Immunodeficiency Diseases and Autoimmune Disorders II Flashcards Preview

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Flashcards in Immunodeficiency Diseases and Autoimmune Disorders II Deck (21)
1

What is the clinical presentation associated with X-linked Bruton's agammaglobulinemia?

Recurrent bacterial infections after 6 months of age (when maternal IgG has declined) due to opsonization defect (p.206)

2

What is the clinical presentation associated with Selective IgA deficiency?

Majority of patients are asymptomatic. Sinopulmonary infections, GI infections, autoimmune disease may be present. Patients experience anaphylaxis to IgA containing blood products (p.206)

3

What is the clinical presentation associated with Common variable immunodeficiency (CVID)?

Can be acquired in 20s-30s. Causes increased risk of autoimmune disease, lymphoma, and sinopulmonary infections (p.206)

4

What findings are associated with X-linked agammaglobulinemia?

Normal proB cells with decreased maturation of B cells and decreased number of B cells. Decreased number of immunoglobulins of all classes (p.206)

5

What findings are associated with selective IgA deficiency?

IgA < 7 mg/dL with normal IgG, IgM, and IgG vaccine titers (p.206)

6

What findings are associated with common variable immunodeficiency (CVID)?

Normal number of B cells with decreased plasma cells and immunoglobulin (p.206)

7

What test may be read as a false positive in patients with selective IgA deficiency?

False positive b-HCG test may be present due to presence of heterophile antibody (p.206)

8

What defect is associated with Thymic aplasia (DiGeorge syndrome)?

22q11 deletion and failure to develop the 3rd and 4th pharyngeal pouches (p.206)

9

What defect is associated with IL-12 receptor deficiency?

Decreased Th1 response (p.206)

10

What defect is associated with Hyper IgE syndrome (Job's syndrome)?

Th1 cells fail to produce IFN-y which makes neutrophils unable to respond to chemotactic stimuli (p.206)

11

What defect is associated with chronic mucocutaneous candidiasis?

T cell dysfunction (p.206)

12

What is the clinical presentation associated with Thymic aplasia (DiGeorge syndrome)?

Tetany (hypocalcemia), recurrent viral/fungal infections (T cell deficiency); congenital heart defects, great vessel defects (p.206)

13

What is the clinical presentation associated with IL-12 receptor deficiency?

Disseminated mycobacterial infections (p.206)

14

What is the clinical presentation associated with Hyper IgE syndrome (Job's syndrome)?

Coarse facies, cold (noninflammed) staphylococcal abcesses, retained primary teeth, increased IgE, dermatologic problems (eczema) (acronym- FATED) (p.206)

15

What is the clinical presentation associated with Chronic mucocutaneous candidiasis)?

Candida albicans infections of skin and mucous membranes (p.206)

16

What findings are associated with thymic aplasia (DiGeorge)?

Thymus and parathyroids fail to develop causing decreased numbers of T cells, PTH, and Ca2+. An absent thymic shadow is present on xray (p.206)

17

What findings are associated with IL-12 receptor deficiency?

Decreased IFN-y (p.206)

18

What findings are associated with Hyper IgE syndrome (Job's syndrome)?

Increased IgE (p.206)

19

Name four conditions which are associated with both B and T cell dysfunction.

SCID, Ataxia-telangiectasia, Hyper IgM syndrome, Wiskott-Aldrich syndrome (p.207)

20

Name three conditions that are associated with phagocyte dysfunction.

Leukocyte adhesion deficiency (type I), Ch̩diak-Higashi syndrome, Chronic granulomatous disease (p.207)

21

What defect is associated with SCID?

Most commonly a defective IL-12 receptor (X linked) or adenosine deaminase deficiency (p.207)