Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

FMS > FMS Week 10: Primary Immunodeficiency > Flashcards

FMS Week 10: Primary Immunodeficiency Flashcards

1
Q

Main Characteristics of Primary Immunodeficiency Disease

3 Listed

A
  • Primary (congenital)
  • Group of highly variable diseases
  • Almost always a genetic defect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Primary Immunodeficiency Disease Primary (Congenital)

A
  • Mutation/defect is present at birth perinatally
  • Not caused by damage to the immune system (secondary)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Primary Immunodeficiency

A

Mutation/defect is present at birth

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

Secondary immunodeficiency

A

Not caused by damage to the Immune system

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

Primary Immunodeficiency highly variable disease

2 Listed

A
  • time of manifestation ranges from birth to never
  • Severity ranges from mild/no known symptoms to fatal
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Primary Immunodeficiency Disease is almost always a genetic defect because?

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

How many Primary Immunodeficiency Diseases are there?

A

>200 distinct Primary Immunodeficiency Diseases

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

Diagnosis of Primary Immunodeficiency Diseases

2 Listed

A
  • recurrent or severe infections are usually the first sign of a possible primary immunodeficiency disease
  • Infections at multiple sites, multiple pathogens (including normally avirulent)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Primary Immunodeficiency Diseases are associated with unexpected pathology such as

3 Listed

A
  • Autoimmune diseases
  • Cancer
  • Allergy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Primary Immunodeficiency Diseases: Defects of innate immunity

4 Listed

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

Primary Immunodeficiency Diseases: Defects of lymphocyte Maturation

5 Listed

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

Primary Immunodeficiency Diseases: Defects of lymphocyte Activation

4 Listed

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

Primary Immunodeficiency Diseases: Other genetic disease with lymphocyte abnormalities

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

Inheritance of Primary Immunodeficiency Diseases

2 Distinct Patterns

A
  • Autosomal Recessive Inheritance (requires 2 defective genes)
  • X-linked Recessive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Primary Immunodeficiency Diseases: Autosomal Recessive Inheritance Pattern

2 Listed

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

Primary Immunodeficiency Diseases: X-Linked Recessive Inheritance Pattern

4 Listed

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

Defects in Lymphocyte Maturation Disease Examples

5 Listed

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

Combines Immunodeficiency Syndromes occur in 1/? live births

A

1/58,000 live births

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

Mutations in genes whose products are crucial for the development and function of B and T cells may also affect…

A

NK cells

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

Disorders arising from disturbances in the development of B and T cells may also involve?

A

Natural Killer (NK) Cells

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

Primary Immunodeficiency Diseases can be “Severe” in that they

A

They lead to death from overwhelming infection, usually in the first year of life

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

Since 2010 90% of newborns in the U.S> are screened for?

A

SCID

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

SCID Patient Presentations

5 Listed

A
  • Severe infections
  • Lymphopenia
  • Chronic Diarrhea
  • Adverse reactions to live vaccines
  • recurrent fevers
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Treatment of Combined Immunodeficiency Syndromes

A

Hematopoietic cell transplantation (HCT)

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

Combined Immunodeficiency Syndromes Prognosis

A

Fatal in the first year of life if not treated, best prognosis is in patients receiving HCT before 3.5 months of age with no infections

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

T Cell Receptor Excision Circles are?

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

TRECs Properties

4 Listed

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Patients with SCID will not have mature T cells so they will not have _________

A

TRECs in the blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

X-Linked Severe Combined Immunodeficiency Disease: what type of mutation is most common?

A

99% of X-linked SCID are caused by γc Mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

X-linked SCID prognosis

A

Fatal in the first year or 2 of life if not treated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

X-linked SCID are symptomatic/asymptomatic at birth

A

Asymptomatic at birth and time of testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

X-linked SCID: undiagnosed patients present in the first year with?

5 Listed

A
  • Recurrent opportunistic infections
  • Chronic diarrhea
  • Thrush
  • Otitis media
  • Failure to thrive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

γc deficiency =

A

X-linked Severe Combined Immunodeficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

γc is shared among many?

A

Cytokine receptors

  • IL-2
  • IL-4
  • IL-7
  • IL-9
  • IL-15
  • IL-21
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

IL-7 is required for?

