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(OMS1) SFM Exam 2 > Final: Primary Immunodeficiencies > Flashcards

Final: Primary Immunodeficiencies Flashcards

1
Q

What is the pathology behind B cell deficiencies? What are you more susceptible too?

A
  • Absent or reduced follicles and germinal centers in lymphoid organs
  • Reduced serum Ig levels

Susceptible to bacterial and viral infections

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2
Q

What is the pathology behind T cell deficiencies? What are you more susceptible too?

A
  • Reduced T cell zones in lymphoid organs
  • Reduced DTH reactions
  • Defective T cell proliferative responses

Susceptible to intracellular and viral infections + cancers

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3
Q

What is the pathology behind innate immunity deficiencies? What are you more susceptible too?

A

Really depends on what is defective

Susceptible to bacterial and viral infections

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4
Q

What are some key features of immunodeficiencies?

A
  • Chronic, severe, recurrent
  • Not responsive to antibiotic therapy
  • Atypical microbes and opportunistic pathogens involved
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5
Q

What are Primary Immune Immunodeficiencies?

A
  • Manifested in first years of life after maternal immunoglobulins disappear
  • Can be defects in innate or adaptive immunity
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6
Q

Why would you screen for humoral immunity?

A

Recurrent sinopulmonary bacterial infections

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7
Q

Why would you screen for cell-mediated immunity?

A

Recurrent viral/fungal infections

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8
Q

Why would you screen for phagocyte deficiency?

A

Recurrent skin abscesses/fungal infections

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9
Q

Why would you screen for complement deficiency?

A

Bacteremia

Meningitis with encapsulated bacteria

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10
Q

What lab test would you order for adaptive immunity deficiency?

A

Differential count of blood cells (Complete CDC)

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11
Q

What lab test would you order for T-cell deficiency?

A

DTH skin test

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12
Q

What lab test would you order for humoral deficiency?

A

Serum Antibody Count

Ab testing to specific Ag

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13
Q

What lab test would you order for complement deficiency?

A

Total hemolytic complement assay

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14
Q

What lab test would you order for phagocytic deficiency?

A

Nitroblue Tetrazolium Test

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15
Q

What is SCID?

A

Reduced T Cell, B Cell, and NK Cells

  • present with persistent infections, oral thrush, chronic diarrhea, and failure to thrive
  • Severe lymhphopenia
  • As a fetus, risk of abortion from maternal T cells
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16
Q

What are the different immunophenotypes for SCID?

A

T-B-NK-: Adenosine-deaminase Deficiency

T-B-NK+: Artemis or RAG 1/2 Deficiency

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17
Q

What is Adenosine Deaminase Deficiency?

A

T-B-NK-

  • ADA important for adaptive immunity maintenance and development (especially T cells)
  • Without ADA, build-up of deoxyadenosine, which is toxic
  • Low Ig count
  • Autosomal recessive disorder
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18
Q

What is Purine Nucleoside Phosphorylase Deficiency?

A

T- B+/- NK+/-

  • Accumulation of dGTP, which is toxic
  • Early onset of neurological abnormalities
  • Autoimmune disorders are common: hemolytic anemia, thyroid disease, arthritis, lupus
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19
Q

What is Artemis Deficiency?

A

T- B- NK+

  • Artemis is important for repairing double strand breaks and an enzyme in VDJ recombination
  • Diarrhea, candidiasis, Pneumocystis jiroveci pneumonia
20
Q

What is Rag 1 and Rag 2 Deficiency?

A

T- B- NK+ and Low Ig

  • Impaired VDJ recombination
  • Diarrhea, candidiasis, Pneumocystis jiroveci pneumonia
  • Can lead to Omen Syndrome: severe erythroderma, splenomegaly, eosinophilia, high IgE
21
Q

What is Jak3 Deficiency?

A

T- B+ NK+

  • Mutation in Janus Kinase 3
  • Defect in Il-2 signaling
  • Autosomal Recessive
22
Q

What is agammaglobulinemia?

A

B cell development is arrested at Pre-B stage

  • very few circulating B cells
  • mostly X-linked but can be autosomal recessive
23
Q

What is X-linked Btk Kinase Deficiency?

A

Mutation in a tyrosine kinase that causes a defect in rearrangement of Ig Heavy Chains

No IgM, IgG, or IgA serum antibodies

24
Q

What are Isolated IgG deficiencies?

A

Decreased concentrations of IgG subclasses

  • Associated with recurrent viral/bacterial infections in respiratory tract
  • Normally low levels of IgG2
25
Q

What is IgA deficiency?

