Chapter 6- Transplants, Immunodeficiency Flashcards

1
Q

The gene assoaciated with Chediak higashi codes for what

A

LYST, which helps regulate lysosomes transportation

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2
Q

What is the cause of bare lymphocyte syndrome

A

Mutations in the transcription factors needed for MHC 2 molecules

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3
Q

Which protein is mutated in Wiskott-Aldrich syndrome

A

Wiskott-Aldrich syndrome protein (WASP)

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4
Q

What is the intestinal protazoan that is common in patients with X linked agammaglobulinemia

A

Giardia lamblie (usually protected by IgA)

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5
Q

What are the clinical presentation of common variable immunodeficiency

A

Antibody deficient, resembling X link gammaglobulinemia

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6
Q

What is the function of the ataxia telangiectasia mutated (ATM) protein

A

A sensor of DNA damage (double stranded breaks) and works to activate p53

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7
Q

Patients with Leukocyte deficiency type 2 have defects in what

A

Defects in fucosyl transferase, which makes the sialyl-Lewis X, which is the ligand for the P and E selectin

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8
Q

What is JOB syndrome

A

Defects in Th1 responses leading to mycobacterial infections, with Th17 defects leading to chronic mucocutaneous candidiasis and bacterial infections of skin

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9
Q

Defects in the SAP protein lead to what

A

Attenuation of NK and T cells, leading to viral infections, inability to form germinal centers

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10
Q

How does a C1q inhibitor lead to hereditary angioedema

A

Unregulated proteases leads to increase of kallikrein and bradykinin, which increases permeability

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11
Q

What type of pathogens are Digeorge patients prone to

A

Fungal and viral infections

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12
Q

What are the levels of T cells in Wiskott-Aldrich syndrome

A

-Normal early in life, but there is the progression of T cell loss in the peripheral LNs and blood

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13
Q

What is the mechanism of disease in X linked agammaglobulinemia

A

Deficient BTK does not allow the signal transduction in B cells to allow the placement of a light chain in place of the surrogate light chain

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14
Q

What deletions ion the gene are the cause of DiGeorge symptoms

A

-TBX1 (brachial arch development)

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15
Q

What is the location of defect in X linked agammaglobulinemia

A

Xq21.22

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16
Q

Patients with Chediak-Higashi syndrome have defects in what

A

Defective fusion of phagosomes and lysosomes, which inhibit phagocytes function

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17
Q

What condition does X linked lymphoproliferative syndrome commonly lead to

A

Fulminant infectious mononucleosis and B cell tumors

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18
Q

What are the main abnormalities seen in Chediak higashi syndrome

A

1) Nuetropenia
2) Defective degranulation
3) delayed microbial killing

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19
Q

What infections are patients with common variable immunodeficiency prone to

A

Recurrent sinopulmonary pyogenic infections and recurrent herpesvirus infections

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20
Q

What is the genetic component to Wiskott-Aldrich syndrome

A

X linked

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21
Q

Which infections are ataxia telangiectasia prone to

A

Upper and lower respiratory bacterial infections, cancers

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22
Q

What are the cytokines that are affected by X linked SCID

A

IL-2,4,7,9,11,15,21

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23
Q

What happens when isolated IgA deficient patients are transfused with IgA therapy