A

T cell development and differentiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

IL-7 is produced in the ________ and signals through the _________ receptor to induce _______________

A
  • Thymus
  • IL7R/γc
  • proliferation of pro-T cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

With γc deficiency, the effect on B cells is?

A
  • B cell number will be normal but serum Ig will be low because there are no CD4+ T cells to stimulate B cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Autosomal Severe Combined Immunodeficiency: mutations in nucleotide salvage pathway Percentages

A
  • ~30% of autosomal SCID are caused by mutations in the gene coding for adenosine deaminase (ADA) enzyme
  • 1% of all SCID is caused by a mutation in Purine Nucleotide Phosphorylase (PNP) enzyme
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

ADA and PNP are both involved in?

A

Converting toxic deoxyadenosine (a byproduct of breakdown and synthesis of DNA) to non-toxic byproducts that can be salvaged for DNA synthesis or removed as waste products

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Deficiency in ADA or PNP causes?

A

Build up of toxic deoxyadenosine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Treatment for ADA or PNP SCID

2 Listed

A
  • Hematopoietic Cell Transplant
  • Enzyme replacement therapy (weekly intramuscular injection)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

ADA AKA

A

Adenosine Deaminase Enzyme (ADA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

PNP AKA

A

Purine Nucleotide Phosphorylase (PNP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

ADA and PNP deficiency toxic buildup of deoxyadenosine causes

2 Listed

A
  • Decreased DNA synthesis
  • Decreased Lymphocytes
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

RAG1 and RAG2 are?

A

proteins that are involved in VDJ recombination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Without RAG1 and RAG2 functionality

3 Listed

A
  • There will be no B or T cells because the cells would not be able to make it past checkpoints early in development
  • Pro-Pre checkpoint
  • Pro B & T cells need to undergo VDJ recombination which involves RAG1 and RAG2 proteins
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

For Survival Pre-B cells require:

4 Listed

A
  • Successfully rearranged H chain
  • Association with surrogate light chains
  • Association with Ig-signaling molecules
  • Basal signaling
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Btk Deficiency: X-linked agammaglobulinemia

A

can’t get mature B cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

DiGeorge Syndrome caused by

2 Listed

A
  • deletion in chromosome 22q11.2
  • resulting in abnormal embryonic development of the pharyngeal pouch system
50
Q

Functional Defect in DiGeorge Syndrome

A

Rudimentary or absent thymus

51
Q

The consequence of DiGeorge Syndrome

2 Listed

A
  • Decreased T cells
  • Normal B cells but normal or reduced serum Ig (SCID)
52
Q

Clinical Aspects of DiGeorge

5 Listed

A
  • Rudimentary or absent thymus
  • Cardiac Anomalies
  • Hypocalcemia (from parathyroid hypoplasia)
  • Palatal defects
  • Gastrointestinal defects
53
Q

Treatment of DiGeorge Syndrome

A
  • Hematopoietic Cell Transplant (does not fully restore T cell repertoire but does provide adequate immune function)
54
Q

Prognosis of DiGeorge Syndrome

A

Median survival with transplant is 5 years (oldest survivors are in their 20s)

55
Q

Examples of defects of lymphocyte activation

5 Listed

A
  • Defects in TCR complex signaling: MHC Class II deficiency
  • Common Variable Immunodeficiency
  • AID mutations (autosomal hyper-IgM syndrome)
  • CD40 Ligand mutations (X-linked hyper-IgM syndrome)
  • Selective Ig isotype defects
56
Q

Common Variable Immunodeficiency is not a?

A

Not a single disease

57
Q

Common Variable Immunodeficiency Prevalance

58
Q

Common Variable Immunodeficiency is a Collection of?

A

Collection of hypogammaglobulinemia syndromes

59
Q

hypogammaglobulinemia syndromes are resulting from

A

many genetic defects

60
Q

Common Variable Immunodeficiency: Variable because?

