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Immuno Exam Tres > Diseases > Flashcards

Diseases Flashcards

1
Q

Describe Factor D deficiency? What pathway? what organism are pts susceptible to?

A
  1. Factor D needed to cleave factor B in the alternate pathway.
  2. Very Rare
  3. Decreased AP function
  4. Increased susceptibility to Neisseria
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2
Q

Describe Factor B deficiency? What pathway? what organism are pts susceptible to?

A
  1. Factor B needed for AP activation
  2. Very Rare
  3. Decreased AP function
  4. Increased susceptibility to Neisseria
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3
Q

Describe Properdin deficiency? What pathway? what organism are pts susceptible to?

A
  1. Needed in Alternate pathway to stabilize C3 convertase.
  2. X-linked
  3. Decreased AP function
  4. Increased susceptibility to Neisseria
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4
Q

Describe Factor H deficiency? What pathway? what organism are pts susceptible to?

A
  1. Leads to uncontrolled activation of AP and depletion of C3
  2. Causes C3 convertase decay, it’s a co-factor for Factor I
  3. Specific for ALTERNATE PATHWAY!
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5
Q

Describe Hereditary Angioedema (HAE)? what is cause? What are symptoms? What is the mechanism? Treatments?

A
  1. It is caused by a deficiency of the CP control protein C1-Inh (regulates (inhibits) proteases including C1r and C1s and those associated with MBL (MASP-1 and MASP-2) –> thus deficiency results in continuous plasma complement activation (because it is a C1 inhibitor)
  2. Recurrent swelling in extremities, face, lips, larynx or GI tract
  3. C1-INH inactivates plasma kallikrein which is an enzyme that cleaves plasma kininogen to produce bradykinin –> the bradykinin is the cause of the swelling seen in HEA
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6
Q

Describe Paroxysmal Nocturnal Hemoglobinuria (PNH)? What is the cause?

A
  1. It’s a somatic mutation that results in a deficiency of glycosylphosphatidylinositol
  2. Lack all protein linked through GPI anchor (lipid anchor the G is the long word above) this include DAF (CD55) and CD59 which are complement regulatory proteins which protect RBCs from complement activation by getting rid of convertases –> thus results in complement activation on RBCs –> leading to hemolysis
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7
Q

What is Severe Combined Immune Deficiency (SCID)? What type of infections susceptible to? What are the different types?

A
  1. Associated with profound deficiency of T-cell and B cell functions and sometimes NK function as well as severe lymphopenia
  2. Characterized severe opportunistic infections by pneumocystis jiroveci, chronic diarrhea and failure to thrive
  3. Types: ADA, Artemis, and RAG1/RAG2 deficiencies
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8
Q

Adenosine Deaminase (ADA) Deficiency as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid?

A
  1. T-/B-/NK-
  2. Low/absent IgG, IgA, and IgM
  3. Autosomal recessive
  4. Second most common cause of SCID
  5. The deficiency leads to accumulation of toxic for lymphocytes by-product deoxyadenosine
  6. All live vaccines
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9
Q

RAG1/RAG2 deficiency as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T-/B-/NK+
  2. Low/absent IgG, IgA, or IgM
  3. Autosomal recessive
  4. The deficiency results in impaired V(D)J recombination which leads to defective pre-TCR AND pre-BCR
  5. Presents in infancy with diarrhea, candidiasis (fungal infection) and opportunistic bacterium (pneumocystis jiroveci)
  6. Avoid live vaccine mah dude
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10
Q

Artemis deficiency as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when? What type of sensitivity?

A
  1. T-/B-/NK+
  2. Low/absent IgG, IgA, and IgM
  3. Autosomal recessive
  4. Artemis fixes DSB in VDJ recombination
  5. Pts at risk of developing lymphomas
  6. Avoid all live vaccines
  7. Radiosensitivity
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11
Q

Common y(gamma) chain Deficiency (yC or IL-2Ry) as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T-/B+/NK-
  2. IgM+; low/absent IgG, IgE, and IgA
  3. X-linked recessive
  4. The most common form of SCID (45% of all cases)
  5. The gamma-chain gene is shared by T cell growth factor receptor (IL-2Ry) and other GF receptors (IL-4, IL-7, IL-9, IL-15, IL-21)
  6. There are no functional B cells because T cells can’t help activated them
  7. Avoid all live vaccines
  8. The same presentation as other SCIDs
  9. Present with severe thrush, opportunistic infections and chronic diarrhea
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12
Q

IL-7R Alpha chain deficiency as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T-/B+/NK+
  2. IgM+; low/absent IgG, IgE and IgA
  3. Autosomal recessive
  4. IL-7 plays an important role in early T cell development
  5. As with the gamma chain deficiency, the levels of certain Ig are low because there is no T cell co-stimulatory signal for class switching and ish
  6. presentation same as other SCIDs
  7. Avoid all live vaccines as with all SCIDs and HSCT is curative as will all SCIDs
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13
Q

JAK3 deficiency as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T-/B+/NK- (the NK being - is what sets it apart from CD3 so I’m assuming JAK3 plays a part in NK signaling as well)
  2. IgM+; low/absent IgG, IgE, and IgA
  3. Autosomal recessive
  4. Causes defect in IL-2 receptor signaling
  5. avoid all live vaccines and HSCT curative
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14
Q

CD3 deficiency as relating to SCID. What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T-/B+/NK+
  2. Normal IgM; low/absent IgG, IgE, and IgA
  3. Autosomal recessive
  4. Could be a deficiency in any of the subunits (delta, gamma, epsilon, or zeta)
  5. Same other stuff as other SCIDs
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15
Q

What is agammaglobulinemia? and what does it result in?

