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Immunology Clinical
Diseases and pathologies
58
Medical
Graduate
08/30/2009

Additional Medical Flashcards

 


 

Cards

Term
According to the lecture, what would be a normal serum level of IgM? What would be considered immunodeficiency? Immune response? Cancer/Myeloma?
Definition

Normal: ~1.25 mg/mL

 

Immunodeficiency or monoclonal gammopathy of Ig A or IgG: <~0.4 mg/mL

 

Infection, polycythemia vera, heroin addiction/infection, Waldenstrom's macroglobulinemia, etc: >~3mg/mL

 

Myeloma, Monoclonal gammopathy: >~10 mg/mL

 

Term
What is Berger's Disease?
Definition

IgA nephropathy --> high circulating levels of IgA complexes deposit in mesangial region of kidney, activate complement.  Eventually leads to renal failure. (50% of transplant pts)

Term
According to the lecture, what would be a normal serum level of IgA? What would be considered immunodeficiency? Immune response? Cancer/Myeloma?
Definition

Normal: ~2.1 mg/mL

 

Immunodeficiency or monoclonal gammopathy of Ig G or IgM: <~0.4 mg/ml

 

Infection, Liver dz, IgA neuropathy or Berger's dz, etc: >~4.5 mg/mL

 

Myeloma, Monoclonal gammopathy: >~10 mg/mL

Term
What is the normal serum level for IgE? What does decreased and increased IgE levels mean?
Definition

Normal - 0.0003 mg/mL

 

Decreased - immunodeficiency, hypo/agammaglobulinemia

 

Increased - allergic disorders, hypersensitivity disorders, parasitic infections, immunologic disorders, infectious mononucleosis, IgE myeloma

Term
According to the lecture, what would be a normal serum level of IgG? What would be considered immunodeficiency? Immune response? Cancer/Myeloma?
Definition

Normal: ~12 mg/mL

 

Immunodeficiency or monoclonal gammopathy of Ig A or IgM: <~0.6

 

Infection, Liver dz, autoimmune dz, cystic fibrosis, etc: ~17

 

Myeloma, Monoclonal gammopathy: >~50

Term
What are some examples of cross-reactivity causing diseases? Name the antigen and the self
Definition

Chlamydia - myocarditis (cardiac muscle)

 

Hepatitis B - Multiple Sclerosis (myelin)

 

Herpesvirus - Myasthenia gravis (nAChR)

 

 

Term
What is Burkitt's Lymphoma? What causes it?
Definition

highly-aggressive B-cell lymphoma

 

Cause: tranlocatons of Chr. 8 (protooncogene myc)

to Chr. 14, 2 or 22 (where H, kappa and lambda chains are)

 

Term
What dyscrasia is caused by a chromosome translocation and presents as mature B cells in the blood?
Definition
Chronic lymphocystic leukemia (CLL) is mature B cells (CD5+) or B-1 cells in blood.  Prognosis if no somatic hypermutaition is 3-4years
Term
What dyscrasia is caused by a chromosome translocation and presents as mature B cells in lymph nodes and other tissues?
Definition
Follicular lymphoma
Term
What is multiple myeloma? How is it related to primary amyloidosis?
Definition

Multiple myeloma is a plasma cell malignancy, which produces too much monoclonal antibodies.

 

Primary amyloidosis

Multiple myeloma causes extra light chains in the blood and ECM which forms amyloid plaques. These plaques build up in extracellular spaces in systemic tissues and lead to multiple organ failure.

Term
What causes secondary amyloidosis?
Definition

Chronic inflammatory conditions (i.e. TB)

or familial Mediterranean fever (hereditary)

Term
What is amyloidosis?
Definition
Abnormal deposition of hyaline, proteinceous material laid down extracellularly that result in atrophy, loss of cells and organ failure.
Term
What is Waldenstrom's macroglobulemia?
Definition

plasma cells and lymphocytes secrete too much IgM.

