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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?

A

HSCT

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
Q

What is the function of RAG1/RAG2?

A

Assist in V(D)J recombination.

Defective RAG1/RAG2 leads to defective expression of the pre-TCR and pre-BCR

26
Q

In RAG1/RAG2 deficiency, what is the typical presentation?

A

Presentation in infancy with recurrent infections with bacteria, viruses, and fungi

Opportunistic fungus Pneumocystis jiroveci

27
Q

What is Omenn Syndrome?

A

Partial function of RAG1/RAG2 causing leaky SCID.

It is characterized by erythroderma, splenomegaly, eosinophilia, and high IgE

28
Q

What clinical factor characterizes Artemis deficiency from the other SCIDs?

A

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
Q

Describe BTK agamma-globulinemia

A

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
Q

Describe Agamma-globulinemia

A

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
Q

Describe Common Variable Immune Deficiency (CVID)

A 
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
Q

Describe IgA deficiency

A 
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
Q

Describe IgG subclass deficiency

A 
B-CELL DEFICIENCY
Phenotype: T+, B+, NK+
Ab Panel: IgM+, IgG+, IgA+
Inheritance: Autosomal
Infections: Mostly asymptomatic
Vaccines: No restrictions
Treatment: Symptomatic
34
Q

Describe Hyper-IgM Syndrome (HIGM)

A 
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
Q

Describe Transient Hyper-IgM Syndrome

A 
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
Q

BTK Deficiency is caused by a defect in what?

A

Rearrangement of the Ig Heavy Chain genes

37
Q

Common Variable Immune deficiency is caused by what?

A

Mutations in receptors for B-cell growth factors

Mutations in costimulators (T-B collaboration)

38
Q

Patients with IgA deficiency often develop what other diseases?

A

Autoimmune diseases and allergies

39
Q

Hyper-IgM Syndrome can be caused by mutations in what gene?

A

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
Q

Describe Common Gamma Chain Deficiency

A 
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
Q

Describe IL-7R alpha chain deficiency

A 
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
Q

Describe CD3 deficiency

A 
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
Q

Describe MHC Class I deficiency (BLS I)

A 
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
Q

Describe MHC Class II Deficiency (BLS II)

A 
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
Q

Describe DiGeorge Syndrome

A 
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
Q

In Common Gamma Chain Deficiency, what is mutated?

A

Mutation in gene that encodes for lymphocyte janus kinase 3 (Jak3)

Jak3 is protein kinase associated with common gamma chain

47
Q

What interleukins are mediated by tyrosine kinase subunits?

A

IL-2, IL-4, IL-7, IL-9, and IL-15

48
Q

Common gamma chain deficiency causes a defect in what two signaling pathways?

A

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
Q

In IL-7R alpha chain deficiency, why is there low/absent expression of immunoglobulins despite the presence of B-cells?

A

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
Q

DiGeorge Syndrome results from a micro-deletion of what?

A

The 22q11.2 region of chromosome 22

51
Q

What is the classic triad of DiGeorge Syndrome?

A

Cardiac anomalies, hypocalcemia, and hypoplastic thymus

52
Q

CD3 deficiency involves mutations of what chains?

A

Delta, gamma, epsilon, or zeta chains

Defect in only one will cause disease

53
Q

In patients with CD3 deficiency, the common clinical manifestations are…

A

Failure to thrive, opportunistic infections, and chronic diarrhea

54
Q

Type I Bare Lymphocyte Syndrome is caused by mutations in what?

A

Mutations in TAP1 or TAP2, which transfer peptides to the ER

55
Q

In BLS 1, what cell type is deficient?

A

CD8+ T-cells are deficient, causing recurrent viral infections

Decrease in Class I MHC presentation

56
Q

In BLS II, what cell type is deficient?

A

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
Q

What are the clinical presentations of BLS II?

A

Recurrent respiratory, gastrointestinal, and urinary tract infections

Frequently lead to death in early childhood

SFM - Exam #2 (4 decks)

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