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SFM - Exam #2 > IMM - Congenital Immunodeficiencies > Flashcards

IMM - Congenital Immunodeficiencies Flashcards

1
Q

When diagnosing a PID, if the patient has recurrent sinopulmonary bacterial infections, what should you screen?

A

Humoral Immunity

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2
Q

When diagnosing a PID, if the patient has recurrent viral and/or fungal infections, what should you screen?

A

Cellular Immunity

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3
Q

When screening for PID, when a patient has recurrent skin abscesses and/or fungal infections, what should you screen?

A

Phagocyte defects

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4
Q

When screening for PID, when a patient has bacteremia or meningitis with encapsulated bacteria, what should you screen?

A

Complement Deficiency

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5
Q

What are the SIX lab tests used to screen for PID?

A
  1. CBC - T cell, B cell defects
  2. DTH skin test - T cell defects
  3. Serum IgG, IgM, and IgA - humoral immunodeficiency
  4. Ab testing of Ag from immunization - humoral immunodeficiency
  5. Hemolytic complement assay - complement deficiency
  6. Nitroblue tetrazolium test - phagocytic disorder
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6
Q

What is the immune phenotype of ADA deficiency?

A

T-, B-, NK-

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7
Q

What is the Ab panel for ADA deficiency?

A

IgM-, IgG-, IgA-

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8
Q

What is the inheritance pattern of ADA deficiency?

A

Autosomal

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9
Q

What type of infections are present with ADA deficiency?

A

Severe opportunistic infections

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10
Q

What types of vaccines should be avoided with ADA deficiency?

A

All live, attenuated vaccines should be avoided

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11
Q

What is the treatment for ADA deficiency?

A

HSCT

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12
Q

What is the immune phenotype of RAG1/RAG2 deficiency?

A

T-, B-, NK+

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13
Q

What is the Ab panel for RAG1/RAG2 deficiency?

A

IgM-, IgG-, IgA-

But, IgE will be high

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14
Q

What is the inheritance pattern of RAG1/RAG2 deficiency?

A

Autosomal

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15
Q

What type of infections are present with RAG1/RAG2 deficiency?

A

Severe opportunistic infections

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16
Q

What type of vaccines should be avoided with RAG1/RAG2 deficiency?

A

All live, attenuated vaccines should be avoided

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17
Q

What is the treatment of RAG1/RAG2 deficiency?

A

HSCT

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18
Q

Whaat is the immune phenotype of Artemis deficiency?

A

T-, B-, NK+

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19
Q

What is the Ab panel of Artemis deficiency?

A

IgM-, IgG-, IgA-

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20
Q

What is the inheritance pattern for Artemis deficiency?

A

Autosomal

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21
Q

What type of infections are present with Artemis deficiency?

A

Severe opportunistic infections

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22
Q

What type of vaccines should be avoided with Artemis deficiency?

A

All live, attenuated vaccines should be avoided

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23
Q

What is the treatment for Artemis deficiency?

24
Q

Adenosine Deaminase is essential for what functions?

A

ADA is important for metabolic function, especially in T-cell.

An ADA deficiency leads to a metabolic issue by accumulation of toxic metabolic byproducts like deoxyadenosine

25
What is the function of RAG1/RAG2?
Assist in V(D)J recombination. Defective RAG1/RAG2 leads to defective expression of the pre-TCR and pre-BCR
26
In RAG1/RAG2 deficiency, what is the typical presentation?
Presentation in infancy with recurrent infections with bacteria, viruses, and fungi Opportunistic fungus Pneumocystis jiroveci
27
What is Omenn Syndrome?
Partial function of RAG1/RAG2 causing leaky SCID. It is characterized by erythroderma, splenomegaly, eosinophilia, and high IgE
28
What clinical factor characterizes Artemis deficiency from the other SCIDs?
Artemis deficiency is a radioactive deficiency. NK cell levels are normal, just as they are in RAG1/RAG2 deficiency. The main clinical difference is radiosensitivity
29
Describe BTK agamma-globulinemia
B-CELL DEFICIENCY Immune Phenotype: T+, B-, NK+ Ab Panel: IgM-, IgG-, IgA- Inheritance: X-linked (typically present in males only) Infections: Recurrent bacterial infections Vaccines: NO live, attenuated vaccines Treatment: HSCT
30
Describe Agamma-globulinemia
B-CELL DEFICIENCY Immune Phenotype: T+, B-, NK+ Ab Panel: IgM-, IgG-, IgA- Inheritance: Autosomal (present in both males and females) Infections: Recurrent bacterial infections Vaccination: No live, attenuated vaccines Treatment: HSCT
31
Describe Common Variable Immune Deficiency (CVID)
``` B-CELL DEFICIENCY Phenotype: T+, B-, NK+ Ab Panel: low IgM, low IgG+, and IgA- Inheritance: N/A Infections: Recurrent bacterial infections Vaccines: No restrictions Treatment: Symptomatic ```
32
Describe IgA deficiency
``` B-CELL DEFICIENCY Phenotype: T+, B+, NK+ Ab Panel: IgM+, IgG+, IgA- Inheritance: Autosomal, but higher in males Infections: Mostly asymptomatic Vaccination: No restrictions Treatment: Symptomatic ```
33
Describe IgG subclass deficiency
``` B-CELL DEFICIENCY Phenotype: T+, B+, NK+ Ab Panel: IgM+, IgG+, IgA+ Inheritance: Autosomal Infections: Mostly asymptomatic Vaccines: No restrictions Treatment: Symptomatic ```
34
Describe Hyper-IgM Syndrome (HIGM)
``` B-CELL DEFICIENCY Phenotype: T+, B+, NK+ Ab Panel: IgM+, IgG-, IgA- Inheritance: X-linked and Autosomal Infections: Encapsulated opportunistic infections Vaccines: Polio not recommended Treatment: Symptomatic ```
35
Describe Transient Hyper-IgM Syndrome
``` B-CELL DEFICIENCY Phenotype: T+, B+/-, NK+ Ab Panel: IgM+, IgG-, IgA- Inheritance: N/A Infections: Encapsulated opportunistic infections Vaccines: Polio not recommended Treatment: Symptomatic ```
36
BTK Deficiency is caused by a defect in what?
Rearrangement of the Ig Heavy Chain genes
37
Common Variable Immune deficiency is caused by what?
Mutations in receptors for B-cell growth factors Mutations in costimulators (T-B collaboration)
38
Patients with IgA deficiency often develop what other diseases?
Autoimmune diseases and allergies
39
Hyper-IgM Syndrome can be caused by mutations in what gene?
CD40L gene Unable to bind to CD40 on B-cells to trigger class switching and somatic hypermutation, which is why IgM is high and other Ig classes are absent.
40
Describe Common Gamma Chain Deficiency
``` T-CELL DEFICIENCY Phenotype: T-, B+, NK- Ab Panel: Low IgM, IgG-, IgA- Inheritance: unknown Infections: Severe opportunistic infections Vaccines: No live, attenuated vaccines Treatment: HSCT ```
41
Describe IL-7R alpha chain deficiency
``` T-CELL DEFICIENCY Phenotype: T-, B+, NK+ Ab panel: IgM+, IgG-, IgA- Inheritance: Autosomal recessive Infections: Severe opportunistic infections Vaccines: No live, attenuated vaccines Treatment: HSCT ```
42
Describe CD3 deficiency
``` T-CELL DEFICIENCY Phenotype: T-, B+, NK+ Ab Panel: IgM+, IgG-, IgA- Inheritance: Autosomal recessive Infections: Recurrent viral infections Vaccines: No live, attenuated vaccines Treatment: HSCT ```
43
Describe MHC Class I deficiency (BLS I)
``` T-CELL DEFICIENCY Phenotype: CD8 low, NK- Ab Panel: IgM+, IgG+, IgA+ Inheritance: Autosomal recessive Infections: Recurrent viral infections Vaccines: No restrictions Treatment: Symptomatic ```
44
Describe MHC Class II Deficiency (BLS II)
``` T-CELL DEFICIENCY Phenotype: CD4 lymphopenia Ab Panel: IgM+, IgG-, IgA- Inheritance: Autosomal recessive Infections: Severe opportunistic infections Vaccines: No live, attenuated vaccines Treatment: HSCT ```
45
Describe DiGeorge Syndrome
``` T-CELL DEFICIENCY Phenotype: T-, B+, NK+ Ab panel: IgM+, low IgG, low IgA Inheritance: Autosomal DOMINANT Infections: Recurrent viral infections Vaccines: No restrictions Treatment: Symptomatic ```
46
In Common Gamma Chain Deficiency, what is mutated?
Mutation in gene that encodes for lymphocyte janus kinase 3 (Jak3) Jak3 is protein kinase associated with common gamma chain
47
What interleukins are mediated by tyrosine kinase subunits?
IL-2, IL-4, IL-7, IL-9, and IL-15
48
Common gamma chain deficiency causes a defect in what two signaling pathways?
IL-2R signaling, which is a key cytokine for T-cell proliferation IL-15R signaling, which is a key cytokine in NK cell proliferation
49
In IL-7R alpha chain deficiency, why is there low/absent expression of immunoglobulins despite the presence of B-cells?
IL-7 plays a key role in the early development of T-cells. Without properly developed T-cells, there is a lack of co-stimulatory signals on B-cells to class switch from IgM to IgG and IgA via T-cell costimulators
50
DiGeorge Syndrome results from a micro-deletion of what?
The 22q11.2 region of chromosome 22
51
What is the classic triad of DiGeorge Syndrome?
Cardiac anomalies, hypocalcemia, and hypoplastic thymus
52
CD3 deficiency involves mutations of what chains?
Delta, gamma, epsilon, or zeta chains Defect in only one will cause disease
53
In patients with CD3 deficiency, the common clinical manifestations are...
Failure to thrive, opportunistic infections, and chronic diarrhea
54
Type I Bare Lymphocyte Syndrome is caused by mutations in what?
Mutations in TAP1 or TAP2, which transfer peptides to the ER
55
In BLS 1, what cell type is deficient?
CD8+ T-cells are deficient, causing recurrent viral infections Decrease in Class I MHC presentation
56
In BLS II, what cell type is deficient?
CD4+ T-cells are deficient. Characterized by the lack of MHC Class II on cells, therefore APCs are not able to activate CD4+ T-cells
57
What are the clinical presentations of BLS II?
Recurrent respiratory, gastrointestinal, and urinary tract infections Frequently lead to death in early childhood

SFM - Exam #2 (4 decks)

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