 

Causes primary amyloidosis, visual impairment, neurologic problems, bleeding, hyperviscosity

Term
What can cause local amyloidosis?
Definition

Alzheimer's (amyloid plaques in brain)

type II DM (amyloid in pancreatic islets_

Term
What dyscrasia is caused by a translocation of chromosomes 12:21, and presents as malignant Pre-B cells in blood and bone marrow?
Definition
Acute lymphoblastic leukemia
Term
What dyscrasia involes the Philadelphia chromosome (9:22) bcr/abl translocation and encodes a novel tyrosine kinase?
Definition
Chronic myelogenous leukemia
Term
What is heavy chain disease?
Definition
Malignancy where heavy chain does not associated with light chain. Light chains found in urine as Bence Jones proteins.
Term
What is the most common complement defiency? And what does it cause?
Definition
C2 deficiency - causes SLE (lupus), dermatomyositis, vasculitis, schonlein-henoch purpura, inflammator bowel disease, glomerulonephritis, juvenile rheumatoid arthitis
Term
Deficiency of what complements/factors can cause increased gram+ bacterial infections?
Definition
C3, Properdin, Factor D deficiency
Term
Deficiency of what complementscan cause increased Neisseria bacterial infections?
Definition
C5-9/MAC deficiency
Term
What are sub-tyes of acute inflammation within tissues and on surfaces?
Definition

Within Tissues:

- Abscesses: focal areas of suppuration

- Phlegmons (cellulitis): spreading abscess

 

On surfaces:

- Ulcers: focal necrosis and inflammation

- Pseudomembranes: diffuse ulceration, spreading ulcers

Term
What are some factors that cause leukocytosis? How can we differentiate inflammation and leukemia?
Definition

IL-1, TNF, CSF, GSF

 

Differential Dx: Immature Band Cells = leukocytosis (inflammation)

Term
What are three types of granulomas and what are some examples of each?
Definition

1) Non-necrotizing

- Sarcoid

- Foreign Bodies

 

2) Necrotizing

- TB (caseating)

- Rheumatoid arthritis

 

3) Suppurative

- chalazion

- cat-scratch dz

Term
What are some outcomes of granuloma formation?
Definition

1) Nodular scarring

2) Calcification (if necrosis)

3) Cavity formation

Term
What are some examples of too much wound healing? too little?
Definition

Too much:

- Strictures

- keloid (tumor-like)

- Exuberant granulation tissue

 

Too little:

- Fistulas

- Sinus tracts

- Dehiscence (wound pulls apart, 4 days after MI)

Term
What is FACS and for what diseases can it be diagnostic?
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

Term
What is the hallmark of Severe Combined Immunodeficiency Diseases (SCID)?
Definition
Impairment of development/function of both T and B cells.
Term
What are some therapies for immunodeficiency diseases? Which is the most effective treatment?
Definition

1) Gamma-globulins

 

2) Bone marrow transplantation

 

3) Supportive antibiotics

 

4) Cytokines

 

5) Gene Therapy

 

Most effective: supportive antibiotics

Term
What are some symptoms of an infancy with SCID?
Definition

- Failure to thrive

- Oral/cutaneous candidiasis

- chronic diarrhea

- opportunistic infections

Term
What are three types of SCID?
Definition

1) X-linked recessive

 

2) Adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) deficiency

 

3) RAG mutation

Term

In X-linked recessive SCID, what deficiency of what cytokine is responsible for the majority of cases?

 

Why is this cytokine deficient?

Definition

IL-2

 

X-linked SCID has mutations encoding the common gamma-chain shared between IL-2, -4, -7, -9, and -15

Term
In X-linked SCID, what are the levels of T cells? B cells? Humoral immunity?
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.

