2 path immune disorders Flashcards

(55 cards)

0
Q

Mutated CD40L

A

X linked hyper IgM syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

CD40 mutated

A

Autosomal recessive hyper IgM syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Low IgG

A

Common variable immunodeficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Toxoplasmosis infection makes you prone to

A

Isolated IgA deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Can’t eliminate EBV

A

X linked lymphoproliferative disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Mutated SLAM associated protein

A

X linked lymphoproliferative disorder

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Th can’t make IFNg

A

Job’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Neutrophils can’t respond to chemotactic stimuli

A

Job’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

High IgE

A

Job’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Mutated WASP protein

A

Wiskott Aldrich

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What disease puts you at a greater risk for B cell non Hodgkin’s lymphoma

A

Wiskott-Aldrich syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Spider angiomas occur in

A

Ataxia telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Abnormal chromosome 11

A

Ataxia telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Mutated gamma chain of cytokines receptor

A

X linked SCID

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Adenosine deaminasea (ADA) deficiency

A

Autosomal recessive SCID

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Abnormal gene encoding for LYST (causing microtubule defects)

A

Chediak-Higashi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Negative NBT

A

Chronic granulomatous disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Acquired amyloidosis

A

AL amyloid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Aβ is in (other than Alzheimer’s)

A

Cerebral amyloid angiopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

TTR overproduced and deposited in heart

A

Systemic senile amyloidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

TTR deposited in nerves

A

Familial amyloidotic neuropathies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Long term hemodialysis for end stage renal disease causes

A

β2 micro globulin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Fever and joint inflammation

A

Familial Mediterranean fever

23
Q

Familial Mediterranean fever - what type of amyloid

24
Amyloidosis that is AR
Familial Mediterranean fever
25
Amyloidosis that is AD
Familial amyloidotic neuropathies
26
3 organs most affected by amyloidosis
Kidney Heart GI
27
Congo red and apple green birefringence test for
Amyloidosis
28
What does amyloidosis look like under EM
β pleated sheets
29
4 places you can biopsy for amyloidosis
Kidney Rectal Gingival Abdominal fat pad
30
Aβ is derived from
APP
31
Deficiency in selectin
Type 2 leukocyte adhesion deficiency
32
Deficient integrin
Type 1 leukocyte adhesion deficiency
33
Omphalitis
Leukocyte adhesion deficiencies
34
Delayed umbilical cord separation
Leukocyte adhesion deficiency
35
Large granules in neutrophils
Chediak higashi
36
Mutated NADPH oxidase
Chronic granulomatous disease
37
Thrush
SCID
38
Affected IL mediated T cell and NK cell survival and prolif
X linked SCID
39
Toxicity to developing lymphocytes
AR SCID
40
No T or B cells
SCID
41
No B cells
Briton agammaglobulinemia
42
No light chain rearrangements so only pre B cells
Bruton agammaglobulinemia
43
Small germinal centers, no tonsils or lymph nodes
Bruton agammaglobulinemia
44
Prone to schizophrenia and ADHD
DiGeorge
45
Small LN para cortex and splenic PALS
DiGeorge
46
No T cells
DiGeorge
47
Megakaryocytes don't make platelets
Wiskott Aldrich
48
Loss of CD43 on lymphocytes and platelets
Wiskott Aldrich
49
Prone to malignancies and sensitive to radiation
Ataxia telangiectasia
50
Males = females
Common variable immunodeficiency
51
Prone to pneumocystic jiroveci infection
X linked hyper IgM syndrome
52
More common in Europeans
Isolated IgA deficiency
53
Traditional causes of amyloidosis
TB Brochiectasis Chronic osteomyelitis
54
H&E of amyloidosis
Pink hyaline