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SFM Final > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

What time do primary immunodeficiencies generally start appearing?

A

When mom’s IgG disappears

around months 5-13?

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2
Q

What two SCIDs are generally associated similarly? affecting VDJ recombination on the heavy chain?
What is unique to each?
What are key characteristics of both?

A

SCID
Low Igs, HSCT, A-R
only NK present
diarrhea, candidiasis, OB-PJ

Artemis: Radiosensitivity

  • risk of Lymphomas
  • VDJ recombination++++
  • Double stand breaks++++++

RAG: pre TCR and BCR
-Leaky RAG= OMENN– severe erthroderma, SpMy, Eosinophilia, High IgE

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3
Q

If a patient presents with low ig’s but a high IgE, as well as SpMy and diarrhea, what does he have?

A

SCID
OMENN syndrome
severe RAG-leaky rag

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4
Q

X-Linked SCID is defined with what?

A

defective IL2R chain mut.
No T’s and functioning Bs
Males—Bubble boys

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5
Q

Adenosine Deaminase def.

A 
SCID
Low Ig's 
No TBNK's
A-R
HSCT
-Accumulate toxic deoxyadenosine++++
-normally would be turned into doxyinosine
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6
Q

Which SCID has no Ig presence? And basically accumulates a toxic compound harmful to patients?

A

SCID
ADA def
–deoxyadenosine

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7
Q

Purine Nucleoside Phosphorylase PNP?

A 
SCID
Lacks T
NK could be lacking or present
no Ig change
A-R
HSCT
dGTP accumulates
-hemolytic anemia, thyroid dis, arthritis, lupus
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8
Q

All Ig’s are normal, Bcells are present, NK’s are sometimes there, SCID symptoms
-dGTP accumlation

A

SCID

PNP def.

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9
Q

JAK3 def

A 
SCID
Low Ig's
Lacking T and NK
Present Bcells
A-R
HSCT
Defective IL-2 receptor
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10
Q

What do you have if IL-2 signaling is faulty? with SCID symptoms?
Can HSCT be a treatment?
Whats the TBN count?

A

SCID
Jak3 def.
Yes
No T or NK

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11
Q

What is Agammaglobulinemia?

A 
Ab/Bcell Mat
X-linked or some A-R
BTyrKinase BTK mutation
No Igs or very low
No Abs-no Heavy chain rearrangement
No Bcells
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12
Q

Disease in males with no Antibodies are being made?
BTK gene mutation
-No Bcells

A

Agammaglobulinemia- X-linked btk kinase def.

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13
Q

Isolated IgG def.

A 
Ab/Bcell Mat
-Some IgG low
BTNK all present.
-recurrent infections viral/bact
-Poor polysaccharide response in children
-Ig4 lacking many times
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14
Q

A child that isn’t responding well to polysaccharides has what?
All BTNK present

A

IgG def.

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15
Q

IgA def. (relatively high rate-1/700)

A

Ab/Bcell Mat

  • Most individuals are healthy
  • often males
  • No IgA
  • BTNK all normal
  • IgM across membrane makes up for lack (assymptom)
  • Recurrent inf (encapsulated bact), Autoimmune disease and allergy

-may have serum anti-IgA IgG- linked to development of non-IgE anaphylaxis in response to intravenous immunoglobulin transfusion

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16
Q

Patient has all BTNKs, (is a male), and got a blood transfusion that gave him major allergic response?

A

IgA def

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17
Q

DiGeorge Syndrome?

A 
Ab/Bcell Mat
No Tcell (or very low)
Normal Igs
Low set ears
CATCH-22
Cardiac defects
Abnormal facies
Thymic hypoplasia ++++++(underdeveloped)
Cleft palate
Hypocalcemia
22q11 deletion
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18
Q

Patients with hypocalcemia, cardiac issues? and low set ears? Thymus issue?

A

DiGeorge Syndrome DGS

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19
Q

Hyper IgM syndrome HIGM?

A 
Ab/Bcell Mat
HSCT
Impaired class switching (somatic hypermutation)
-Low Cd27+ mem Bs
-high IgM, Low G,A
-Defective CD40L (M) X-link
.66
-CD40 (both) .33 (Autosomal)
All BTNK
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20
Q

Patient w/ persistent bact infection, but CD40 isn’t binding?

A

Hyper IgM

-defective CD40s

21
Q

Transient Hypogammaglobulinemia of Infancy

A 
Ab/Bcell Mat
Low IgG/A
All BTNK
-Delay in intrinsic Ig production (IgG disappears maternal in 6mo)
-IgM may be fine
-Sinopulmonary infections
22
Q

Common Variable ID CVID

A

Ab/Bcell Mat
HSCT
Low IgG/A..sometimes M
associated w/ hypogammaglobulinemia
-Group of disorders
-mutations in Bcell GFs or costimulators
-Bcells in circulation can be lowered but not always
-Recurrent pyogenic sinopulm infect…no plasma cell differentiation-no Abs
Usually diag at 20-30 years although onset is 4-5 yrs

23
Q

20 year old patient w/ low IgG and A. Isn’t producing Abs, and gets sinus infections often?

A

CVID Common Variable

Bcell GFs or Co-stim mutations

24
Q

Gamma chain def.

A 
Tcells
HSCT
-Very low GAM
-No T or NK....only B (but they are NOT functional)
-XLINKED rec
-Opportunistic infections
-FTT, thrush, diarrhea
-Most common SCID (45%)
-IL-2Rgamma chain gene
25
Q

Patient with no Ts or NKs…Bs are not functional due to T lack…. Male. SCID symptoms of FTT, diarrhea, frequent infections

A

Gamma Chain def.

26
Q

IL-7R Alpha Chain def.

