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CMBM exam 5 > Immune Deficiency > Flashcards

Immune Deficiency Flashcards

1
Q

What is a primary immunodeficiency?

A

Congenital
Inherited genetic defect affecting immune function
Inherited deficiency in enzyme affecting immune response

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2
Q

What is a secondary immunodeficiency?

A

Acquired
Loss of previously functioning immunity
an be due to an infection, toxin, splenectomy, irradiation

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3
Q

What autoimmune disease are caused by neutrophil deficiencies?

A

Congenital neutropenia
Chediak-Higashi syndrome
Leukocyte adhesion deficiency
Chronic granulomatous disease

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4
Q

What are the autoimmune diseases caused by B-cell deficiencies?

A 
Congenital X-linked agammagloulinemia
Common variable immunodeficiency
Selective IgA deficiency
Hyper IgM syndrome
Hyper IgE syndrome (job;s syndrome)
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5
Q

What are the autoimmune diseases caused by T-cell deficiencies?

A

DiGeorge sydrome
Severe combined immunodeficiency
Wiskott-Aldrich syndrom
Ataxia-Telangiectasia

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6
Q

Which is the most common primary immunodeficiency syndrome?

A

Selective IgA

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7
Q

How many cases of chronic granulomatous disease (CGD) are X linked?

A

2/3

1/3 or autosomal

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8
Q

What is the main deficiency in chronic granulomatous disease?

A 
Cytochrome-B deficiency = no NADPH oxidase
No oxidative burst
Can't recycle NADP - no ROS
Impaired killing by neutrophils
Inflamm response - granulomas
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9
Q

What does chronic granulomatous disease cause clinically?

A

Life-threatening bacterial and fungal infections
“walling off” of microbes within granulomas
Children often die of septicemia by age 7 yrs

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10
Q

What is the treatment for chronic granulomatous disease?

A

Antibiotics and IFNy

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11
Q

How does the nitroblue test work?

A

The nitro blue chemical reacts with macrophages making NADPH and if they are it makes the cell walls a dark blue color
If there is not function you see a clear color indicitive of an NADPH or myeloperoxidase deficiency

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12
Q

What are the clinical features of chronic granulomatous disease?

A

Inflammation of the nares
Granuloma in the neck
Severe gingivitis
As esophageal stricture caused by granuloma

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13
Q

What is the main cause of Chediak-Higashi syndrome?

A

Defect in polymerization of microtubules in neutrophils
Defective neutrophil migration
Failure of phagocytosis
Failure of lysosomal function in neutrophils

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14
Q

What is the defective gene in Chediak-Higashi syndrome?

A

CHS1 on chromosome 1

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15
Q

What are the clinical manifestations of Chediak-Higashi syndrome?

A

Recurrent pyogenic infections
Partial albinis,
Peripheral neuropathy
Abnormal platelet formation = thrombocytopenia

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16
Q

What is the main cause of Leukocyte adhesion defect (LAD)?

A 
Deficient chemotaxis 
defect in CD18 integrin gene expression = deficiency in LFA-1 leading to;
No adhesion to ICAM
Neutrophils unable to bind endothelium
Inability of neutrophils to extravaste
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17
Q

What are the clinical manifestations of Leukocyte adhesion defect?

A

Recurrent soft tissue, peridontitis, skin, respiratory infections
Impaired wound healing (no pus, little infla)
Inc WBC

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18
Q

What signs would you see in a pt with Leukocyte adhesion defect?

A

Normal neutrophil aggrigation

Neutrophils form but fails to aggregate

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19
Q

What is the main cause of hyper IgE disease (Job’s disease)

A 
Failure to produce IFNy by T helper cells 
Humoral immune response not inhibited
Inc in Th2 cells (no neg feedback)
High IgE
High histamine, eosinophilia
Recurrent staph infections
Eczema
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20
Q

What are some characteristics of compliment defeciencies?

A

Rare, mostly autosomal recessive

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21
Q

What happens if there is a deficiency in early components C1, 2, and 3?

A

Pyogenic infections (oposonin deficiency)

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22
Q

What happens if there is a deficiency in late component C5?

A

Causes issues with the membrane attack complex

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23
Q

What happens if there is a deficiency late components C6, 7, 8 and 9?

A

Little adverse effects, slow lysis

Intracellular infection risk

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24
Q

What is the main cause of hereditary angioedema?

A

A deficiency in C1-inhibitor (C1-INH)
Unabated activation of C2 and C4
Generation of Kinins = inc vascular perm = edema

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25
Q

What are the clinical manifestations of hereditary angioedema?

A

Facial edema
Abdominal pain
Asphyxiation

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26
Q

What are defective in paroxysmal noctournal hemogloinuria?

A

CD59 and DAF (decay accelerating factor)

rare

27
Q

What are the clinical manifestations of paroxysmal noctournal hemogloinuria?

A

Complement mediated RBC destruction (intravascular)

Hemolytic anemia

28
Q

What are the characteristics of B-cell deficiencies?

A 
Overall dec in antibody production (Bruton's aggamaglobulinemia)
Selective deficiency involving a class or subclass
29
Q

What is the main defect in X-linked Aggamaglobulinemia (XLA)?

A

Mutation of the gene encoding for Tyrosine Kinase

30
Q

What are the main issues with X-linked aggamaglobulinemia?

