Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MHD V: Renal > 11.10: Immunodeficiency > Flashcards

11.10: Immunodeficiency Flashcards

1
Q

What does ID refer to in this lecture?

A

Immunodeficiency

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

How to predict what type of ID is occurring?

A
  • Specific defects lead to predictable disease

- Family history should be in HPI: very important

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

What should always be in your DD with dealing with and immunodeficient patient?

A
  1. Lymphoma

2. Autoimmune disease

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

What will you see in history of patient with a B cell defect?

A
  1. Recurrent sino pulmonary infections
  2. Septicemia from infection w/ bacteria w/ polysaccharide capsules
    * **Cannot make antibody for polysaccharide
  3. Staph, Strep, and Haem. predominate
  4. Susceptible to systemic and a typical CNS disease with enterovirus
  5. Manifests 3 - 6 months after birth
    - Once maternal Ig no longer protects baby
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Why does B cell defect lead to septicemia from infection w/ bacteria w/ polysaccharide capsules?

A

W/p B cells cannot make antibody for polysaccharide capsule

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

Why does B cell defect make you susceptible to systemic and a typical CNS disease with enterovirus?

A
  • W/o B cell enteroviruses cannot be localized to the GI tract where they belong
  • Disease will become systemic and move to CNS
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is recurrent sino pulmonary infections manifesting at 3 - 6 months indicative of?

A
  • B cell defect

- Once maternal Ig is no longer around to protect baby it begins to get sick

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

What type of infections does T cell defect lead to?

A

Organisms requiring T cell / mac to control:

  1. Listeria
  2. Fungi
  3. Protozoa
  4. Most virus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is necessary for CD8 control of infections?

A
  • T cells

- If do not have this cannot control virus

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

When does T cell defect manifest?

A

Day 1 of life

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

What is sickness from day 1 of life indicative of?

A

T cell deficiency

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

What is SCID?

A
  • Severe, Combined Immunodeficiency disease
  • Sick from birth
  • Defects in organ systems and white cell lines
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is sickness from birth with other generalized defects indicative of?

A

SCID

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

Question to ask to see if child truly does have recurrent infections?

A

Has child been hospitalized for infections

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

Are T or B cell disorders more susceptible to bacterial or viral infections?

A

T cell: Viral/fungal

B cell: bacterial

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

3 early branch points in DD for ID?

A
  1. Recurrent illness: hospitalization
  2. Viral or fungal infections
  3. CBC administration
  4. T cell defect: can ptn. mount response to skin testing?
  5. B cell defect: does kid have Ig?
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is ptn with no lymphocytes indicative of?

A

T cell defect

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

What is negative response to skin testing indicative of?

A

T cell defect

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

What is absence of Ig indicative of?

A

B cell defect

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

How to test for B cell function?

A
  • Serum protein electrophoresis w/ Ig level quantification
  • Perform titers if negative
  • Flow cytometry to measure exact defect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

How to test for T cell function?

A
  1. Lymphopenia on CBC: low T cells
  2. Flow cytometry to see what T cells they have
  3. Lymph node biopsy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Danger of lymph node biopsy?

A
  • Can lead to infection that will kill ptn.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is X linked Agammaglobulinemia?

A
  • Mutation in tyrosine signalling necessary for B cell development
  • Seen in males
  • ZERO Ig cells in serum
  • No B cells in marrow, blood, tissues
  • Only “pure” B cell defect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is no B cells in marrow, blood, tissues with zero Ig in serum indicative of?

A

Agammaglobulinemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

How do you treat Agammaglobulinemia?

A

IVIG monthly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Which disease can be treated with IVIG?

A

Agammaglobulinemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is X linked hyper IgM syndrome?

A
  • Mutation in CD40L / CD 145 (receptor on T cells)

- High IgM with low IgA/G as B cells are not prompted to isotype switch

28
Q

What is high IgM with low IgA/G indicative of?

A

X linked hyper IgM syndrome

29
Q

How do you treat X linked hyper IgM syndrome?

A

Stem cell transplant

30
Q

What is selective immunoglobulin “deficiency”?

A
  • IgG /M normal with absent IgA: IgM/G takeover function of IgA: no real clinical problem
  • Not associated with specific infections
  • Problem is some ptns develop IgG ANTI IgA antibodies
  • Can cause shock after RBC transfusions
31
Q

What is IgG /M normal with absent IgA indicative of?

A

Selective immunoglobulin “deficiency”

32
Q

What is danger in ptn. with selective immunoglobulin “deficiency”?

A
  • They can develop anti IgA antibodies since have no IgA

- Giving transfusion can cause shock since IgA is likely in transfused blood

33
Q

Signs associated with selective immunoglobulin “deficiency”?

A
  • Increased risk of allergies

- Increased risk of autoimmune disease

34
Q

What is EBV X Linked agammaglobulinemia indicative of?

A
  • Mutation in signaling regulator of CD8s
  • Mutation activated by EBV infection of B cells
  • Once T cells kill infected B cells. cannot be turned off
  • Can lead to death of ptn.
35
Q

What is EBV?

A
  • Mono virus

- Infects B cells causing to express EBV antigens signalling T cells to kill them

36
Q

What is CVID?

