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POD Exam 3 > Immunodeficiency > Flashcards

Immunodeficiency Flashcards

1
Q

X-linked SCID

A

MOST COMMON

gamma chain receptor mutation
dec. T cell maturation - no IL-7 signal
B cells fine , but dec. IgG bc no T helper
NK deficient - no IL-15 signal

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2
Q

AR SCID due to ADA deficiency

A

Dec T, B, IgG

accumulation toxic metabolites in lymph - dATP

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3
Q

AR SCID due to PNP deficiency

A

Dec T cells

B and IgG normal

accumulation of toxic metabolites - dGTP

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4
Q

AR SCID due to other causes

A

Dec T, B, IgG

defect/mutation in IL-7R signaling : missing JAK3

RAG gene mutation

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5
Q

How is SCID treated?

A

Treat early
Stem cell transplant - ideal. Compatible donor needed
Gene therapy - Success with ADA def

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6
Q

Gene therapy in x-linked SCID

A

Normal gamma gene introduced in BM stem cell – then back into patient

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7
Q

Bruton’s agammaglobulinemia X-linked (XLA)

A

Maturation defect of B cells
- BTK mutation
cant go from pre to mature B
mom- carrier, MALES get it

diagnosed at 5-6 mo bc maternal Ig present until then

Repeated bacterial infections due to virtual absence of all Ig classes

treat with gamma globulin injections

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8
Q

XLA - infants develop reccurent what

A

otitis media
pneumonia
sinusitis

S. pneumo, H. flu (extracellular encapsulated bacteria, staph)

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9
Q

XLA - missing what in peripheral blood? serum Ig levels?

State of germinal centers? Plasma cells? T cells? increase is seen in what?

A 
CD19
decreased 
Underdeveloped germinal centers
no plasma cells
normal t cell reactions
increased autoimmune disease
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10
Q

DiGeorge Syndrome

A

3rd and 4th pharyngeal pouches - dysmorphogenesis

hypoplasia/aplasia of thymus/parathyroid with facial and heart abnormalities

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11
Q

What are two main presentations of DiGeorge?

A

Neonatal tetany

Absent thymic shadow

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12
Q

Whats normal/abnormal in DiGeorge?

A

dec T cell count, absent Ab resp, LN - depletion of paracortical areas

thymic tissue contains hassall’s corpuscles, normal thymocyte density, corticomedullary distinction present

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13
Q

some physical features in children with DiGeorge?

A

small jaw, cleft lip/palate, low set ears, underdeveloped parathyroid, learning difficulties, cardiac malformation

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14
Q

Whats deleted in DiGeorge?

A

22q11 deletion
q11.2 on long arm of chromosome 22

required for dev of brachial arch and great vessels

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15
Q

X-linked hyper IgM syndrom is defect in what?

A

lymphocyte activation

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16
Q

What is the mutation seen in X-linked hyper IgM syndrome?

A

Mutation in CD40L gene on X chromosome - T cell/CD4+

no class switching of Ig bc help needed from T cell–> elevated levels of IgM

Defects in CMI (DTH)

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17
Q

Selective IgA deficiency

A

most Common primary deficiency
low serum IgA - other isotypes normal

asymptomatic or recurrent sinopulmonary infections + diarrhea

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18
Q

Common Variable immunodeficiency

A

failure in maturation of B cells into plasma cells

Low IgG and IgA

normal to low IgM

mature B cells present, just plasma cells absent

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19
Q

major problems with Common Variable Immunodef

A

Respiratory and GI infections with PYOgenic bacteria

20
Q

Wiskott-Aldrich Syndrome

A

X-linked

Triad:

  • low platelet count - thrombocytopenia
  • skin rashes (eczema)
  • Recurrent bacterial infections

Can’t respond to bacterial polysaccharides

LOW IgM
treat with gene therapy

21
Q

Ataxia Telagiectasia

A

Not an immunodeficiency

MULTISYSTEM disorder

  • staggering gate
  • abnormal vessel dilation - spider veins
  • affects BOTH T and B cells

low IgA, IgG
CANT RESPOND to SKIN tests

reduced T cells

22
Q

What do you see with defects in innate immunity

A

Recurrent intracellular bacterial and fungal infections

23
Q

Leukocyte adhesion deficiency

A

no adhesion of leukocyte to vasc. endothelium
limits recruitment to site of infl

Defects on Leukocyte :

