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Robbins Pathology MOD1 (Chptr 1-6) > Chapter 6- Transplants, Immunodeficiency > Flashcards

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
Q

What are common non immuno related symptoms seen with Chediak higashi syndrome

A
  • Albinism (abnormal melanocytes)
  • Nerve defects (abnormal nerves)
  • Bleeding disorders (abnormal platelets)
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26
Q

What are the clinical presentations of Ataxia Telangiectasia

A

Abnormal gait (ataxia), vascular malformations (telangiectases), neuro defects, increased tumors, and immunodeficiency

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27
Q

What protein is commonly mutated in X linked lymphoproliferative syndrome

A

SLAM associated protein (SAP)

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28
Q

Where is the location of WASP

A

Xp11.23

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29
Q

Leukocyte adhesion deficiency Type 1 and 2 lead to recurrent infections due to

A

Inadequate granulocyte function

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30
Q

At what age does X linked agammaglobulinemia become appearant and what are the signs

A

6 months after birth, and begins with recurrent bacterial infections

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31
Q

What about the donor APCs in direct rejection allow for T cell activation

A

Express high levels of MHC1,2 and costimulatory molecules

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32
Q

What is the most common complement deficiency

A

C2

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33
Q

Deficiencies in the alternative pathway proteins properdin and factor D are assocaited with which infection

A

Recurrent pyogenic infections

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34
Q

X linked agammaglobulinemia is characterized by what

A

Failure of B cell precursors to develop into mature B cells

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35
Q

What is the defective gene product in ataxia telangiectasia

A

ataxia telangiectasia mutated (ATM)

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36
Q

What percentage of X linked lymphoproliferative syndrome is associated with a mutation in SAP

A

80%

37
Q

Autosomal recessive SCID is caused by a defect in what

A

Adenosine deaminase (ADA)

38
Q

How long after transplantation is the acute cellular rejection seen

A

Within months

39
Q

paraxysomal nocturnal hemoglobinuria is marked by deficiencies of

A

Complement regulatory factors

40
Q

What is the location of gene defect in ataxia telangiectasia

A

Chromosome 11

41
Q

What is the genetic correlation with Chediak highashi syndrome

A

Autosomal recessive

42
Q

How do genetics play a role in X-linked SCID

A

More common in makes than females

43
Q

Gene therapy to fix X linked SCID is associated with which condition

A

T cel lymphoblastic leukemia (20% of pts)

44
Q

What is the state of the APC in direct rejection

A

Donors APC present in the graft and activate host cells

45
Q

What is the most common X linked variant of chronic granulomatous disease

A

The membrane bound component gp91phox

46
Q

Patients with hyper IgM syndrome have defects in which products

A

Loss of function mutation in CD40

Loss of function mutation in AID

47
Q

How do genetics cause C1q inhibatory defects

A

Autosomal dominant

48
Q

Are CTLs present in the indirect rejection

A

No

49
Q

What is the most common autosomal recessive defect in chronic granulomatous disease

A

Cytoplasmic components p47phox and p67phox

50
Q

What is the cause of DiGeorge’s

A

22q11 deletion syndrome

51
Q

Acute antibody mediated rejection commonly sees what being deposited

A

C4d

52
Q

What other conditions are seen with hyper IgM syndrome

A

Autoimmune hemolytic anemia, thrombocytopenia, and neutropenia

53
Q

What is the mechanism of action for tacrolimus

A

Aka FK506, which is similar to cyclosporine and inhibits phosphatase calcineurin, which is required for NFAT activation

54
Q

Hyper IgM syndrome are the result of a mutation in which chromosome area

A

Xq26

55
Q

What are the clinical presentations of DiGeorge’s syndrome

A

Loss of T cell immunity, Tetany, defects of heart and great vessels

56
Q

Which type of rejection is most similar to pathogen recognition

A

Indirect, since it is the host MHC presenting the donor antigens

57
Q

Why can CTLs not kill donor tissue in the indirect pathway

A

CTLs recognize the graft antigens presented by the host’s APC, but can not recognize the graft tissue directly

