Brainscape's Knowledge GenomeTM

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


See full index

SFM Final > PIDs > Flashcards

PIDs Flashcards

1
Q

T/F. PIDs are detectable in newborns.

A

False. PIDs manifest in the first years of life when maternal IgG disappears after 6 months. Prior to that, not detectable.

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

What are the overall categories of PIDs in innate immunity?

A

Deficiencies in phagocytosis

Deficiencies in complement

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

What are the overall categories of PIDs in adaptive immunity?

A

Deficiencies in Abs (B cells)
Deficiencies of T cells
Combined deficiencies of T and B cells

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

If there are recurrent sinopulmonary bacterial infections, what PID type should be tested for?

A

Screen humoral immunity

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

If there are recurrent viral and/or fungal infections, what PID type should be tested for?

A

Screen cellular immunity

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

If there are recurrent skin abscesses and/or fungal infections, what PID type should be tested for?

A

Screen for phagocyte defect

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

If there are recurrent bacteremia or meningitis with encapsulated bacteria, what PID type should be tested for?

A

Screen for complement deficiency

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

This lab test screens for T cells, B cells, T/B cell defects.

A

Differential count of blood cells

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

This lab test screens for T cell defects.

A

DTH skin test

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

This lab test screens for humoral immunodeficiency by looking for a decrease in any or all immunoglobulins.

A

Serum IgG, IgM, and IgA

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

This lab test screens for humoral immunodeficiency by looking for a decrease of absent Ab response to vaccination.

A

Ab testing to specific Ag after immunization

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

This lab test screens for complement deficiency.

A

Total hemolytic complement assay

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

This lab test screens for phagocytic disorder.

A

Nitroblue tetrazolium test

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

What is a treatment for SCIDs?

A

HSCT

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

This SCID is a deficiency in the enzyme that converts toxic for lymphocytes deoxyadenosine into deoxyinosine, which is not harmful. Without the enzyme, deoxyadenosine stays intact.

A

Adenosine-deaminase deficiency

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

What is the immunophenotype for adenosine-deaminase deficiency?

A

T- B- NK-

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

This SCID is a deficiency in the gene-product for an enzyme in VDJ recombination and serves to repair DS breaks.

A

Artemis gene-product deficiency

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

What is the immunophenotype for artemis gene-product deficiency and RAG1/RAG2 deficiency?

A

T- B- NK+

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

What are SCIDs typically associated with?

A

Severe lymphopenia

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

T/F. SCIDs should avoid all live viral vaccines.

A

True (No B or T cell able to fight it off)

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

ADA deficiency is an autosomal ________ disorder and is essential for the metabolic function of various cells, especially T cells.

A

Recessive

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

ADA deficiency has (LOW/NORMAL) levels of IgG, IgA, and IgM.

A

Low

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

This type of SCID leads to an accumulation of intracellular deoxyguanosine triphosphate (dGTP). This metabolite is toxic to lymphocytes, leading to a decrease in peripheral T cells, but B cells are normal.

A

Purine Nucleoside Phosphorylase (PNP) deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

PNP deficiency is a rare autosomal _________ disorder. The onset can occur during infancy or later in life, a milder form.

A

Recessive

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

PNP deficiency has (LOW/NORMAL) levels of IgG, IgA, and IgM.

A

Normal

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

Mutations in the gene for Artemis cause a rare form of autosomal _________ radiosensitive SCID. Presentation occurs in infancy with diarrhea, candidiasis, and infections with opportunistic fungi Pneumocystis jiroveci (same in RAG1/RAG2 deficiency).

A

Recessive

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

What is the immunophenotype for PNP deficiency?

A

T- B+ NK +/-

28
Q

In artemis deficiency, T and B cells numbers are _______ but NK cell numbers are _______.

A

Absent

Normal

29
Q

In artemis deficiency, there are (LOW/NORMAL) levels of IgG, IgA, and IgM.

A

Low

30
Q

RAG1 or RAG2 deficiency is a rare form of autosomal _________ disorder causing SCID. Cause impaired VDJ recombination and this leads to defective expression of the pre-TCR and pre-BCR.

A

Recessive

31
Q

A leaky RAG1/RAG2 defect allows for partial function of RAG1/RAG2 which can give rise to an atypical form of SCID known as…

A

Omenn syndrome

***Characterized by severe erythroderma, splenomegaly, eosinophilia, and high IgE

32
Q

Janus kinase 3 (Jak3) deficiency is a SCID caused by mutation in the gene that encodes for it. It is an inherited autosomal ________ trait that affects boys and girls equally.

A

Recessive

33
Q

Jak3 deficiency causes defects in ______ receptor signaling.

A

IL-2

34
Q

Jak3 deficiency has ______ ______ levels of IgG, IgA, and IgM.

A

Very low

35
Q

What is the immunophenotype of Jak3 deficiency?

A

T- B+ NK-

36
Q

This is most commonly inherited as an X-linked trait, but autosomal recessive forms also exist. Early B cell development is arrested at the pre-B cell stage. Circulating B cells are usually absent or present in very low numbers.

A

Agammaglobulinemia

37
Q

This disorder is a mutation in tyrosine kinase. It is X-linked (occurs in males) and caused by a defect in rearrangement of the Ig heavy chain genes.

