0201101230 - Mfm Ii - Immunodeficiency Diseases (Alley)

Front 1

What two types of genetic congenital immunodeficiencies are most common?

Back 1

1. autosomal recessive
2. x-linked

Front 2

What mutations are most common that cause immunodeficiences?

Back 2

proteins or glycoproteins

Front 3

What types of pathogens will infect more with B cell and innate immune deficiencies?

Back 3

extracellular pathogens

Front 4

What types of pathogens will infect more with T cell deficiencies?

Back 4

intracellular pathogens

Front 5

What happens if phagocytes are defected?

Back 5

extracellular bacteria and fungi infections become chronic

Front 6

What happens if there is a complement deficiency?

Back 6

Neisseria infections increase

Front 7

What happens if there is a NK cell deficiency?

Back 7

Herpes simplex infections are more common

Front 8

What are the three primary congenital immune deficiencies?

Back 8

1. SCIDs - combined lymphocyte lineage
2. T-cell immunodeficiency
2. B cell immunodeficiency

Front 9

What causes SCID?

Back 9

severe T cell dysfunction -> B cell dysfunction (thanks maternal IgG) -> recurrent persistent infection (like candida/thrush, HSV). this is divided into classes of severity.

Front 10

How is SCID divided into classes?

Back 10

based on what cells are defective
1. all are T cell dysfunctional
2. can be B lymphocyte (+) or (-)
3. can be NK cell (+) or (-)

Front 11

How does SCID present?

Back 11

presents like an infection that can't be cleared:
1. failure to thrive
2. no lymphadenopathy
3. fever
4. dehyration

Front 12

What is X-linked SCID and Autosomal recessive SCID caused by?

Back 12

X-linked - mutation in IL-2Rgamma
Autosomal - variety of mutations

Front 13

What does the X-linked SCID mutation cause functionally?

Back 13

T-, B+, NK-
gamma chain for all IL receptors are affected

Front 14

What kinds of Autosomal Recessive SCID are there?

Back 14

1. JAK3 deficiency
2. purine salvage pathway defect
3. RAG1/RAG2 deficiency

Front 15

What is significant about JAK3 deficiency?

Back 15

T-, B+, NK-
due to defect in tyrosine kinase that attaches to the gamma chain of the IL receptor

Front 16

What is significant about the purine salvage pathway defect?

Back 16

T-, B-, NK- for adenosine deaminase deficiency causing all cell defects
T-, B+, NK- for purine nucleoside phosphorylase deficiency causing thymocyte deficiency

both cause nucleotide build-up

neonates have neurological defects

Front 17

What is significant about the RAG1/RAG2 defect?

Back 17

reduced or absent T and B cell function. reduced or absent Ig levels. very little diversity because can't do proper somatic recombination

Front 18

What is significant about Wiskott-Aldrich syndrome?

Back 18

X-linked recessive disorder causing defect in Wiskott-Aldrish syndrome proteins (WASp) that causes defects in actin cytoskeleton regulation. problems clearing encapsulated bacteria and viral infections, have a lot of skin lesions, short stature, without bone marrow transplant will die.

Front 19

What is the SCID tx?

Back 19

bone marrow transplant

Front 20

What is DiGeorge Syndrome?

Back 20

thymic hypoplasia or aplasia as a result of 22q11.21 through 22q11.23 deletion.

presents as low ears, close eyes, fish mouth, large forehead.

Front 21

What is Bare Lymphocyte Syndrome?

Back 21

MHC-1 deficiency -> T-, B+, NK+ w/ loss of CD8 T cells
MHC-II deficiency -> T-, B+, NK+ w/ loss of CD4 T cells

Front 22

What is Bruton's Syndrome/X-linked agammaglobulinemia?

Back 22

mutation in the btk gene -> B cells never develop past pre-B cell stage -> no IgM, no isotype switching ->

Front 23

What is Hyperimmunoglobulin M/X-linked Hyper IgM syndrome?

Back 23

x-linked recessive mutation of CD40L -> B cell can't bind to T cell -> IgM very high, all other Ig very low (CD40:CD40L is needed for isotype switching) -> pyogenic bacteria infections common because IgM can't get out of blood, into tissue

Front 24

*What is Selective IgA deficiency/IgA immunodeficiency?*

Back 24

MOST COMMON IMMUNODEFICIENCY
a lot of mucus membrane infections, specifically respiratory. can onset late in life. high levels of IgM, normal levels of IgG (differential for Hyperimmunoglobulin M)