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CMOD/PCM- Block 2 > Immuno: Acquired Immune Deficiencies > Flashcards

Immuno: Acquired Immune Deficiencies Flashcards

1
Q

What is XLA (X-linked agammaglobulinemia)?

A

defect in Bruton’s tyrosine kinase that prevents signal transduction in B cells; results in sparse B cell development and no humoral immune system

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2
Q

In a disease script or on wards, if you see/hear “underdeveloped tonsils” what disorder should you think?

A

X-linked agammaglobulinemia - deficiency of Bruton’s tyrosine kinase and no B cells

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3
Q

A deficiency in B cell development would render a patient most susceptible to what type of pathogen?

A

extracellular bacterial pathogens (due to lack of humoral immune response) as well as many viruses (due to the inability to neutralize virions)

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4
Q

What is Pre-B cell receptor deficiency?

A

an inability to form the pre-B cell receptor due to a non-functional surrogate light chain; since the surrogate chain can’t be formed, the pre-B cell and B cell receptors can’t be formed, therefore apoptosis occurs leading to profound B cell deficiency

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5
Q

What is the genetic basis of Pre-B cell receptor deficiency?

A

mutation of the lambda-5 gene, which is a component of the surrogate light chain that pairs with the mu heavy chain during somatic recombination of light chain genes
(recall: lambda and kappa light chain genes)

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6
Q

What is X-linked hyper IgM syndrome?

A

Only Ab isotype produced is IgM because the B cells are deficient at class switching

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7
Q

What are the two causes of X-linked hyper IgM syndrome?

A
  1. defect in CD40 ligand expression on T cell (needed for second signal of activation of B cells)
  2. AID deficiency (needed for class switching)
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8
Q

If a person cannot activate macrophages, will there be germinal centers in their secondary lymphoid tissues?

A

Yes - if a person cannot activate B cells however there will be no germinal centers in the secondary lymphoid tissue

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9
Q

Selective IgA deficiency gives a patient the highest risk of what 2 things?

A
  1. hypersensitivity to blood transfusion - because they will make an anti-IgA antibody
  2. parasite pathogens
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10
Q

What is selective IgG deficiency?

A

deficiency of each or all of the IgG subtypes; IgG1 is very rare, while IgG2 is most common in kids and IgG3 most common in adults. IgG4 deficiency is of unknown significance.

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11
Q

What are the consequences of IgG1 and IgG2 deficiencies?

A

IgG1 - susceptibility to many bacterial and viral pathogens

IgG2 - susceptibility to encapsulated bacteria

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12
Q

What is CVID?

A

common variable immunodeficiency; group of about 150 disorders that feature reduced levels of antibodies, but different etiologies

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13
Q

What is the clinical presentation of CVID?

A

recurring infections mainly with bacterial and/or viral pathogens involving the ear, eyes, sinuses, nose, bronchi, lungs, skin, GI tract, joint, bones, CNS, parotid glands, etc.

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14
Q

CVID can be characterized by the presence of ____, but not as dramatic as that observed in XLA.

A

hypoglobulinemia

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15
Q

What is the genetic basis of Ataxia telangiectasia?

A

inherited defect in the ATM gene which encodes a DNA repair enzyme

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16
Q

What is the clinical presentation of Ataxia telangiectasia?

A 
Clinical Triad:
1. cerebellar defects (ataxia)
2. spider angiomas (telangiectasia)
3. IgA or IgE deficiency
Additionally: can also have elevated alpha-fetoprotein (AFP) levels in serum
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17
Q

What is the immune presentation of Ataxia telangiectasia?

A

B and T cell deficiencies, as well as very low levels of either IgA or IgE, but most typically IgA

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18
Q

What is the result of an IL-12 or IL-12 receptor deficiency?

A

inability to generate TH1 type responses; these patients make much less IFN-gamma

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19
Q

What is the clinical presentation of an IL-12 or IL-12 receptor deficiency?

A

most common susceptibility is to disseminated mycobacterial infections

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20
Q

What deficiency is caused by a genetic deficiency of STAT-3 function?

A

Job’s syndrome, or hyper IgE syndrome;

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21
Q

What is the resulting deficiency in Job’s syndrome?

A

result of deficient STAT-3 is the reduced production of IFN-gamma by TH1 cells (and strong bias toward differentiating TH2 cells), as well as neutrophils that fail to respond to chemotactic signals (undefined reason)

22
Q

What are the clinical findings in Job’s syndrome?

A 
High IgE in blood.
Clinical Triad:
1. eczema
2. recurrent abscesses with S. aureus
3. coarse facial features
Mnemonic: FATED - coarse/leonine Faces; cold staph Abscesses; retained primary Teeth; increased IgE; Dermatologic problems (eczema)
23
Q

Chronic mucocutaneous candidiasis is a group of disorders characterized by what? What is the immune basis?

A

recurrent or persistent superficial infections of the skin, mucous membranes, and nails with Candida organisms, usually Candida albicans; immune basis is T cell dysfunction and undefined cytokine deficiency

24
Q

TAP 1 or 2 deficiency affects what type of T cells?

A

CD8+ T cells; functional TAP-1/-2 is needed for successful positive selection of CD8+ T cells in the thymus

25
Q

TAP deficiency results in what?