Term
For SCID caused by ADA and PNP deficiency, what are the levels of lymphoctes? Humoral immunity?
Definition

T cell - low

B cell - low

NK cells - low

Humoral immunity - severe hypogammaglobulinemia

Term
How does RAG mutations cause SCID? What happens to the levels of lymphocytes?
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

Term
What disease has unfunctional CD4 lymphocytes because of mutation in a signalling protein associated with CD3?
Definition
ZAP-70 deficiency
Term
What are the two types of Bare Lymphocyte Syndrome?
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

Term

What disease causes increased mycobacterial, viral and fungal infections?

 

Associated symptoms include with abnormal calcium homeostasis, muscle twitching, cardiovascular anomalies and abnomral faces?

Definition
DiGeorge Syndrome
Term
What causes DiGeorge Syndrome?
Definition

Deletion on Chr. 22

 

Absence of thymus 3rd and 4th pharyngeal pouches fail to develop

Term
What humoral deficiency is caused by an absense of BTK? how is this disease it inherited?
Definition

Bruton's agammaglobulinemia (XLA)

 

X-linked

Term
In X-linked agammaglobulinemia, what are the levels of pre-B cells, mature B cells, and Ig in the blood?
Definition

Pre-B cells: present

 

Mature B cells: absent

 

Ig: absent (all classes)

Term
What causes X-linked hyper IgM syndrome? How are the levels of B cells and Igs?
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.

Term
Of all selective immunoglobulin deficiences, which Ig deficiency is most common? Which Ig deficiency is most sever?
Definition

IgA is most common

 

IgM is most severe (but rare).

 

IgG can be treated by gamma globulin therapy

Term
In common variable immunodeficiency disease (CVID), what are the levels of B cells, T cells, and Igs?
Definition

B cells: can be normal

T cells: normal

Igs: none or little, because B cells fail to mature into antibody-secreting cells

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.
Definition
They don't have germinal centers or mature B cells either.
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?

Definition

Wiskott-Aldrich Syndrome (WAS)

 

Also associated with

- eczema

- thrombocytopenia

- bacterial infections

- low IgM

Term

What disease is characterized gamma/delta T cells representing 50% of the peripheral lymphocytes?

 

What are some other characteristics associated with this disease?

Definition

Ataxia telangiectasia

 

Also associated with:

- cerebellar ataxia

- oculocutaneous telangiectasias (broken caps in eye)

- radiation sensitivity

- Immune defects (thymic hypoplasia, IgA/IgG2 deficiency)

Term
Mutation to what genes cause ataxia telangiectasia? What do the gene products normally do?
Definition

Defects to ATM or ATR genes

 

Normally involved in cell cycle regulation and DNA repair

Term
Mutation to what genes cause Wiskott-Aldrich syndrome? What do the gene products normally do?
Definition

defect in CD43 (sialophorin)

 

Required for actin assembly --> without it cannot activate B cells

Term
What is a key diagnostic test of CGD?
Definition
nitroblue tetrazolium (NBT) test - see if phagocytes can reduce level of NBT
Term
What disease is characterized by NADPH oxidase defect? What are some other characteristics of this disease?
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

 

 

 

Term
How can CGD be treated?
Definition
IFN-gamma therapy
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?
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

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?
Definition

Chediak-Higashi Syndrome

 

LYST: regulation of intracellular trafficking --> canot secrete lysosomes to kill bacteria.

 

Also - lack of skin & eye pigment

Term
What are some examples of secondary immunodeficiency diseases?
Definition

- protein-calorie malnutrition

- irradiation and chemo for cancer

- cancer metastases to bone

- immunosuppressive drugs

- removal of spleen

- HIV

Term
What causes hereditary angioneurotic edema?
Definition
C1 inhibitor deficiency
Term
What is UNC-93B deficiency?
Definition

- related to TLRs

- deficiency will resude production of IFN and TNF-alpha

Term
What are the effects of a IFN-gamma-R defienciency?
Definition
susceptibility to mycobacterium and salmonella
Term
What is IPEX syndrome?
Definition

- system autoimmunity developed in 1st year of life

- elevated IgE

- associated with T-regs

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