5 Listed

A

Variable - heterogeneous clinical manifestations

  • Recurrent Infections
  • Chronic Lung Disease
  • Autoimmune Disorders
  • Gastrointestinal Disease
  • Susceptibility to lymphomas
61
Q

Common Variable Immunodeficiency Age of diagnosis

2 Listed

A
  • sometimes diagnosed in childhood, but more often after puberty (20-45 years is the most common age)
  • Often diagnosis is delayed (5-7 years after symptoms present)
62
Q

Common Variable Immunodeficiency: Specific Gene Defect

2 Listed

A
  • the specific molecular defect is known only for a small subset of patients
  • likely results from a number of different gene defects
63
Q

Common Variable Immunodeficiency: Consequence

A

impaired B cell differentiation with hypogammaglobulinemia

64
Q

Common Variable Immunodeficiency: Treatment

A

IVIG to replace low serum Ig

65
Q

Hyper IgM Syndromes prevalence

A

Rare: 1 / 1,000,000

66
Q

Hyper IgM Syndromes different mutations Examples

3 Listed

A
  • Activation-induced deaminase (AID)
  • CD40L
  • CD40
67
Q

AID Inheritance Pattern

A

Autosomal Recessive

68
Q

CD40L Inheritance Pattern

A

X-Linked Recessive

69
Q

CD40 Inheritance Pattern

A

Autosomal Recessive

70
Q

Hyper IgM Syndromes Functional Defect

2 Listed

A
  • Failure of IgM class switching and somatic mutation
  • Lack of memory B cells
71
Q

Hyper IgM Syndromes: Consequence

4 Listed

A
  • Recurrent pyogenic infections
  • neutropenia
  • elevate IgM with absent IgG, IgA, IgE
  • decreased B cells
72
Q

Hyper IgM Syndromes Treatment

3 Listed

A
  • CD40 and CD40L defects are more difficult to treat (T cell defects require HCT)
  • AID defects treated with IVIG
  • Antibiotic prophylaxis
73
Q

Hyper IgM Syndrome 2 AKA

74
Q

HIM2 AKA

A

Hyper IgM Syndrome 2

75
Q

Hyper IgM Syndrome 2 Inheritance pattern

A

Autosomal Recessive

76
Q

HIM2 mutation

A

Mutation in Activation Induced Deaminase (AID)

77
Q

HIM2 Mutation Consequence

A

Failure of IgM class switching and somatic mutation

78
Q

HIM2 Treatment

A

Because the defect is only B cells IVIG replacement and antibiotic prophylaxis is required

79
Q

HIM1 Inheritance Pattern

A

X-linked Recessive

80
Q

HIM13 Inheritance Pattern

A

Autosomal Recessive

81
Q

HIM1 Mutation

82
Q

HIM3 Mutation

83
Q

Pathology of HIM1 & HIM3

5 Listed

A
  • Weak B/T cell interactions
  • defective somatic mutation
  • Defective class switching
  • Defective T cell/macrophage interactions
  • Lack of cell-mediated immunity
84
Q

Chronic Granulomatous Disease caused by?

A

Mutations in phagocyte NADPH oxidase (a component of the phagocyte oxidase)

85
Q

Chronic Granulomatous Disease Inheritance Pattern

A

X-Linked Recessive

86
Q

Chronic Granulomatous Disease functional defect and Consequence

2 Listed

A
  • inability of phagocytes to destroy certain microbes (primarily fungal and bacterial pathogens)
  • Leads to chronic T cell stimulation of macrophages and granuloma infection
87
Q

Chronic Granulomatous Disease Treatment

3 Listed

A
  • Lifelong antibacterial and antifungal prophylaxis
  • early diagnosis of infection
  • aggressive management of infection complications
88
Q

Chronic Granulomatous Disease Prognosis

A

average patient survives to 40 years old

89
Q

Chediak-Higashi Syndrome Caused by?