A

very low levels of MHC class I molecules and defective responses to IC pathogens (due to CD8+ T cell deficiency)

26
Q

What is CD8 alpha chain defect?

A

lack of CD8 expression, which gives the same phenotype as TAP transporter deficiency

27
Q

What is the result of a nonsense mutation in perforin?

A

dramatically or totally reduced CTL activity; normal numbers of CD8 T cells but they are unable to induce PCD of target cells; this means high susceptibility to viral and IC bacterial infections

28
Q

____ T cell defects can result in SCID.

A

CD4+

29
Q

Lack of MHC molecules (class I or class II, makes for different types) is also known as ___ ___ ___.

A

Bare lymphocyte syndrome

30
Q

Wiskott-Aldrich syndrome is a defect in what?

A

cytoskeletal reorganization that is needed for T cells to deliver cytokines and other signals to B cells and macrophages (cell cross-talk deficiency)

31
Q

Deficiency of what results in accumulation of TOXIC nucleotide catabolites that MURDERS developing B and T cells?

A

deficiency of adenosine deaminase (ADA) or purine nucleotide phosphorylase

32
Q

Common gamma chain deficiency is a deficiency of _____________. This is important because _____________.

A

its namesake, which is a component of many cytokine receptors.
Important because these receptors act through Jak3 pathway to induce T cell proliferation, and without the chain in the receptor there will be no effector T cells. AT ALL.

33
Q

What is the phenotype of Janus Kinase 3 (Jak3) deficiency?

A

basically the same as common gamma chain deficiency: no T cell signaling or proliferation, no effector T cells

34
Q

What is CD3 deficiency good for?

A

Absolutely nothing. In fact, it results in the lack of CD4+ or CD8+ T cells. Hmm. That’s funny. Sounds like A TOTAL LACK OF T CELL FUNCTION. Hence, SCID.

35
Q

Thymic aplasia means no development of what?

A

T cells. If you got this wrong you should just go home now. We can’t help you.

36
Q

What is a congenital condition that would result in a person not having a thymus?

A

complete DiGeorge syndrome (22q.11 deletion)

37
Q

What infections are typical of SCID?

A

fungal, bacterial, and viral infections.

38
Q

ZAP-70 deficiency prevents expression of functional ZAP-70. What is ZAP-70 and what does this disease look like?

A

ZAP-70 is a tyrosine kinase that associated with phosphorylated ITAMs during signaling via TCR complex; the disorder phenotype is absence of CD8+ T cells, normal number of NON-functional CD4+ T cells, results in SCID

39
Q

What is the treatment for ZAP-70 deficiency?

A

bone marrow transplant

40
Q

Omenn syndrome is caused by partial active ____ genes. What kind of B and T cells numbers/activity is there?

A

RAG genes - due to a mis-sense mutation; there is an absence of B cells and low numbers of oligoclonal auto-reactive T cells (yes, this syndrome results in an autoimmune disorder too)

41
Q

What are the phenotype and symptoms of Omenn syndrome?

A

phenotype is SCID (pt develops bacterial/fungal/viral infections) and looks essentially the same as common gamma chain deficiency; symptoms include erythoderma, desquammation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, hepatosplenomegaly

42
Q

What is the treatment for Omenn syndrome?

A

bone marrow transplant

43
Q

APECED stands for what, and is caused by what?

A
  • “Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy”
  • results from genetic deficiency of gene that encodes AIRE (a TF)
44
Q

What are the characteristics of APECED?

A

polyglandular problems, including:
hypoparathyroidism, hypogonadism, adrenal insufficiency, type-1 diabetes, latent hypothyroidism, alopecia totalis, keratoconjunctivitis, tooth enamel hypoplasia, candidiasis, juvenile-onset pernicious anemia, GI problems

45
Q

IPEX results from genetic deficiency of _____ expression in _____.

A

FoxP3 expression in CD4 Treg cells

46
Q

What does IPEX stand for?

A

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX)

47
Q

What does IPEX result in, and what is the clinical presentation?

A

Results in autoimmunity to variety of host tissues in first year of life due to lack of Treg function; common clinical triad of:

  1. watery diarrhea
  2. eczematous dermatitis
  3. endocrinopathy (type I diabetes)
    * Additionally: most kids display Coombs-positive anemia, AI thrombocytopenia, AI neutropenia, and tubular nephropathy
48
Q

What is the treatment for IPEX?

A

aggressive immunosuppression and/or bone marrow transplant

49
Q

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disease characterized by ____ and ____. This results from what?

A

lymphadenopathy and splenomegaly; results from immune cells that fail to undergo apoptosis following immune response, which is itself a result of deficient expression of either Fas, FasL, or casp-10

50
Q

What are the 3 cell surface molecules of which a deficiency could cause ALPS?

A

Fas
Fas ligand
caspase 10

51
Q

What is the clinical presentation of ALPS?

A

AI hemolytic anemia, neutropenia, thrombocytopenia, splenomegaly, lymphadenopathy, often also have a large number of CD4- and CD8- T cells

52
Q

What is the treatment for ALPS?

A

immunosuppression and IVIg (intravenous immunoglobulin administration)

CMOD/PCM- Block 2 (41 decks)

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