A

“Common variable Immunodeficiency”

  • Normal up to 2 - 4 yo
  • Slowly declining Ig levels eventually leading to B cell type infections
  • Progress to T cell type infections, then autoimmune diseases ending in lymphoma
  • *Caused by B cells not being able to become plasma cells
37
Q

How do diagnose CVID?

A
  • B cell infections followed by T cells
  • Normal / plentifull B cells in periphery
  • Lymph nodes with no Germinal centers
38
Q

How to treat CVID?

A
  1. IVIg works until enter T cell stage
  2. Stem cell transplant
  3. Surveillance for lymphomas
39
Q

What is thymic aplasia?

A

“22q11.2 deletion syndrome”

  • Patient lacks thymus
  • Sick from birth with fungal infection
  • Arises from structural mutation in 3rd/4th branchial pouches
  • **Always CV abnormalities: tetralogy of fallot or pulmonary stenosis
  • Absent parathyroid glands with symptomatic hypocalcemia
40
Q

What is tetralogy of Fallot?

A
  1. Pulmonary stenosis
  2. Overriding Aorta
  3. Ventricular septal defect
  4. RVH
41
Q

What is CV abnormalities with hypocalcemia and facial dysmorphism characteristic of?

A

Thymic aplasia

42
Q

How do diagnose thymic aplasia?

A
  1. No thymic shadow on chest film at birth
  2. Severe lymphopenia
  3. Normal Ig at birth
  4. 22Q11 Deletion
43
Q

What is ADA?

A

“Adenosine deaminase”

- Defect can cause SCID

44
Q

Signs of SCID?

A
  • Infections from birth

- Decrease TRECs

45
Q

How to treat SCID stemming from ADA deficiency?

A
  • If stem cell replacement is not viable, enzyme replacement therapy can work
46
Q

What is a TREC?

A
  • T cell Receptor Excision Circle
  • Formed during rearrangement of T cell receptor
  • Moves into cytoplasm to be detected by PCR
47
Q

What does it mean if TRECs are present?

A
  • Ptn. has thymus that is generating T cells

- Used in newborns to screen for SCID

48
Q

What is used in newborns to screen for SCID?

A

TREC analysis

49
Q

What is Wiskott Aldrich Syndrome?

Will be on test

A
  1. Eczema
  2. Thrombocytopenia
  3. Moderate T cell deficiency
  4. Decreased IgM with not polysaccharide Ig
  5. High incidence of autoimmune disease
  6. Females carr, males present
50
Q

What are the following indicative of?

  1. Eczema
  2. Thrombocytopenia:; BLEEDING
  3. Moderate T cell deficiency
  4. Decreased IgM with not polysaccharide Ig
  5. High incidence of autoimmune disease
  6. Females carr, BOYS present
A

Wiskott Aldrich Syndrome

51
Q

What is eczema and bleeding in a boy indicative of?

A

Wiskott Aldrich Syndrome

52
Q

What is Ataxia telangiectasia?

A
  • Early cerebellar dysfunction
  • Telangiectasia of eyes
  • Loss of DNA repair gene: EXTREMELY SENSITIVE TO RADIATION
  • Almost all develop leukemia or lymphoma
53
Q

What is telangiectasia?

A

Dilation of capillaries, causing to appear as small red or purple clusters, often spidery in appearance, on skin / surface of organ

54
Q

What is disease in which ptn. is extremely sensitive to radiation?

A

Ataxia telangiectasia

55
Q

What is Bare lymphocyte syndrome?

A
  • Defects in MHC I / II on cell membrane
  • I: can’t deal with virus
  • II: Can’t deal with TB
56
Q

Defects in MHC I / II on cell membrane?

A

Bare lymphocyte syndrome

57
Q

What is Job syndrome?

A

“Hyper IgE syndrome”

  • Eczema w/ recurrent T and B cell infection
  • High IgE with low Th17 function
  • High IL 4 and 13 levels
58
Q

What is the following indicative of?

  • Eczema w/ recurrent T and B cell infection
  • High IgE with low Th17 function
  • High IL 4 and 13 levels
A

Job syndrome, aka: “Hyper IgE syndrome”

59
Q

What does normal Ig, Neutrophil count and function hint at?

A

Defect in complement system

60
Q

What is Chediak Higashi syndrome?

A

PROBLEM WITH NEUTROPHILS

  • Albinism
  • Easy bleeding
  • Lymphomas
  • Normal T and B cells
  • Huge neutrophils with blue granules
61
Q

What is normal T/B cells, recurrent infection and huge neuts w/ blue granules often found in albinos indicative of?

A

Chediak Higashi

62
Q

What is Chronic granulomatous disease?

A
  • Mutation in NADPH respiratory burst system
  • Neuts can phagocytose by cant kill because of low H2O2
  • Frequent infections with Catalase plus orgs: staff and fungi
  • Neisserial infections seen
63
Q

What types of infections are seen in Chronic granulomatous disease?

A
  • Catalase positive organisms usually staff and fungi
  • Catalase destroys basal level of H202 in neuts so they cannot kill bugs
  • Basal level is sufficient for neuts to kill cat negative orgs
64
Q

What types of vaccines should not be used in ID ptn.?

A

Live

65
Q

How to treat B cell deficiency?

A

IVIg

MHD V: Renal (28 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions