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Molecule to Malady > BC - L1 > Flashcards

BC - L1 Flashcards

1
Q

Topics discussed?

A

antibodies & B cell development
primary immune deficiencies
current therapies

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2
Q

antibodies & B cell development topics?

A

types of antibodies
mapping variability
Ig variability
B cell development
Gene rearrangement
mutations that block B cell development
signalling success in Ig rearrangement

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3
Q

Describe an antibody

A

-

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4
Q

Type of Ig? (in order)

A 
IgG (includes IgG1, IgG2, IgG3, IgG4 subtypes)
IgA (includes IgA1 and IgA2 subtypes)
IgM
IgD
IgE
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5
Q

How do you map Ig variability?

A 
divide into isotypes
isolate Ig(G) heavy chains
sequence and compare AAs
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6
Q

Describe the immune cell development pathway

A

-

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7
Q

Describe the light and heavy chain genes

A

-

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8
Q

Describe the recombination process

A

-

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9
Q

What does TdT do?

A

terminal deoxynucleodyl transferase is unique to B cells and adds extra, random nucleotides to the broken ends at VDJ junctions (not a light chain)

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10
Q

Describe the B cell development pathway

A

-

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11
Q

Describe the mutations that block B cell development

A 
E2A
RAG
Artemis
Lig4
DNA-PK
BTK
BLNK
SLC
Igm
Iga & Igb
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12
Q

How does the cell know if a successful heavy chain has been made?

A

-

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13
Q

What are PIDs? List two examples

A

congenital disorders
antibody deficiencies
combined T and B cell deficiencies

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14
Q

What are antibody deficiencies? Give 3 examples

A

loss of some or all humoral Ab immunity with cellular immunity intact
HIGM (CD40, CD40L defs.)
XLA (Ig defs)
CVID

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15
Q

Mutations causing agammaglobulinaemia?

A 
XLA (85%) (due to BTK - de novo)
m heavy chain
SLC
Iga/b
BLNK
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16
Q

Symptoms of agammaglobulinaemia?

A

no or very little serum immunoglobulin of any isotype
no circulating B cells but normal T cells
recurrent infections primarily Strep. pneumonia & Haemophilus influenza
recurrent otitis in children and sinusitis in adults

17
Q

What are combined deficiencies? 2 examples

A

combined loss of humoral and cellular immunity
SCID
HIGM

18
Q

Mutations causing CIDs?

A

RAG1/2

Artemis

19
Q

Symptoms of CIDs?

A

no or very little serum immunoglobulin of any isotype
may be circulating B cells and NK cells but no T cells
recurrent viral, fungal and bacterial infections
usually lethal in early childhood

20
Q

Current therapies for agmma without B cells?

A

IVIg - Intragram

SCIg (less distance between peaks

Molecule to Malady (29 decks)

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