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Winter 2016 > B&L Unit 3 > Flashcards

B&L Unit 3 Flashcards

(103 cards)

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1
Q

What is a primary immunodeficiency?

A

Mutations in genes required for normal development of parts of the immune system

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2
Q

What is secondary immunodeficiency?

A

It has an underlying cause

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3
Q

What is the defect in SCID-X1? (3)

A

Defect in gene for gamma chain that forms receptors for IL-2 and other cytokines necessary for lymphoid development or their signalling pathways

Can also result from adenosine deaminase deficiency, MHC class II deficiency

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4
Q

What happens in X-linked (Bruton) agammaglobulinemia?

A

Protein tyrosine kinase is defective -> no mature B cells

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5
Q

What types of infections to people with Bruton agammaglobulinema have?

A

Bacterial infections -> pneumonia, chronic diarrhea

Enteroviruses

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6
Q

What happens in X-linked hyper IgM syndrome?

A

Defect in IgM to IgG switch

CD40 (B cells) or CD40 ligand (T cells)

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7
Q

What happens in common variable immunodeficiency?

A

B cells are difficult to activate

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8
Q

What happens in DiGeorge syndrome?

A

Absent 3rd and 4th pharyngeal pouches -> no thymus (or parathyroid)

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9
Q

What type of pathogens are T cell deficiencies associated with? B cell deficiencies?

A

Intracellular pathogens, especially candida and pneumocystis jirovecii

Extracellular, pyogenic (high-grade) bacteria like staph, haemophilus, strep

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10
Q

What comorbidity is common in selective IgA deficiency?

A

Celiac disease

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11
Q

What happens in ataxia telegiectasia?

A

T and B cell deficiency (not absolute)
IgA depression
Sinus infections, pneumonia, ataxia, telangiectasia (dilated abnormal blood vessels), tumors

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12
Q

What happens in Wiskott-Aldrich syndrome?

A

Platelet and B cell deficiency
Eczema
Bacterial infections
X-linked

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13
Q

What is a lymphoma called that presents at a site that is not a lymph node?

A

Extranodal

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14
Q

What is the most common chromosomal abnormality in hematologic malignancies?

A

Balanced translocations

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15
Q

What are 3 viruses that can cause hematologic malignancies?

A

Epstein-Barr -> various B cell lymphomas
Human T cell leukemia virus-1 (HTLV-1)  adult T cell leukemia/lymphoma
Kaposi sarcoma herpesvirus/Human herpesvirus 8  primary effusion lymphoma

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16
Q

What 5 parameters does the WHO use to classify heme malignancies?

A

Microscopic appearance
Histologic growth patterns
Presence or absence of specific cytogenic/molecular findings
Relative amounts of cells in marrow and blood
Presence or absence of cell surface, cytoplasmic, and/or nuclear markers

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17
Q

What is myelodysplastic syndrome?

A

The marrow is overtaken by a neoplastic blood cell clone incapable of making normal blood cells

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18
Q

What is a myeloproliferative neoplasm?

A

The marrow is overtaken by a neoplastic blood cell clone that makes normal functioning myeloid cells

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19
Q

What is a non-hodgkin lymphoma?

A

Lymphomas of mature-appearing lymphocytes (that aren’t Hodgkin lymphoma or plasma cells)

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20
Q

CD________ marks B cells

A

20

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21
Q

CD________ marks T cells

A

3

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22
Q

What lymphocyte levels are found in CLL/SLL? (chronic lymphocytic leukemia/small lymphocytic lymphoma)

A

> =5 E9/L

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23
Q

What is the most common genetic alteration in follicular lymphoma?

A

Translocations of chromosomes 4 and 18, which places the BCL2 gene on chromosome 18 under influence of the IGH promoter on chromosome 14

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24
Q

What is mantle cell lymphoma?