A

IgA secreting B cells have disorders or maturation or terminal differences

  • Recurrent infections with encapsulated bacteria
  • Often develop autoimmune diseases and allergies
  • Can have anti IgA antibodies that can lead to anaphylaxis in response to IVIG transfusions
  • Relatively high incidence
26
Q

What is Digeorge Syndrome?

A

T Cell deficiency due to deletion in 22q11.2

  • Important symptoms: Cardiac anomalies, hypocalcemia, and hypoplastic thymus
  • Humoral immunity is present
  • Can give live viral vaccine in some cases
27
Q

What is Hyper IgM syndrome?

A

High IgM and low other Ig

  • Mutations in CD40L (no triggering of class switching)
  • Increased susceptibility to bacterial infections
  • Low number of CD27 memory B cells
  • can be X linked or autosomal
28
Q

What is transient hypogammaglobulinemia?

A

For the first few years of life, IgG/IgA production is delayed

  • IgM is normal
  • Increased susceptibility to sinopulmonary infections
29
Q

What is common variable immune deficiency?

A

Defect in Ab production and associated with hypogammaglobulinemia

  • History of recurrent sinopulmonary infections
  • reduced circulating B cells: low Ig (sometimes IgM normal)
  • Onset starts around 4-5 but diagnosed at 20-30
  • Autosomal disorder
30
Q

What is γ Chain Deficiency? (aka IL-2Rγ)

A
  • Deficiency in IL-2 Receptor
  • No functional B cells
  • Most common reason for SCID
  • Patient presents with failure to thrive, severe thrush, opportunistic infections, and chronic diarrhea
  • X linked
31
Q

What is IL-7R α Chain deficiency?

A
  • IL 7 plays early role in T cell development
  • Low Ig levels but B cells are present
  • Classic SCID symptoms
32
Q

What is Bare Lymphocyte Syndrome Type II?

A

No MHC Class II expression on APC cells

  • mutations in TF that regulate expression
  • Deficiency in CD4
  • Variable hypogammaglobulinemia
33
Q

What is MHC Class I Deficiency?

A

Mutation in TAP 1

  • CD8 Deficient
  • Recurrent viral infections
  • Normal Ab production
  • Normal DTH
34
Q

What are CD3 complex deficiencies?

A

CD3 deficiencies in subunits

  • Lymphopenia and decreased T cell numbers
  • specific antibody responses decreased
  • Patients present with failure to thrive, opportunistic infections, and chronic diarrhea
35
Q

What happens with defects in IFN γ and IL-12?

A

Cytokines released by T Cells and NK Cells

-susceptible to nontuberculous mycobacteria

36
Q

What is Th17 Deficiency?

A

Mutations in IL-17, IL-17R, STAT 1, STAT3, or AIRE

-susceptible to chronic muocutaneous candidiasis

37
Q

What is IPEX?

A

Mutation in FOXP3 resulting in loss of inhibition in Treg cells

  • self reactive T cells are not inhibited
  • X linked
38
Q

What is ALPS?

A

Autoimmune Lymphoproliferative Syndrome

  • defects in Fas/FasL, caspase 8, or caspase 10
  • resists apoptosis
39
Q

What is Wiskott-Aldrich Syndrome?

A

Mutations in protein that leads to:

  • Decreased IgM
  • Normal IgG
  • Increased IgA and IgE

Recurrent encapsulated bacterial infections
Also pneumocystis and candida

40
Q

What is NK Cell Deficiency?

A

Mutations in multiple genes

  • Classical: GATA2 deficiency (no NK cells)
  • Function NKD: NK cells present but are defective

Severe viral infections

41
Q

What is C8 Complement Deficiency?

A

Increased susceptibility to Neisserial Infections

-Autosomal Recessive

42
Q

What is Bradykinin-Induced Angioedema?

A

C1-INH Inhibition

-deals with vasodilation, capillary permeability, fluid extravasation, and edema

43
Q

What is Hereditary Angioedema?

A

Mutation with C1 inhibitor

-painful, recurring attacks fo swelling

44
Q

What is Paroxysmal Nocturnal Hemoglobinuria?

A

Failure to regulate formation of MAC

  • deficiency of glycosylphosphatidylinositol
  • lack GPI anchor proteins (DAF) and CD59
  • intravascular hemolysis
45
Q

What can cause deficiencies in TLR?

A

MyD88 deficiency

-severe infections from pyogenic bacteria

(OMS1) SFM Exam 2 (11 decks)

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