A

Mutations in CHS1/LYST protein (a protein involved in regulating and trafficking of lysosomes in the cell)

90
Q

CHS1/LYST protein function and disease involvement

2 Listed

A
  • a protein involved in regulating and trafficking of lysosomes in the cell
  • Involved in Chediak-Higashi Syndrome
91
Q

Chediak-Higashi Syndrome Functional Defect and Consequence

2 Listed

A
  • Defective lysosomal function in neutrophils, macrophages and dendritic cells, and defective granule function in natural killer cells
  • Causes Recurrent bacterial infections
92
Q

Other clinical aspects of Chediak-Higashi Syndrome

3 Listed

A
  • oculocutaneous albinism
  • coagulation defects
  • progressive neurological deterioration
93
Q

Chediak-Higashi Syndrome Treatment

2 listed

A
  • Hematopoietic stem cell transplant (this does not alter neurological aspects of disease)
  • Prophylactic antibiotics
94
Q

Chediak-Higashi Syndrome Prognosis

2 Listed

A
  • Without the transplant, death from bacterial infections before 7 years of age
  • Severe and debilitating neurological deficits by 20 years of age
95
Q

LAD AKA

A

Leukocyte Adhesion Deficiencies

96
Q

Leukocyte Adhesion Deficiencies AKA

97
Q

Leukocyte Adhesion Deficiencies Inheritance Pattern

A

Autosomal Recessive

98
Q

Leukocyte Adhesion Deficiencies Causes

A

failure of neutrophil recruitment to the site of infection

99
Q

LAD-1 Pathology

2 Listed

A
  • Failure of neutrophil recruitment to site of infection
  • also deficient T cell/APC interactions
100
Q

LAD-1 Deficiency

A
  • ß2 integrins (CD18, LFA-1, Mac-1) deficiency
101
Q

LAD-2 Deficiency

A

E and P-selectin ligands (CD62) deficiency

102
Q

LAD-3 Deficiency

A

Kindlin-3 deficiency results in decreased integrin activation

103
Q

Complement Deficiencies predispose patients to…

2 Listed

A
  • to bacterial infections (especially Neisseria species)

And/Or

  • Systemic Lupus Erythematosus
104
Q

Complement Deficiencies: Patients lose the activity of…

A

The defective protein but also the functions of the proteins that follow the particular cascade

105
Q

Complement Deficiencies Deficiencies can be in?

A

Specific complement components or in the complement regulatory proteins

106
Q

Complement Deficiencies Inheritance Pattern

A

Most are Autosomal Recessive

107
Q

Complement Deficiencies: Homozygous deficiency

A

most will have complete deficiency of the complement component

108
Q

Complement Deficiencies: Heterozygous deficiency

A
  • Are generally asymptomatic
  • 50% normal complement activity
109
Q

Complement Deficiencies Treatment

2 listed

A
  • vigilance for early signs of serious infection, vaccination
  • possible antibiotic prophylaxis
110
Q

Wiskott-Aldrich Syndrome Caused by?

A

mutations in X-chromosome protein Wiskott-Aldrich Syndrome Protein (WASp) protein expressed exclusively in hematopoietic cells and is involved in actin cytoskeleton remodeling

111
Q

Wiskott-Aldrich Syndrome Functional defect and Consequence

3 Listed

A
  • defective signaling from the cell membrane to the cytoskeleton
  • impaired cell signaling in T and B cells
  • Defective polarization, motility, and phagocytosis in neutrophils in neutrophils and macrophages
112
Q

Wiskott-Aldrich Syndrome Other Clinical Aspects

7 Listed

A
  • Variable presentation based on specific mutation
  • Thrombocytopenia
  • bleeding (petechiae or prolonged bleeding from umbilical stump of circumcision)
  • sever infections
  • eczema or varying severity
  • autoimmune manifestations
  • malignancies (lymphoma and leukemia)
113
Q

Wiskott-Aldrich Syndrome Treatment

4 Listed

A
  • prophylactic antibodies
  • platelet transfusions
  • IVIG in patients with antibody deficiency
  • Hematopoietic transplant
114
Q

Wiskott-Aldrich Syndrome Prognosis

2 Listed

A
  • bleeding is the main cause of death
  • malignancies are often fatal
115
Q

Relative occurrence of primary immunodeficiency Diseases

116
Q

Key features that suggest primary immunodeficiency disease

3 Listed

A
  • Recurrent infections
  • Severe infections
  • infections with normally avirulent pathogens
119
Q
A

Common Variable Immunodeficiency

120
Q
A

Leukocyte Adhesion Deficiency

FMS (34 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions