Term
| What is FACS and for what diseases can it be diagnostic? |
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Definition
Fluorescence-Activated Cell Sorting
- Uses flow cytometry identify cell with cell markers
- provides relative and absolute counts of cell types in blood
Dx: infections, neutropenia, leukopenia, or other immunodeficiencies |
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Term
| How can you measure B-cell funcion in vivo and in vitro? |
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Definition
In vivo:
- serum Ig levels
- specific antibody titers
In vitro:
- mitogen-induced Ab production |
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Term
| How can you measure T-cell funcion in vivo and in vitro? |
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Definition
In vivo:
- DTH response to skin test
In vitro:
- T-cell proliferation in response to mitogen (i.e. phytohemagglutinin, PHA) |
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Term
| How can you test for phagocytic funciton? |
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Definition
- NBT test (diagnostic for chronic granulomatous dz CGD)
- Intracellular killing of bacteria
- Chemotaxis |
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Term
| What is the hallmark of Severe Combined Immunodeficiency Diseases (SCID)? |
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Definition
| Impairment of development/function of both T and B cells. |
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Term
| What are some therapies for immunodeficiency diseases? Which is the most effective treatment? |
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Definition
1) Gamma-globulins
2) Bone marrow transplantation
3) Supportive antibiotics
4) Cytokines
5) Gene Therapy
Most effective: supportive antibiotics |
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Term
| What are some symptoms of an infancy with SCID? |
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Definition
- Failure to thrive
- Oral/cutaneous candidiasis
- chronic diarrhea
- opportunistic infections |
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Term
| What are three types of SCID? |
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Definition
1) X-linked recessive
2) Adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) deficiency
3) RAG mutation |
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Term
In X-linked recessive SCID, what deficiency of what cytokine is responsible for the majority of cases?
Why is this cytokine deficient? |
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Definition
IL-2
X-linked SCID has mutations encoding the common gamma-chain shared between IL-2, -4, -7, -9, and -15 |
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Term
| In X-linked SCID, what are the levels of T cells? B cells? Humoral immunity? |
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Definition
T cell - low to none
B cell - normal
Humoral immunity - deficient
- severe hypogammaglobulinemia because B cell are not stimulated by T cells to form antibodies. |
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Term
| For SCID caused by ADA and PNP deficiency, what are the levels of lymphoctes? Humoral immunity? |
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Definition
T cell - low
B cell - low
NK cells - low
Humoral immunity - severe hypogammaglobulinemia |
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Term
| How does RAG mutations cause SCID? What happens to the levels of lymphocytes? |
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Definition
RAG mutations = no TCR or Ig gene rearrangement --> no diversity on T and B cells
T cell: low
B cell: Low
NK cell: normal |
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Term
| What disease has unfunctional CD4 lymphocytes because of mutation in a signalling protein associated with CD3? |
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Definition
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Term
| What are the two types of Bare Lymphocyte Syndrome? |
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Definition
1) MHC II deficiency
- APCs have little MHC II
- decreased CD4 cells (no positive selection)
- deficient DTH responses
- deficient antibody response to T-dependent antigents
2) MHC I deficiency or deficiency of TAP
- decreased CD8 T cells
- more respiratory and bacterial infections |
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Term
What disease causes increased mycobacterial, viral and fungal infections?
Associated symptoms include with abnormal calcium homeostasis, muscle twitching, cardiovascular anomalies and abnomral faces? |
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Definition
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Term
| What causes DiGeorge Syndrome? |
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Definition
Deletion on Chr. 22
Absence of thymus 3rd and 4th pharyngeal pouches fail to develop |
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Term
| What humoral deficiency is caused by an absense of BTK? how is this disease it inherited? |
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Definition
Bruton's agammaglobulinemia (XLA)
X-linked |
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Term
| In X-linked agammaglobulinemia, what are the levels of pre-B cells, mature B cells, and Ig in the blood? |
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Definition
Pre-B cells: present
Mature B cells: absent
Ig: absent (all classes) |
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Term
| What causes X-linked hyper IgM syndrome? How are the levels of B cells and Igs? |
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Definition
Cause: defect in CD40L
B-cell levels are normal, but no memory cells.