A

Go into anaphylaxis reaction as IgA is treated as a foreign antigen

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24
Q

Patients with chronic granulomatous disease have defects in what

A

Defects in phagocyte oxidase, which is used to create superoxide

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25
What are common non immuno related symptoms seen with Chediak higashi syndrome
- Albinism (abnormal melanocytes) - Nerve defects (abnormal nerves) - Bleeding disorders (abnormal platelets)
26
What are the clinical presentations of Ataxia Telangiectasia
Abnormal gait (ataxia), vascular malformations (telangiectases), neuro defects, increased tumors, and immunodeficiency
27
What protein is commonly mutated in X linked lymphoproliferative syndrome
SLAM associated protein (SAP)
28
Where is the location of WASP
Xp11.23
29
Leukocyte adhesion deficiency Type 1 and 2 lead to recurrent infections due to
Inadequate granulocyte function
30
At what age does X linked agammaglobulinemia become appearant and what are the signs
6 months after birth, and begins with recurrent bacterial infections
31
What about the donor APCs in direct rejection allow for T cell activation
Express high levels of MHC1,2 and costimulatory molecules
32
What is the most common complement deficiency
C2
33
Deficiencies in the alternative pathway proteins properdin and factor D are assocaited with which infection
Recurrent pyogenic infections
34
X linked agammaglobulinemia is characterized by what
Failure of B cell precursors to develop into mature B cells
35
What is the defective gene product in ataxia telangiectasia
ataxia telangiectasia mutated (ATM)
36
What percentage of X linked lymphoproliferative syndrome is associated with a mutation in SAP
80%
37
Autosomal recessive SCID is caused by a defect in what
Adenosine deaminase (ADA)
38
How long after transplantation is the acute cellular rejection seen
Within months
39
paraxysomal nocturnal hemoglobinuria is marked by deficiencies of
Complement regulatory factors
40
What is the location of gene defect in ataxia telangiectasia
Chromosome 11
41
What is the genetic correlation with Chediak highashi syndrome
Autosomal recessive
42
How do genetics play a role in X-linked SCID
More common in makes than females
43
Gene therapy to fix X linked SCID is associated with which condition
T cel lymphoblastic leukemia (20% of pts)
44
What is the state of the APC in direct rejection
Donors APC present in the graft and activate host cells
45
What is the most common X linked variant of chronic granulomatous disease
The membrane bound component gp91phox
46
Patients with hyper IgM syndrome have defects in which products
Loss of function mutation in CD40 | Loss of function mutation in AID
47
How do genetics cause C1q inhibatory defects
Autosomal dominant
48
Are CTLs present in the indirect rejection
No
49
What is the most common autosomal recessive defect in chronic granulomatous disease
Cytoplasmic components p47phox and p67phox
50
What is the cause of DiGeorge’s
22q11 deletion syndrome
51
Acute antibody mediated rejection commonly sees what being deposited
C4d
52
What other conditions are seen with hyper IgM syndrome
Autoimmune hemolytic anemia, thrombocytopenia, and neutropenia
53
What is the mechanism of action for tacrolimus
Aka FK506, which is similar to cyclosporine and inhibits phosphatase calcineurin, which is required for NFAT activation
54
Hyper IgM syndrome are the result of a mutation in which chromosome area
Xq26
55
What are the clinical presentations of DiGeorge’s syndrome
Loss of T cell immunity, Tetany, defects of heart and great vessels
56
Which type of rejection is most similar to pathogen recognition
Indirect, since it is the host MHC presenting the donor antigens
57
Why can CTLs not kill donor tissue in the indirect pathway
CTLs recognize the graft antigens presented by the host’s APC, but can not recognize the graft tissue directly
58
What are the main defects in ataxia telangiectasia
Defective production of isotype switching antibodies IgG2 and IgA
59
What is the very common pathogen in HSC transplanted hosts
Cytomegalovirus, which induces pneumonitis
60
Defects in TLR3 leads to increased rates of which infection
Herpes simplex encephalitis
61
What are the clinical presentations of chronic granulomatous disease
Defects in killing bacteria and persistent recurring bacterial infections. Usually lead to granulomas
62
Defects in MyD88 is assocaited with increased infections of
Bacterial pneumonia
63
Digeorge syndrome is caused by the lack of development of what
3rd and fourth pharyngeal arch
64
What are the levels of CD19 and Ig receptors in patients with X linked agammaglobulinemia
CD19 levels are normal, but the Ig levels are low
65
What can not be given as a vaccine to kids with X linked agammaglobulinemia
Live poliovirus vaccine
66
Patients with isolated IgA deficiency also commonly are deficient in which antibody
IgG4 and IgG2
67
What is the effect of cyclosporine
Immunosuppressive drug that is nephrotoxic, so can cause damage
68
isolated IgA deficiency can be acquired via which infections
Toxoplasmosis, measles, or other viral infections
69
What are the three immunosupressor drugs being used
1) Steroids 2) Mycophenolate mofetil 3) Tacrolimus
70
What are the three common bacterial infections in X linked agammaglobulinemia
1) Haemophilus influenza’s 2) Streptococcus pneumoniae 3) Staphylococcus aureus
71
What are the clinical presentations of a patient undergoing acute GVHD
Damage to bile ducts, leading to jaundice, and mucosal ulceration leading to blood stool
72
What does hyperacute rejection show
Platelet and fibrin thrombin, neutrophil infiltrate, ischemic injury
73
Deficiency of C1 inhibator leads to which condition
Hereditary angioeema
74
Are allograft rejections more or less powerful than microbe reactions
More powerful due to higher frequency of T cells that recognize donor tissue as compared to microbe antigens
75
One of the most frequent infections from transplants is
Polyoma virus
76
X linked SCID is associated with a defect in what
Mutations in the common gamma chain subunit of cytokine receptors
77
What are the characteristics of Wiskott-Aldrich syndrome
Thrombocytopenia, eczema, recurrent infections
78
In antibody mediated rejection of an organ, what seems to be the initial target
Graft vasculature
79
What is the genetic component of Ataxia telangiectasia
X linked
80
What is the defective enzyme in X linked agammaglobulinemia
Briton tyrosine kinase (Btk)
81
What are the common viral infections associated with X linked agammaglobulinemia
-Enteroviruses (echovirus, poliovirus, coxsackievirus)
82
The condition of X linked lymphoproliferative syndrome is characterized by the inabilty to clear which infection
EBV,
83
Patients with Leukocyte deficiency type 1 have defects in what
Beta chain of integrins LFA-1 and Mac-1 (aka CD11/18)
84
Patients with hyper IgM syndrome are particularly prone to which pathogen
Pneumocystis jiroveci
85
Infants with SCID present with which conditions
Thrush, extensive diaper rash, failure to thrive.
86
Wha type of reaction is the indirect pathway rejection of organs
Delayed hypersensitivity reaction, but no CTLs
87
During the acute cellular rejection of a transplant organ, what is doing the damage
Increased permeability and accumulation of mononuclear cells, leading to activation and damage via macrophages
88
What are the Ig levels in Wiskott-Aldrich syndrome
- Low levels of IgM - High levels of IgA and IgE - Normal levels of IgG
89
What autoimmune condition is common even in immunodeficient patients
RA