫IgA, IgE 
•⬇️IgG
  1. X-linked (70% pt)
    Autosomal recessive
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12
Q
  1. Describe the pathogenesis of Di-George Syndrome/Thymic Hypoplasia
  2. What marked characteristics result from this❓
  3. How is it acquired❓
A

1.
Deletion of gene that maps to chromosome 22q11

⬇️

🚫Development of 3rd and 4th pharyngeal pouches

⬇️

🚫Thymus
🚫Parathyroids
🚫Ultimobranchial body

2.
Depletion of T-cell zones of lymphoid organs 
T-cell deficiency
⬇️T lymphocytes 
🚫T cell-mediated immunity

Tetany
Defects of heart and great vessels
Abnormal appearance

  1. Mutation/Deletion of gene to chromosome 22q11
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13
Q
  1. Describe the pathogenesis of Severe Combined Immunodeficiency
  2. What marked characteristics result from this❓
  3. How is it acquired❓
  4. How can it be treated❓
A
  1. Mutation in gamma-chain subunit of cytokine receptors (X-linked)

OR

Adenosine Deaminase Deficiency (Autosomal recessive)
⬇️
🚫Cell-mediated immunity
🚫Humoral immunity

2.
Small thymus 
Thymus is devoid of lymphoid cells 
Hypoplastic lymphoid tissues 
⬇️T-cell and B- cell areas 
Remnants of Hassall’s corpuscles (ADA) 
Undifferentiated epithelial cells (X-linked)

3.
X-linked (50-60% pt)
Autosomal recessive

  1. Bone marrow transplant
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14
Q
  1. What would a patient with Severe Combined Immunodeficiency present with❓
  2. What are the causative organisms that predispose them these infections❓
A 
1. 
Infants present with:
Morbiliform rash shortly after birth
Oral candidiasis (thrush)
Extensive diaper rash 
Failure to thrive 
2.
Candida albicans 
P. jiroveci
Pseudomonas 
Cytomegalovirus 
Varicella
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15
Q

X-linked SCID is the first human dx in which gene therapy has been successful

True or false

A

True

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16
Q
  1. Describe the pathogenesis of Wiskott-Aldrich Syndrome
  2. What marked characteristics result from this❓
  3. How is it acquired❓
  4. What are the possible complications❓
A
  1. Mutations in gene coding Wiskott-Aldrich syndrome protein (Xp11.23)
2. 
Depletion of T lymphocytes 
🚫Cellular immunity 
🚫production of antibodies 
Normal IgG
⬇️Serum IgM
⬆️IgA, IgE

Thrombocytopenia
Eczema
Recurrent infections

  1. X-linked recessive
  2. Non-Hodgkin B-cell lymphomas
17
Q

The Genetic Deficiencies of the Complement System

  1. Which is the most common of all❓
  2. What marked characteristics result from this❓
A

C2

  • No increased susceptibility to infections
  • SLE-likes autoimmune dx
  • Alternative complement pathway controls most infections
18
Q

The Genetic Deficiencies of the Complement System

  1. Deficiency of components of the alternative pathway is rare, T/F❓
  2. What are these components❓
  3. What marked characteristics result from this❓
A
  1. True

2.
Properdin
Factor D

  1. Recurrent pyogenic infections
19
Q

The Genetic Deficiencies of the Complement System

  1. C3 complement is required for which pathways❓
  2. A deficiency of this protein will lead to❓
A
  1. Classic
    Alternative pathways

2.
Susceptibility to pyogenic infections
Immune complex-mediated glomerulonephritis

20
Q

The Genetic Deficiencies of the Complement System

  1. C1 inhibitor is required for❓
  2. A deficiency of C1 inhibitor will lead to❓
  3. What marked characteristics results from this❓
  4. How is this deficiency acquired❓
  5. How can it be treated❓
A 
1. 
Inhibits:
•C1r and C1s of complement cascade
•Factor XII of coagulation pathway
•Kallikrein system
  1. Hereditary angioedema
  2. Edema affecting skin and mucosal surfaces
    Asphyxia/Nausea/Vomiting/Diarrhea after stress
  3. Autosomal dominant

C1 inhibitor concentrates from human plasma

21
Q

A deficiency of C1 inhibitor is more common than complement deficiency states

True or false

A

True

22
Q

A deficiency in complement-regulatory proteins (except C1 inhibitor) is the cause of what condition❓

What happens in this dx❓

A

1.
Paroxysmal Nocturnal Hemoglobinuria

  1. Mutation in enzymes required for glycophosphatidyl inositol linkages

🚫Assembly of decay-accelerating factor and CD59

🚫Regulation of complement

Uncontrolled complement activation on RBC surface

Hemolysis

23
Q

Mutations in the complement regulatory protein factor H underlie about 10% of cases of Hemolytic Uremic Syndrome

True or false❓
What is it’s marked characteristic❓

A

True

Microvascular thrombosis in the kidneys

Anatomic And Molecular Pathology (14 decks)

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