A

A B-cell neoplasm. Characterized by BCL1 gene rearrangement  overexpression of cyclin D1

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25
3 mechanisms of tissue damage in autoimmunity?
Neutrilization Complement-mediated damage Stimulatory hypersensitivity (autoantibodies can act as agonists)
26
Myasthenia gravis involves autoantibodies against __________
Acetylcholine receptor
27
Goodpasture syndrome involves autoantibodies against ____________
Lung and kidney basement membranes
28
Dressler syndrome involves autoantibodies against ____________
Heart
29
What is hybrid antigen formation n autoimmune disease?
B cell binds self + a foreign epitope Foreign epitopes is presented to Th2 on class II MHC B cell is activated and secretes antibody to self
30
Mnemonic for stuff that happens in DiGeorge syndrome
CATCH-22 Calcium – lack of parathyroids -> can’t regulate calcium. Presents first usually as neonatal convulsions Appearance – wide set eyes, low-set ears, fish mouth Thymus - missing Clefts (palate) Heart – many big defects in development of big veins Chromosome 22 defect as a de novo mutation
31
What is IVIg used for besides immunodeficiency?
Anti-inflammatory
32
Why do we give irradiated RBCs to people with SCID?
RBCs have high adenosine deaminase | Irradiation kills lymphocytes
33
What is the innocent bystander process of loss of self-tolerance?
An antigen gets attached to normal tissue and then gets fucked up by the immune system
34
What is an indirect vs. a direct immunofluorescence test?
Direct - look for antibody attached to its target | Indirect - look for antibody in serum
35
What cell type is in the mantle zone of the lymph node?
B cells
36
What cell type is predominantly in the light zone of a germinal center? Dark zone?
Centrocytes Centroblasts These are both B cells
37
Cancer of the immature B cell
B-cell acute lymphoblastic leukemia/lymphoblastic lymphoma B-ALL/LBL
38
Cancer of the mantle cell
Mantle cell lymphoma
39
3 cancers of the germinal center B cell
Follicular lymphoma Burkitt lymphoma Hodgkin lymphoma
40
Pre or post-germinal center B cell cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma | CLL/SLL
41
Plasma cell cancer
Plasma cell myeloma (multiple myeloma)
42
5 risk factors for acute leukemia
``` Previous chemotherapy Tobacco smoke Ionizing radiation Benzene exposure Genetic stuff like Down syndrome, Bloom syndrome, Fanconi anemia, ataxia-telangiectasia ```
43
What age group does acute lymphoblastic leukemia occur in?
Usually in children under 6 yo
44
What 2 things do we look for to identify lymphoblasts?
``` CD34 TdT expression (not expressed by myeloblasts or mature lymphocytes) ```
45
What 3 things do B-lymphoblasts express? What do they not express?
CD19, 22, and/or 79a CD20
46
Which subgroup of B-acute lymphoblastic leukemia has the worst prognosis?
Ph+ ALL | The Philadelphia chromosome: t(9;22) -> BCR-ABL fusion protein
47
Which subgroup of B-acute lymphoblastic leukemia has the best prognosis?
t(12;21)(p13;q22) ETV6-RUNX1
48
Does T-ALL often come with a component of lymphoblastic lymphoma?
Yes. It often manifests as a large mediastinal mass.
49
What CDs do T-lymphoblasts express?
CD2-8 CD99 CD1a
50
How does number of chromosomes affect ALL prognosis?
Hiperdiploidy - good | Hypodiploidy - bad
51
What distinguishes a myeloblast morphologically?
Auer rods
52
What CDs indicate monocytic differentiation of myeloblasts?
CD64 | CD14
53
What CDs indicate megakaryocytic differentiation of myeloblasts?
CD41 | CD61
54
What does RUNX1 do?
Encodes the alpha unit of core binding factor | This is a transcription factor needed for differentiation
55
What does CBFB do?
Encodes the beta unit of core binding factor | This is a transcription factor needed for differentiation
56
What is the translocation for acute promyelocytic leukemia?
t(15;17)
57
What leukemia can cause DIC?
Acute promyelocytic leukemia
58
How can you treat a subset of acute promyelocytic leukemia?
Retinoic acid receptor-alpha becomes a fusion gene that works less well Can give high doses of retinoic acid
59
What are 3 causes of neutropenia?
Kostmann syndrome Schwann-Diamond syndrome Cyclic neutropenia
60
What is sjogren syndrome?
An autoimmune reaction against exocrine glands, especially those that secrete tears and saliva
61
What is a visible sign of vasculitis?
Palpable purpura
62
What 2 things characterize myelodysplastic syndrome?
Ineffective hematopoiesis | Increased risk of transformation to acute myeloid leukemia
63
What is the difference between low and high grade myelodysplastic syndrome classification?
Low - myeloblasts are
64
What is the main genetic change in chronic myeloid leukemia (CML)?
``` Fusion of BCR-ABL1 From t(9;22) This is the philadelphia chromosome ```
65
What is the drug we use for CML (chronic myeloid leukemia)
imatinib (Gleevec) | It is a protein tyrosine kinase inhibitor
66
What is the main genetic change in polycythemia vera?
Mutation of JAK2
67
What is the ultimate result of polycythemia vera and primary myelofibrosis?
Fibrosis of the bone marrow so more blood cells cannot be produced
68
What are the 2 leukemias with BCR-ABL fusions?
CML | B-ALL
69
Which lymphoma makes a starry sky histological pattern?
Burkitt lymphoma
70
What is the immunophenotype of Burkitt lymphoma? 5 positive 2 negative
B Cell markers: CD19, CD20 Germinal center B cell markers: CD10, BCL6 Myc Negative: CD5, CD23
71
What is the translocation for Burkitt lymphoma?
t(8;14) Fuses the MYC gene, overexpression MYC, which is a transcription factor
72
What is the most common type of non-Hodgkin's lymphoma?
Diffuse large B-cell lymphoma
73
Which hematologic malignancy results in lytic bone lesions?
Plasma cell myeloma (multiple myeloma)
74
Where do tumor cells usually hang out in plasma cell myeloma?
In the bone marrow
75
What is the most common monoclonal gammopathy (too many immunoglobulins)
MGUS - monoclonal gammopathy of undertermied significance
76
What is a solitary plasmacytoma of bone?
An individual tumor of plasma cell myeloma. There is no evidence of other bone lesions. So I think it's when you have plasma cell myeloma and only have 1 bone tumor
77
What is the immunophenotype of classic hodgkin's lymphoma? 2 positive, 1 neative
CD30, CD15 | No CD45, a common leukocyte antigen
78
What are the 4 hodgkin's lymphoma subtypes?
Nodular sclerosis Mixed cellularity variant Lymphocyte rich variant Lymphocyte depleted variant In order of frequency!
79
What complement coponents attract neutrophils?
C3a | C5a
80
Which antibody is helpful for helminth defense? Where are these antibodies?
IgE, which binds to FcER1 receptors on the surface of mast cells
81
What things attract eosinophils?
Prostaglanding | Leukotrienes
82
What do eosinophils release that kills helminths?
Major basic protein
83
What signals the mast cell to degranulate?
IgEs on bound to the FcER1 receptors that are cross-linked by antigen
84
Why don't oral antigens affect the rest of the gut?
Because they are destroyed by stomach acid. They can cross the mucus membranes though and encounter mast cells in the oral cavity
85
What are the two components of asthma?
Bronchoconstriction inflammation
86
When an activated Th2 cell goes out into the body and locates a helmint, what 2 cells does it attract?
Eosinophils | M2 macrophages
87
What is atopy?
A tendency to be "hyperallergic”. So they are more likely to have eczema, allergic rhinitis, or asthma. It gets worse
88
What are 2 common myeloid markers that are usually not on lymphoblasts?
CD117 | Myeloperoxidase
89
What is t-AML?
AML arising secondary to DNA damage from a prior therapy Bad prognosis
90
Myelodysplastic syndrome is a precursor to _____
AML
91
What is dyshematopoiesis?
>10% of cells in a lineage are dysplastic?
92
IL-4 is chemotactic for _______ and _______
Eosinophils | M2 macrophages
93
What does IL-5 do to eosinophils?
Upregulates production and release of eosinophils from bone marrow
94
What 3 things are released in the late phase of an allergic reaction?
Prostaglandins Leukotrienes ECF-A
95
What are the 3 phases of CML?
Chronic Accellerated BLast
96
What is the translocation for Burkitt lymphoma?
MYC | t(8;14)
97
What condition are auer rods in?
AML
98
What are 4 myeloproliferative neoplasms?
CHronic myelogenous leukemia Polycythemia vera Primary myelofibrosis Essential thrombocythemia
99
What are the 2 stages of polycythemia vera?
Polycythemic phase | Spent phase / post-PV myelofibrosis
100
What kills you in polycythemia vera?
Thrombosis
101
Why does primary myelofibrosis cause hepatosplenomegaly?
Extramedullary hematopoiesis
102
How does primary myelofibrosis differ from polycythemia vera?
No increased erythrocytes, though megakaryocytes and granulocytes are increased
103
What mutation is common in essential thrombocythemia?
Jak2

Winter 2016 (8 decks)

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