58
Q

What are the main defects in ataxia telangiectasia

A

Defective production of isotype switching antibodies IgG2 and IgA

59
Q

What is the very common pathogen in HSC transplanted hosts

A

Cytomegalovirus, which induces pneumonitis

60
Q

Defects in TLR3 leads to increased rates of which infection

A

Herpes simplex encephalitis

61
Q

What are the clinical presentations of chronic granulomatous disease

A

Defects in killing bacteria and persistent recurring bacterial infections. Usually lead to granulomas

62
Q

Defects in MyD88 is assocaited with increased infections of

A

Bacterial pneumonia

63
Q

Digeorge syndrome is caused by the lack of development of what

A

3rd and fourth pharyngeal arch

64
Q

What are the levels of CD19 and Ig receptors in patients with X linked agammaglobulinemia

A

CD19 levels are normal, but the Ig levels are low

65
Q

What can not be given as a vaccine to kids with X linked agammaglobulinemia

A

Live poliovirus vaccine

66
Q

Patients with isolated IgA deficiency also commonly are deficient in which antibody

A

IgG4 and IgG2

67
Q

What is the effect of cyclosporine

A

Immunosuppressive drug that is nephrotoxic, so can cause damage

68
Q

isolated IgA deficiency can be acquired via which infections

A

Toxoplasmosis, measles, or other viral infections

69
Q

What are the three immunosupressor drugs being used

A

1) Steroids
2) Mycophenolate mofetil
3) Tacrolimus

70
Q

What are the three common bacterial infections in X linked agammaglobulinemia

A

1) Haemophilus influenza’s
2) Streptococcus pneumoniae
3) Staphylococcus aureus

71
Q

What are the clinical presentations of a patient undergoing acute GVHD

A

Damage to bile ducts, leading to jaundice, and mucosal ulceration leading to blood stool

72
Q

What does hyperacute rejection show

A

Platelet and fibrin thrombin, neutrophil infiltrate, ischemic injury

73
Q

Deficiency of C1 inhibator leads to which condition

A

Hereditary angioeema

74
Q

Are allograft rejections more or less powerful than microbe reactions

A

More powerful due to higher frequency of T cells that recognize donor tissue as compared to microbe antigens

75
Q

One of the most frequent infections from transplants is

A

Polyoma virus

76
Q

X linked SCID is associated with a defect in what

A

Mutations in the common gamma chain subunit of cytokine receptors

77
Q

What are the characteristics of Wiskott-Aldrich syndrome

A

Thrombocytopenia, eczema, recurrent infections

78
Q

In antibody mediated rejection of an organ, what seems to be the initial target

A

Graft vasculature

79
Q

What is the genetic component of Ataxia telangiectasia

A

X linked

80
Q

What is the defective enzyme in X linked agammaglobulinemia

A

Briton tyrosine kinase (Btk)

81
Q

What are the common viral infections associated with X linked agammaglobulinemia

A

-Enteroviruses (echovirus, poliovirus, coxsackievirus)

82
Q

The condition of X linked lymphoproliferative syndrome is characterized by the inabilty to clear which infection

A

EBV,

83
Q

Patients with Leukocyte deficiency type 1 have defects in what

A

Beta chain of integrins LFA-1 and Mac-1 (aka CD11/18)

84
Q

Patients with hyper IgM syndrome are particularly prone to which pathogen

A

Pneumocystis jiroveci

85
Q

Infants with SCID present with which conditions

A

Thrush, extensive diaper rash, failure to thrive.

86
Q

Wha type of reaction is the indirect pathway rejection of organs

A

Delayed hypersensitivity reaction, but no CTLs

87
Q

During the acute cellular rejection of a transplant organ, what is doing the damage

A

Increased permeability and accumulation of mononuclear cells, leading to activation and damage via macrophages

88
Q

What are the Ig levels in Wiskott-Aldrich syndrome

A
  • Low levels of IgM
  • High levels of IgA and IgE
  • Normal levels of IgG
89
Q

What autoimmune condition is common even in immunodeficient patients

A

RA

Robbins Pathology MOD1 (Chptr 1-6) (10 decks)

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