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HDM (Sophia's) > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

What is artemis a player in?

A

VDJ recombination and double strand break repair in T and B cells

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2
Q

What causes MHC class I deficiency?

A

inability of TAP1 to transfer peptides to ER –> no MHC I –> CD8 cell deficiency –> recurrent viral infections

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3
Q

Is common variable immunodeficiency genetic or acquired?

A

can be both
inherited = defects in B cell formation
acquired = Abs formed against B cells

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4
Q

What 2 types of SCID involve IL-2 signaling?

A

X-linked and JAK3

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5
Q

What happens in x-linked recessive SCID?

A

gamma chain of IL-2R is messed up –> T cells can’t help B cells –> SCID

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6
Q

What does low levels of IgG2 cause in children?

A

poor response to polysaccharid Ags

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7
Q

What is IPEX’s genetic inheritability?

A

X-linked

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8
Q

What is Wiskott-Aldrich syndrome’s genetic inheritance?

A

x-linked recessive

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9
Q

What happens in Chediak-Higashi syndrome?

A

no cathepsin G and elastase in lysosomal granules of leukocytes –> no chemotaxis or granulation
see giant granules in neutrophils

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10
Q

What happens in X-linked lymphoproliferative syndrome?

A

mutations in gene encoding SAP –> uncontrolled EBV-induced B cell proliferation and CTL activation
defective NK and CTL function and Ab response

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11
Q

What is the most common form of SCID?

A

gammaC deficiency = 45% of cases

this is x-linked!

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12
Q

What 2 disorders result in self-reactive T cells not being apoptosed?

A

IPEX and ALPS

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13
Q

How common is ADA-type SCID?

A

16% of cases are this

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14
Q

What happens in MPO deficiency?

A

Can’t turn H2O2 into bleach in granules

almost exclusively seen in diabetics

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15
Q

Why are fetuses w/ SCID sometimes miscarried?

A

they are unable to reject the maternal T cells that cross into fetal circulation in utero

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16
Q

What are the 3 genetic causes of hyper IgM syndrome?

A

X linked = mutation in CD40L
super rare x linked = mutation in AID
autosomal = CD40 mutation

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17
Q

What two types of SCID are due to issues with VDJ recombination?

A

RAG1/RAG2

Artemis

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18
Q

What is Chediak higashi syndrome’s genetic inheritance?

A

autosmal recessive

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19
Q

What are immunodeficiencies w/ defects in Th17 differentiation caused by?

A

mutations in genes encoding STAT3, IL-17, IL-17R

20
Q

What is the clinical presentation of variable immunodeficiencies?

A

reduced levels of IgG, IgA, and often IgM –> poor response to infections

21
Q

What is the genetic cause of DiGeorge’s syndrome?

A

deletion of 22q11 chromosome

10=25% of parents have deletion, but are asymptomatic

22
Q

What do Ab numbers look like in Wiskott-Aldrich syndrome?

A

low IgM
IgG normal
IgA and IgE elevated

23
Q

What is the most common phagocytic disorder?

A

MPO deficiency

24
Q

What is hyper IgM syndrome in general?

A 
defective b cell heavy-chain class switching --> IgM is the major serum Ab
due to absence of CD40-CD40L or AID signaling
25
Q

How does Wiskott-Aldrich syndrome clinically present?

A

bleeding and bruising, recurrent infection by encapsulated bacteria
at risk for autoimmune diseases and cancer

26
Q

What can be mutated in autosomal recessive agammaglobulinemia?

A

BLNK, Ig-alpha, mu chain, or gamma5 are mutated

27
Q

What is Wiskott-Aldrich syndrome caused by?

A

defect in cytoskeletal protein, WASP = in hematopoietic lineage –> platelets and leukocytes don’t develop right, are small, and fail to migrate normally
*progressive decrease in t cells

28
Q

What are the key clinical features of DiGeorge’s syndrome?

A

parathyroid and thymus hypoplasia
malformation of heart outflow
reduction in T cells
hypocalcemia –> can cause tetany or seizures

29
Q

What is the genetics of G6PD deficiency?

A

x-linked recessive

30
Q

What is bare lymphocyte syndrome?

A

defect in expression of MHC II –> decreased CD4+ T cells –> variable IgA and IgG2 deficiency

31
Q

What does a deficiency in ADA cause?

A

buildup of deoxyadenosine –> toxic to T and B cells –> T-, B-, NK- = SCID

32
Q

What does artemis deficiency cause?

A

B and T cells can’t mature –> T and B cell deficiencies

33
Q

What deficiencies is SCID associated with?

A

T, B, and sometimes NK cell function

34
Q

What is often the focus of clinical management in DiGeorge’s syndrome?

A

cardiac defects

35
Q

What is severe chronic neutropenia?

A

grp of immunodeficiencies w/ defect in life cycle and anatomy of neutrophils

36
Q

What is ALPS?

A

defects in Fas, FasL, caspase-8 or caspase 10 –> no death-inducing signaling complex –> no apoptosis of self-reactive T effector cells

37
Q

What is the genetic cause of bare lymphocyte syndrome?

A

genes for MHC II are intact!

mutations are in genes for transcription factors that regulate expression!

38
Q

What is IPEX?

A

mutation in FOXP3 –> T regs dont work –> self-reactive T effector cells not eliminated

39
Q

What is important to know about IgA deficiency?

A

common
often asymptomatic
disorder of B cell maturation so it can’t secrete IgA

40
Q

What are defects in Th1 differentiation caused by?

A

IL-12 or IFN-gamma mutations

41
Q

What can sometimes cause variable immunodeficiency?

A

CD19 mutation –> no costimulation for B cell to become activated

42
Q

What does adenosine deaminase do?

A

eliminates deoxyadenosine which is generated by DNA breakdown –> prevents toxicity to lymphocytes

43
Q

What are opportunistic organisms?

A

pathogens of low virulence that normal people can easily hold in check; invade when host’s guard is lowered (ie immunodeficiency

44
Q

What is the clinical presentation in autosomal recessive agammaglobulinema?

A

similar to x-linked

cant get from pre-B to immature B –> severe lack of B cells and secondary lymphoid organ shrinkage

45
Q

What Ig do many healthy people not have?

A

IgG4

46
Q

What happens in x-linked agammaglobulinemia?

A

mutation in BTK gene –> can’t get from pre-B cell to immature B cell –> no rearrangement of Ig Heavy chain

secondary lymphoid organs are poorly developed bc absence of mature B cells and Igs

HDM (Sophia's) (10 decks)

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