A
  1. It’s a B cell immunodeficiency that is X-linked (some autosomal recessive forms exist)
  2. Results in early B cell development being arrested at the pre-B cell stage (doesn’t have a BCR yet only pre-BCR)
  3. T+/B-/NK+
  4. HSCT
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16
Q

What is X-linked Btk Kinase deficiency? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. B-/T+/NK+
  2. Low/absent IgM, IgG, IgE and IgA
  3. It’s a B cell immunodeficiency
  4. X-linked
  5. Caused by a defect in the rearrangement of the Ig heavy chain
  6. Avoid all live vaccines and HSCT is curative
17
Q

What is IgA deficiency? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. B+/T+/NK+
  2. Absent IgA; normal IgM, IgG, and IgE
  3. IgA secreting B cells have disorders of maturation or terminal differentiation
  4. no symptomatic treatment
  5. no restriction for vaccination
  6. Most affected individuals are Healthy (because IgM can translocate to mucosal epithelium)
  7. Present with recurrent infection typically with encapsulated bacteria
18
Q

What are Isolated IgG Subclass Deficiencies? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. B+/T+/NK+
  2. Some IgG subclasses are absent
  3. Recurrent viral/bacterial infections
  4. Low levels of IgG2 are frequently associated with poor responses to polysaccharide Ags in children
  5. no restriction for vaccination
  6. symptomatic treatment
19
Q

What are Hyper IgM Syndromes (HIGM)? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. B+/T+/NK+
  2. High IgM, low IgG, IgE and IgA
  3. Increased susceptibility to bacterial infection
  4. Occurs due to mutations of CD40L or CD40 genes
  5. Two types:
    a. X-linked CD40L deficiency (male only)
    responsible for 2/3 of cases
    b. Autosomal CD40 Deficiency (female
    and male) 1/3 of all cases
  6. Polio vaccine not recommended
  7. Symptomatic treatment
20
Q

What is Hypogammaglobulinemia of Infancy? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. B - or +/ T+/NK+
  2. Normal IgM; low IgG, IgE and IgA
  3. Normally the IgG from mother lasts for about 6 months and the babies intrinsic IgG production starts right after birth.
  4. In hypogammaglobulinemia, the intrinsic production of Ig is delayed by up to 36 months –> thus IgG and IgA concentrations are low but IgM could be normal or low
  5. Increase susceptibility to sinopulmonary infections
  6. In most pts Ig concentrations normalize between 2-4 years of age
  7. Polio is not recommended
  8. Symptomatic treatment
21
Q

What is Bare Lymphocyte Syndrome Type 2 (BLS II) ? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T+, B+, NK-
  2. Normal IgM, IgG, IgE, and IgA
  3. It’s a T cell immunodeficiency
  4. Rare autosomal recessive genetic disorder causing a HLA class-II negative SCID
  5. There is no MHC II expression on APCs –> results in a deficiency of CD4+ T cells
  6. Genes for MHC II on Chromosome 6 are intact
  7. The mutations are in the genes that encode TFs that regulate the expression of MHCII genes (it has variable hypogammaglobulinemia mainly IgA and IgG2)
  8. Leads to recurrent respiratory, GI, and urinary tract infections and frequently to death in early childhood
  9. Avoid all live vaccines
  10. HSCT is curative
22
Q

What is an MHC class I deficiency? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when?

A
  1. T+, B+, NK-
  2. Normal IgM, IgG, IgE, IgA
  3. Caused by mutations in TAP1 molecules that transfer peptides to the ER
  4. CD8+ are deficient –> results in recurring viral infections and CD4+ are normal (It’s a type of T Cell deficiency)
  5. Normal Ab production
  6. Normal DTH (delayed-type hypersensitivity)
  7. Avoid viral live vaccines
  8. Symptomatic treatment
23
Q

What is DiGeorge Syndrome (DGS)? What does it result in? what is the phenotype? Genetic component? Mechanism? What kinda vaccines should individuals avoid? Presents with and when? What is the triad?

A
  1. T-/B+/NK+
  2. Normal IgM, IgG, IgE, and IgA
  3. Complete DGS classic example of a T-cell deficiency
  4. Most cases result from a microdeletion of 22q11.2 region containing more than 35 genes
  5. The triad is: cardiac anomalies, hypocalcemia, and hypoplastic (underdeveloped) thymus which leads to T-cell immune dysfunction
  6. Low T cell numbers in 80% of patients with 22q11.2 deletion syndrome
  7. Humoral immunity is intact in most patients
  8. Suffer commonly from frequent upper respiratory tract infections
  9. Avoid all live vaccines
  10. Symptomatic Treatment

Immuno Exam Tres (2 decks)

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