A 
Very low GA
Auto Recessive
-HSCT
IL-7 in early Tcell development
-No Ts
Candidiasis, diarrhea, PJ pneumonia, severe viral infection
27
Q

Patient unable to make Tcells due to absence of major signal. Low Ig levels. Pneumonia.

A

IL-7R Alpha Chain def

28
Q

Bare Lymphocyte Syndrome 2 BLSII

A

Tcell
HSCT
Auto Recessive (rare)
-low CD4+ Ts…no MHCII expression on APCs**
Genes for MHCII is still intact
-Variable hypogammaglobulinemia (mainly IgA and IgG2)
-recurrent respiratory, GI, Urinary inf…early child death

No CD4+ but does have CD8+
No NKs

29
Q

Patient missing MHC II receptors on Ag-presenters. Has no Cd4+ Ts. Has Hypogammaglobulinaemia.

A

BLS type II

30
Q

MHC Class I def.

A 
Low CD8+ 
Low/non-func NKs
-recurring viral infections
Mutation in TAP1 (transfering peptides to ER)
Auto Recessive
Treat symptoms
31
Q

Patient with non-functioning TAP1. No working NKs.

A

MHC Class I def.

32
Q

CD3 Complex def

A 
Tcells/ SCID
Auto Rec
HSCT
-No Ts
Low IgG and A
-FTT, viral inf, diarrhea
Def. of CD3 subunits (delta, gamma, epsilon, zeta)
33
Q

IFN-gamma-IL-12 Path

A

No production of Th1 cytokine IFNgamma (intracellular bact.)

  • susceptible to nontuberculous mycobacteria, candida, salmonella
  • defects in Th17s that cause fungal inf.
34
Q

Th17 def.

A

Many have hyper IgE syn

  • Mutations in IL17, IL17R, STAT1, 3, or AIRE**
  • chronic mucocutaneous candidiasis
  • severe atopic disease/skin abscesses
35
Q

Lacking AIRE or have hyper IgE syndrome.

A

Th17 def.

36
Q

Wiskott-Aldrich WAS

A

WASP mutation (structure)

  • XLINKED
  • Low M, High A,E
  • No/lacking Tcells and NKs (dec cytotoxicity)
  • recurrent bact infection

-It is characterized by eczema, a low platelet count (thrombocytopenia), and susceptibility to bacterial infections. Patients with WAS have a mutation in gene that encodes a cytoplasmic protein expressed exclusively in bone-marrow derived cells. This protein interacts with adaptor molecules such as Grb-2 and with small G proteins of Rho family that regulates the actin cytoskeleton.

37
Q

Patient (M) with eczema, No functional NKs, low Ts.

A

WAS

38
Q

NK Cell def. NKD

A

NK abnormality
Classical: Absence of NK—GATA2 def

Functional: defective NK act—Perforin def

39
Q

Chronic granulomatous def.

1 in 217,000 people

A

Phago disorder-tend to form granulomas

  • most frequent phag ID++++++++
  • more common in Men Enzymatic def of NADPH oxidase
  • can’t gen superoxide ion and radicals Can’t kill extracell pathogens (bact, fungi)
  • recurrent inf w/ catalase positive organisms
40
Q

G6P DH def

(1 in 20 people)!!!!!

A

X-linked R

  • Lack NADPH substrate
  • Anemia
  • most ind. have no symptoms
  • Granulomas!
41
Q

Myeloperoxidase def

(1 in 4,000 people)!!

A

Impaired killing of phogocytosed bacteria

  • chronic infect
  • Impaired oxygen species production
42
Q

Chediak-Higashi syndrome

rare

A

Patients wheelchair bound and die by inf by 30s+++++
-blunted Neutrophelia-delayed diapedesis

Defect- abnormal giant granules+++ w/ no Cathepsin G/Elastase
-1st: inf suscept
-2nd: hepato/lymphad-
Enopathy Abnormal chemotaxis and degranulation
-Partial albinism+++++
NO NK activity++++

43
Q

Chediak-Higashi syndrome

rare

A

Patients wheelchair bound and die by inf by 30s+++++
-blunted Neutrophelia-delayed diapedesis

Defect- abnormal giant granules+++ w/ no Cathepsin G/Elastase
-1st: inf suscept
-2nd: hepato/lymphad-
Enopathy Abnormal chemotaxis and degranulation
-Partial albinism+++++
NO NK activity++++

44
Q

C3 complement def.

rare

A

Looks just like an Ab def.

45
Q

Classical Path (C1/C4) def.

A

Unable to clear immune complexes
C2–Strep pneumoniae+++
–Caucasians common

C1/4 - systemic lupus erythematosus or rheumatoid arthritis

46
Q

C8 deficiency

A

Late comp proteins (C5-9)
A-R

Suscept to Neisserial inf ++(many species invasive)

Causes: inherited, acquired def, complement
comsumption

Absence of C8 w/ presence of C3 and 4

47
Q

C1-Inhibitor def.

A

Hereditary Angiodema++++
-Swelling/fluid/pain

Swelling-Bradykinin
In extremities, face, lips, GI, larynx

Treatment: C1 inhibitor, replacement therapy

48
Q

Paroxysmal Nocturnal Hemoglobinuria PNH

A

Failure to reg MAC complex formation
-somatic mutation—def. of glycosylphosphatidylinositol

DAF and Cd59 anchor prot.
-intravascular hemolysis

49
Q

TLR def

A

Autosomal Dominant!!!!
-susceptible to HSV

MyD88 def++++

Impaired TLR signaling (except for TLR3-which is MyD88 ind) ++++

Freq, severe inf- pyrogenic bact
(normal resist to other bact, virus, fungi, paras)

Lack fever
Low blood lvls of Proinflamm- TNFalpha, IL1, IL6++++pryos

SFM Final (4 decks)

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