A

Interfere with VDJ gene rearrangement machinery
Failure of pre-B cells to differentiate to B-cells
Cell mediated function is normal

31
Q

When would XLA begin?

A

6 mo of life, after maternal immunity wears off

32
Q

What are the clinical manifestations of XLA?

A

Recurrent otitis media, diarrhea, pneumonia

Individual infections may be no more severe then in general population but they are chronic

33
Q

How would XLA be diagnosed?

A

No IgM or IgA
Dec in IgG
T-cells in normal numbers and function

34
Q

What is the treatment for XLA?

A

Periodic gamm-globulin injection - passive protection
Antibiotics for individual infections
No live viral vax

35
Q

What is transient hypogammaglobulinemia?

A

Delay in production of immmunoglobulins

Recurrent extracellular bacterial infections

36
Q

How is transient hypogammaglobulinemia diagnosed?

A

Dec IgG

Dec but measurable IgM and IgA

37
Q

What is the treatment for transient hypogammaglobulinemia?

A

Antibiotics for individual infections

No need to IVIG

38
Q

What characterizes common variable immunodeficiency?

A

Defective antibody production
M:F equal
B-cells present but do not change into plasma cells
Recurrent pyogenic infections

39
Q

When does common variable immunodeficiency appear?

A

Age 15 to 30

40
Q

What is the diagnosis for common variable immunodeficiency?

A

Dec IgG, IgA and IgM

B cells normal

41
Q

What is the treatment for common variable immunodeficiency?

A

IVIG

42
Q

What is selective IgA deficiency?

A 
May be an issue with differentiation of B-cells into IgA-secreting plasma cells (class switching)
Most common primary immunodeficiency
43
Q

How is selective IgA deficiency diagnosed?

A

Very love IgA
Normal IgG
IgM usually normal to elevated

44
Q

What are the clinical manifestations to IgA deficiency?

A

Asymptomatic
Recurrent GI infection, respiratory infections
Inc incidence of autoimmune disease

45
Q

What are the characteristics of hyper IgM syndrome?

A

Rare, X-linked

Defective express of CD40L (CD154) on T cells

46
Q

How is hyper IgM diagnosed?

A

CD40L mutation analysis
Inc IgM
Dec other Igs

47
Q

What are the clinical manifestations of hyper IgM?

A

Recurrent bacterial infections
Sinopulmonary infections
Sclerosing cholangitis
Inc incidence of autoimmune disease

48
Q

With a T-cell deficiency what is a person more susceptible to?

A

Inc intracell pathogens; viral, fungal, parasitic

Inc frequency of opportunistic and low virulence pathogens; cryptosporidium, candida, pneumocystis, MAI

49
Q

What are the congenital malformations in DiGeorge syndrome?

A

I, II, III, IV, VI

Most deletion at 22q11

50
Q

What are the clinical manifestations of DiGeorge?

A 
Cardiac defects
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
(CATCH 22)
51
Q

What is done in the lab analysis for DiGeorge?

A

of peripheral blood lymphocyte dec
CD3+ dec
Serum calcium dec
No thymic shadow

52
Q

What are the clinical manifestations of DiGeorge?

A

Recurrent infections
Tetany
Tetrology of fallot
Cleft palate

53
Q

What are the typical presentations for severe combined immunodeficiency (SCID)?

A

Chronic diarrhea
Pneumonia
Persistent fungal infection

54
Q

What is implicated in at least 50% of all SCID cases?

A

X-linked IL-2Ry deficiency

55
Q

What are the micro signs for X-linked IL-2Ry deficiency ?

A 
B cells present but not functional
Hypogammaglobulinemia
IL-2R needed for T cell prolif
IL-15R needed for NK development 
IL-17R prolif of lymph stem cells
56
Q

What is the main deficit of Adenosine deaminase (ADA) deficiency?

A

Accumulation of deoxyadenosine derivatives
Inc intracell adenosine
Inhibits ribonucleotide reducatse = dec DNA precursors

57
Q

How id ADA dianosed?

A

Low or absent ADA levels and inc d-Ado in urine

58
Q

How is ADA treated?

A

ADA replacement, BMT, gene therapy

59
Q

What characterizes Wiskott-Aldrich syndrome?

A

Rare, X-linked defect in the WAS protein gene

60
Q

What are the understood (sort of) mechanisms to Wiskott-Aldrich?

A

Defective actin polymerization - poor leukocyte trafficking

Dec expression of CD43 (major receptor on T-cell)

61
Q

What are the findings in Wiskott-Aldrich?

A

Lymphocytes: dec T-cells, low IgM, normal IgG, elevated IgA and IgE
Clinically: Recurrent pyogenic infections, thrombocytopenia (severe), eczema

62
Q

What is the treatment of Wiskott-Aldrich?

A

BMT

Life expectancy 11 yrs

63
Q

What is the cause of ataxia-telangiectasia?

A

ATM gene mutation on chromosome 11

Pleimorphic changes in cellular response to radiation, cell cyclecontrol, intracell transport of proteins

64
Q

What are the three types of bare lymphocyte syndrome?

A

Type I: defective MHC-I
Type 2: defective MCH-II
Type 3: both are defective

CMBM exam 5 (19 decks)

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