A

X-linked Btk Kinase deficiency

38
Q

X-linked Btk kinase deficiency has ______ IgG, IgA, and IgM.

A

No

39
Q

What is the immunophenotype of X-linked Btk kinase deficiency?

A

B- T+ NK+

40
Q

This deficiency is usually asymptomatic but may be associated with recurrent viral/bacterial infections, frequently involving the respiratory tract. Caused by defects in several genes.

A

Isolated IgG subclass deficiencies

41
Q

What is the immunophenotype for isolated IgG subclass deficiencies?

A

B+ T+ NK+

42
Q

What immunoglobulin levels are present in isolated IgG subclass deficiencies?

A

Some IgG subclasses low

Normal IgM, IgA, IgE

43
Q

IgA deficiency (normal IgG and IgM) is higher in male patients. Most present with recurrent infections, typically with _________ bacteria. Most patients are asymptomatic.

A

Encapsulated

44
Q

Patients with IgA deficiency often develop ________ diseases and ________.

A

Autoimmune

Allergy

45
Q

Patients with undetectable IgA levels may have serum anti-IgA ______ which has been linked to the development of non-______ mediated anaphylaxis in response to an IV Ig transfusion.

A

IgG

IgE

46
Q

This disease is a classic example of T-cell deficiency. Most cases result from a micro deletion of 22q11.2 region. Classic triad includes cardiac anomalies, hypocalcemia, and hypoplastic thymus leading to T cell immune dysfunction.

A

DiGeorge Syndrome (DGS)

47
Q

DGS has (LOW/NORMAL) IgG, IgA, and IgM.

A

Normal

48
Q

What is the immunophenotype of DGS?

A

T- B+ NK+

49
Q

T/F. Live viral vaccines are generally give to patients of DGS that have a CD8 T cell count >300 cells/mm3.

A

True

50
Q

These are a group of disease characterized by impaired Ig class switching and somatic hypermutation. These patients have normal numbers of peripheral B cells, but low numbers of CD27+ memory B cells. Treatment is HSCT.

A

Hyper IgM Syndromes (HIGM)

51
Q

HIGM have high ______, and low IgG and IgA.

A

IgG

52
Q

What is the immunophenotype of HIGM?

A

B+ T+ NK+

53
Q

These types of HIGM is due to a mutation in the CD40L gene and CD40. Normally, this triggers terminal differentiation of B cells associated with class switching and somatic hypermutation.

A

X-linked CD40L deficiency (male only – 2/3)

Autosomal CD40 deficiency (female and male – 1/3)

54
Q

Maternal IgG in the infant disappears after birth in 6 months with a half-life of 25-30 days. Intrinsic IgG production usually begins immediately after birth. In this disease, intrinsic Ig production is delayed for up to 36 months. Results in low IgG and IgA, but IgM may be low or normal.

A

Transient Hypogammaglobulinemia of Infancy

55
Q

What is the immunophenotype of transient hypogammaglobulinemia of infancy?

A

B+ T+ NK+

56
Q

These are a heterogenous group of diseases associated with hypogammaglobulinemia. There are mutations in receptors for B cell growth factors and costimulators (T-B collaboration). It is autosomal (males and females affected equally).

A

Common variable immune deficiency (CVID)

57
Q

In CVID, the number of circulating B cells is reduced or normal. Diagnosed based on a history of recurrent pyogenic _________ infections.

A

Sinopulmonary

58
Q

What is the immunophenotype of CVID?

A

B+/- T+ NK+

59
Q

This is the most common SCID an is X-linked recessive. It is a deficiency in a chain shared by T cell growth factor receptor (IL-2Ry) and other growth factor receptors. There are no functional B cells since T cells are unable to “help”.

A

Common gamma chain deficiency

***Very low IgG, IgA, and IgM

60
Q

What is the immunophentoype for common gamma chain deficiency?

A

T- B+ NK-

61
Q

This deficiency is related to IL-7, because it plays a key role in early T cell development. The Ig levels are low to absent despite the presence of B cells due to absence of T cell co-stimulatory signaling.

A

IL-7R alpha chain deficiency

62
Q

What is the immunophenotype for IL-7R alpha chain deficiency?

A

T- B+ NK+

63
Q

This is a rare autosomal recessive genetic disorder causing an HLA class II-negative SCID. There is no MHC class II expression on professional APCs that causes a deficiency in CD4+ T cells.

A

Bare Lymphocyte Syndrome Type 2 (BLS II)

T+ B+ NK-

64
Q

In BLS II, the genes for MHC class II on chromosome 6 are intact but there are mutations in genes that encode for _______ _______ that normally regulate the expression of MHC II genes.

A

Transcription factors

65
Q

BLS II has variable hypogammaglobulinaemia, mainly ______ and ______.

A

IgA

IgG2

66
Q

MHC Class I deficiency is caused by a mutation in ______ molecules to transfer peptides to ER. CD8+ cells are deficient that causes recurring viral infections. CD4+ cells are normal. Normal Ab production. Normal DTH (delayed typer hypersensitivity).

A

TAP1

67
Q

What is the immunophenotype of MHC Class I deficiency?

A

T+ B+ NK-

SFM Final (3 decks)

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