Module 8: Immune Deficiency Disorders Flashcards

1
Q

5 categories of primary immune deficiencies

A
Cellular immune deficiencies
Humoral immune deficiencies
Combined immune deficiencies
Phagocytic deficiencies
Complement deficiencies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Lab tests for cellular immune deficiency

A

Peripheral lymphocyte count
T cell count and CD4:CD8 ratio
Delayed hypersensitivity skin testing (decreased or absent reaction)
Measurement of lymphokine production (decreased)
Lymph node biopsy (decreased size)

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

Lab tests for humoral immune deficiency

A

Immunoglobulin quantification and typing
Isohemagglutinin titers (Anti-A and Anti-B)
Antibody titers before and after immunization
B cell count (flow cyto)
Bone marrow and lymph node biopsies (absent or reduced follicles and germinal centres)

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

Peripheral lymphocyte count tests for which type of immune deficiency?

A

Cellular immune deficiency

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

T cell count and CD4:CD8 ratio tests for which type of immune deficiency?

A

Cellular immune deficiency

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

Delayed hypersensitivity skin testing tests for which type of immune deficiency? What would the reaction be if deficient?

A

Cellular immune deficiency

Decreased or absent reaction

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

Measurement of lymphokine production tests for which type of immune deficiency? What would the results show if deficient?

A

Decreased

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

Lymph node biopsy tests for which type of immune deficiency? What would the results show if deficient?

A

Cellular - decreased size

Humoral - absent or reduced follicles or germinal centres

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

Immunoglobulin quantification and typing tests for which type of immune deficiency?

A

Humoral immune deficiency

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

Isohemagglutinin titers (Anti-A and Anti-B) tests for which type of immune deficiency?

A

Humoral immune deficiency

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

Antibody titers before and after immunization tests for which type of immune deficiency?

A

Humoral immune deficiency

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

Bone marrow and lymph node biopsies tests for which type of immune deficiency? What would it show if deficient?

A

Humoral immune deficiency

Absent or reduced follicles or germinal centres

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

What is Thymic Hypoplasia (DiGeorge Anomaly)? What type of immune deficiency?

A

Cellular immune deficiency
Abnormal thymus and parathyroid development
Hypocalcemia due to lack of PTH

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

What are the lab findings in Thymic Hypoplasia (DiGeorge Anomaly)?

A

Decreased T cells
Lymphopenia
Ig levels normal or decreased
Patients requite CMV negative irradiated blood

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

CMV negative irradiated blood is required by patients with what disorder?

A

Thymic Hypoplasia (DiGeorge Anomaly)

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

What is Nezelof’s syndrome? What type of immune deficiency?

A

Cellular immune deficiency
Small thymus with abnormal morphology
Secondary lymphoid tissues also reduced in size
Parathyroid is normal

17
Q

What are the lab findings in Nezelof’s syndrome?

A

Decreased in total T cells

18
Q

What is X-linked agammaglobulinemia (Bruton’s)? What type of immune deficiency?

A

Humoral immune deficiency

Defect in B cell maturation due to missing enzyme (Bruton’s tyrosine kinase - Btk)

19
Q

What are the lab findings in X-linked agammaglobulinemia (Bruton’s)?

A

Circulating mature B cells are rare
IgG, IgA and IgM are decreased or absent
No antibody response to mitogen (antigen stimulation)

20
Q

What is selective IgA deficiency? What type of immune deficiency?

A

Humoral immune deficiency
Near or complete absence of serum and secretory IgA
May develop Anti-IgA if exposed to blood products - serious allergic/anaplylactic reactions

21
Q

What is Transient Hypogammaglobinemia of Infancy? What type of immune deficiency?

A

Humoral immune deficiency

Prolongation of the decline in maternal immunoglobulin

22
Q

What is severe combined immune deficiency (SCID)? What type of immune deficiency?

A

Combined cellular and humoral immunodeficiency
Failure of lymphoid stem cell development
Mutation in gene for several cytokine receptors
Mutation in adenosine deaminase enzyme

23
Q

What are the lab findings in severe combined immune deficiency (SCID)?

A

Decreased mature T cell percentage
Both T and B cells nonfunctional
Deficient NK cells
Ig levels very low

24
Q

What is Wiskott-Aldrich syndrome? What type of immune deficiency?

A

Inability to respond to polysaccaride antigens

25
Q

What are the lab findings in Wiskott-Aldrich syndrome?

A

Decreased number and function of T cells
Decreased B cells
Thrombocytopenia

26
Q

What is the therapy and treatment for Wiskott-Aldrich syndrome?

A

Therapy - platelet transfusions, gammaglobulin administration
Treatment - splenectomy, HSC transplant

27
Q

What is Ataxia Telangiectasia? What type of immune deficiency?

A

Combined cellular and humoral immunodeficiency
Defect in DNA repair
T cell deficiency
Disordered immunoglobulin synthesis

28
Q

What are the lab findings for Ataxia Telangiectasia?

A

Decreased TH cells

Decreased immunoglobulin

29
Q

What is Leukocyte Adhesion Defect (LAD)? What type of immune deficiency?

A

Phagocytic deficiency
Cannot adhere to endothelial cells
Cord stub does not heal properly

30
Q

What is chronic granulomatous disease? What type of immune deficiency?

A

Phagocytic deficiency

Impairment of the phagocytes ability to produce oxygen radicals and hydrogen

31
Q

What is the effect of C1qrs complement deficiency?

A

Lupus-like disease

32
Q

What is the effect of C4 complement deficiency?

A

Increased bacterial or viral infections as well as Lupus-like disease (due to inability to clear immune complexes)

33
Q

What is the effect of C2 complement deficiency?

A

Increased bacterial or viral infections as well as Lupus-like disease

34
Q

What is the effect of C3 complement deficiency?

A

Overwhelming infections

35
Q

What is the effect of C567 complement deficiency?

A

Neisseria infections

36
Q

What is the effect of C1 INH complement deficiency?

A

Hereditary angioneurotic edema

37
Q

What is the effect of H and I complement deficiency?

A

Recurrent bacterial infections