IgM dominates, all other Igs deficient. Also autoantibodies present to neutrophils, platelets, and RBCs. |
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Term
| Of all selective immunoglobulin deficiences, which Ig deficiency is most common? Which Ig deficiency is most sever? |
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Definition
IgA is most common
IgM is most severe (but rare).
IgG can be treated by gamma globulin therapy |
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Term
| In common variable immunodeficiency disease (CVID), what are the levels of B cells, T cells, and Igs? |
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Definition
B cells: can be normal
T cells: normal
Igs: none or little, because B cells fail to mature into antibody-secreting cells |
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Term
| True or false. Patients with Bruton's agammaglobulinemia has normal levels of Pre-B cells, germinal centers, mature B cells but no plasma cells or antibodies in the periphery. |
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Definition
| They don't have germinal centers or mature B cells either. |
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Term
What disease is caused by a defect in a protein that's importnat for signal transduction and regulation of the cytoskeleton in lymphocytes?
What are some characteristics associated with this disease? |
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Definition
Wiskott-Aldrich Syndrome (WAS)
Also associated with
- eczema
- thrombocytopenia
- bacterial infections
- low IgM |
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Term
What disease is characterized gamma/delta T cells representing 50% of the peripheral lymphocytes?
What are some other characteristics associated with this disease? |
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Definition
Ataxia telangiectasia
Also associated with:
- cerebellar ataxia
- oculocutaneous telangiectasias (broken caps in eye)
- radiation sensitivity
- Immune defects (thymic hypoplasia, IgA/IgG2 deficiency) |
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Term
| Mutation to what genes cause ataxia telangiectasia? What do the gene products normally do? |
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Definition
Defects to ATM or ATR genes
Normally involved in cell cycle regulation and DNA repair |
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Term
| Mutation to what genes cause Wiskott-Aldrich syndrome? What do the gene products normally do? |
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Definition
defect in CD43 (sialophorin)
Required for actin assembly --> without it cannot activate B cells |
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Term
| What is a key diagnostic test of CGD? |
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Definition
| nitroblue tetrazolium (NBT) test - see if phagocytes can reduce level of NBT |
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Term
| What disease is characterized by NADPH oxidase defect? What are some other characteristics of this disease? |
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Definition
Chronic granulomatous disease (CGD) - inability to form superoxide anions and hydrogen peroxide.
Associated characteristics:
- decreased antigen-presenting ability
- excessive inflammatory reactions
- gingivitis
- swollen lymph nodes
- granulomas
- bacterial & fungal infections
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Term
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Definition
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Term
| What is the disease where neutrophils, monocytes and lymphocytes have trouble adhering to vascular endothelial cells? What are the mutations of the two types? |
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Definition
Leukocyte adhesion deficiencies
1) LAD-1 - problem with Beta-2 integrin
- also CTLs and NK cannot adhere to these target cells
2) LAD-2 - cannot convert GDP-mannose to fucose --> cannot bind to P- and E-selectins |
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Term
| What is the disease that involve the inability of phagocytes to lyse bacteria due to the mutation in LYST? What is LYST involved in? |
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Definition
Chediak-Higashi Syndrome
LYST: regulation of intracellular trafficking --> canot secrete lysosomes to kill bacteria.
Also - lack of skin & eye pigment |
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Term
| What are some examples of secondary immunodeficiency diseases? |
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Definition
- protein-calorie malnutrition
- irradiation and chemo for cancer
- cancer metastases to bone
- immunosuppressive drugs
- removal of spleen
- HIV |
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Term
| What causes hereditary angioneurotic edema? |
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Definition
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Term
| What is UNC-93B deficiency? |
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Definition
- related to TLRs
- deficiency will resude production of IFN and TNF-alpha |
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Term
| What are the effects of a IFN-gamma-R defienciency? |
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Definition
| susceptibility to mycobacterium and salmonella |
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Term
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Definition
- system autoimmunity developed in 1st year of life
- elevated IgE
- associated with T-regs |
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