immune deficiencies

Question 1

B cell disorders are assoc with (3)

Answer 1

• pyogenic infections
• enteric bacteria
• viral infections

Question 2

T cell disorders are assoc with (4)

Answer 2

• viral infections
• other intracellular organisms
• opportunistic infections
• virus-related malignancies

Question 3

X-linked SCID

Answer 3

defect in Yc causing defective development of pro-T cell from CLP

Question 4

autosomal SCID

Answer 4

defect in adenosine deaminase gene (ADA)

Question 5

clinical sx of SCID (3)

Answer 5

recurrent and severe infections
chronic diarrhea
FTT

Question 6

diagnostic criteria for SCID

Answer 6

• low T cells = abs lymphs under 2500, T cells compose under 20% total lymphs, mitogen response less than 10% expected
• circulating maternal CD45RO cells

Question 7

what causes Bruton’s agammaglobulinemia?

Answer 7

mutation in bruton tyrosine kinase gene

Question 8

what is the function of briton tyrosine kinase gene?

Answer 8

promotes pre-B cell expansion

Question 9

labs in Bruton’s agammaglobulinemia

Answer 9

IgG, IgM and IgA all 2 SD below normal

less than 2% CD19+ Bcells

Question 10

sx of Bruton’s agammaglobulinemia

Answer 10

bacterial infections (encapsulated), severe enterovirus infection

Question 11

40% of pts with Bruton’s agammaglobulinemia have-

Answer 11

a relative with the disease

Question 12

treatment for Bruton’s agammaglobulinemia

Answer 12

Ig replacement therapy

Question 13

classic triad of digeorge syndome

Answer 13

• cardiac anomalies
• thymic hypoplasia
• hypocalcemia

Question 14

deletion assoc with digeorge syndrome

Answer 14

22q11.2

Question 15

disorders that involve defects in lymphocyte maturation (3)

Answer 15

• digeorge syndrome
• SCID
• Bruton’s agammaglobulinemia

Question 16

disorders that involve defects in lymphocyte activation or function

Answer 16

• CVID
• x-linked hyper-IgM syndrome
• bare lymphocyte syndrome

Question 17

what defines CVID?

Answer 17

impaired B cell differentiation leading to defective Ig production

Question 18

CVID present at what age?

Answer 18

early adulthood

Question 19

labs in CVID

Answer 19

• marked reduction in IgG

- low IgM, IgA

Question 20

clinical consequences of CVID

Answer 20

• poor response to vaccines
• recurrent bacterial infections
• autoimmune disease
• NHL/other malignancy

Question 21

treatment for CVID

Answer 21

Ig replacement

Question 22

cause of x-linked hyper-IgM syndrome

Answer 22

defect in CD40L gene

Question 23

x-linked hyper-IgM syndrome causes: (2)

Answer 23

• decreased IgG, IgA, IgE due to defective class switching

- defective T cell immunity

Question 24

treatment of x-linked hyper-IgM syndrome

Answer 24

stem cell transplant

IVIG (treats partially)

Question 25

what causes CGD?

Answer 25

defective phagocyte oxidase

Question 26

test for CGD

Answer 26

test production of superoxide with nitroblue tetrazolium test

Question 27

pts with complement def are especially susceptible to-

Answer 27

bacterial infections, especially encapsulated bacteria

Question 28

test for complement def

Answer 28

CH50

Question 29

which complement def is typically fatal by 1 year

Answer 29

C3

Question 30

defects of innate immunity (4)

Answer 30

- complement def - CGD - leukocyte adhesion def - chediak-higashi syndrome

Question 31

what type of virus is HIV?

Answer 31

RNA

Question 32

SE of HAART (4)

Answer 32

- CV disease - renal disease - increased suicidality - osteopenia/porosis

Question 33

mortality rate of HCT

Answer 33

30%

Question 34

what are the three phases of opportunistic infections related to hematopoetic stem cell transplant

Answer 34

1- pre-engraftment (0-30 days) 2- post-engraftment (30-100 days) 3- late phase (101+ days)