  • selectin ligand
  • beta chain of integrin

NO PUS formation

Bacterial infections

24
Q

Chediak-Higashi syndrome

A

Giant cytoplasmic granules in phagocytes
granules dysfunctional

CANT kill bacteria

25
Q

Chronic Granulomatus disease

A
  • defective production of reactive oxygen intermediates
  • intracellular survival

nitroblue tetrazolium test (NBT)

26
Q

what is used to test respiratory burst

A

nitroblue tetrazolium test (NBT)

Neutrophil function test

27
Q

Complement deficiencies are seen in:

increases incidence of?

A

infections with encapsulated organisms

C2 and C4: inc incidence of immune complex diseases

neisseria infection

28
Q

Regulation defect in complement deficiency:

A

deficient C1 inhibitor –> excessive C4 and C2 activation –> localized edema

29
Q

Paroxysmal nocturnal homoglobulinemia

A

deficiency in DAF

Host cell NOT protected from activation of complement - too much activation – intravascular hemolysis

night time - pH drop

30
Q

2 main categories of secondary immunodeficiency

A

biological complication of another disease

immunosuppression due to therapy

31
Q

biological complication of another disease

A

Protein-calorie malnutrition : inhibit maturation/function
imparied Ab/T cell

Adv widespread cancer: bone marrow tumors can interfere with normal leukocyte development or produce substance that interferes with lymphocyte function

Parasitic/viral infections: HSV - secrete proteins similar to IL-10 or reduced exp of IL-12 due to tyrpanosoma cruzi

32
Q

Complication from therapy

A

drugs that kill/inactivate lymphocyte

  • antiinflammatory
  • immunosuppressive
  • reduce activation, block cytokine, impaired leukocyte trafficking

Absence of spleen

  • decreased phagocytosis of microbes
  • INCREASED suscpetibility to ENCAPSULATED bacteria
33
Q

what is likely due to absence of spleen?

A

secondary immunodeficiency

  • dec phagocytosis of microbes
  • inc susceptibility to encapsulated bacteria
34
Q

Physiologic hypogammaglobulinemia

A

Neonatal period

  • placental IgG
    declines after birth - low around 3 - 6 months
35
Q

Transient hypogammaglobulinemia of infancy (THI)

A

prolongation of physiologic hypogammaglobulinemia

9-15 mo, 2-4 yr until normal

test IgG levels

usually normal Ab response to immunization with tetanus, diptheria toxoids

36
Q

what is immunosenescence?

A

changes in immunity with increasing age

clinical consq:

  • inc infections
  • cancer
  • autoimmune disease
37
Q

Features of immunosenescence

A

impaired ability to respond to new Ag

unsustained memory resp

greater propensity for autoimmune response

lingering, low-grade inflammation

38
Q

Primary immunodeficiency

Maturation defect

A

SCID
XLA
DiGeorge syndrome

39
Q

Primary immunodeficiency

Activation and function defect

A

X-linked hyper-IgM syndrome
Common variable immunodeficiency
Bare lymphocyte syndrome

40
Q

Primary immunodeficiency

INNATE imm defect

A

Chronic granulomatus disease
LAD
Complement deficiencies
Chediak-Higashi syndrome

41
Q

Primary immunodeficiency

lymphocyte abnormalities associated with OTHER DISEASES

A

Wiskott-Aldrich syndrome

Ataxia-telangiectawsia

42
Q

B cell deficiency

A

germinal center

pyogenic - bacterial/viral

43
Q

T cell deficiency

A

paracortical
red. DTH

viral/intracellular infections - NOT pyogenic.

44
Q

Innate immune def

A

variable

pyogenic bac/viral inf

45
Q

What happens with all immunodeficiencies?

A

INC susceptibility to new acq infections
Reactivation of latent infections
INC incidence of cancers

46
Q

when to suspect immunodeficiency?

A

sever
persistent
unusual
recurrent

Other:
change in weight/growth
family hist
swollen lymph/spleen
Autoimmune disorders
47
Q

What are the 3 main autoimmune disorders that can clue you to immunodeficiency?

A

Rheumatoid arthiritis
Type 1 Diabetes
Systemic lupus erythematosus

POD Exam 3 (6 decks)

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