PID

Question 1

Chronic Granulomatous Disease

Answer 1

-Childhood disease (can be diagnosed as late as 3rd decade)

• deficiency in NADPH oxidase
• ->reduction in leukocyte oxidative burst
• recurrent infections of S. aureus, Burkholderia, Serratia, Nocardia, Aspergillus

Diagnosed-abnormal nitroblue tetrazolium test or flow cytometry DHR assay

TX- antimicrobial prophylaxis

Question 2

Serum Protein ElectroPhoresis

Answer 2

CVID

Question 3

CH50

Answer 3

Terminal complement components

Question 4

Nitrozoleum blue test

Answer 4

CGD

Question 5

CVID

Answer 5

• 5 years or 25-30 years
• recurrent bacterial infections- respiratory with encapsulated bacteria and GI-Giardia

Diagnosis-low Ig levels or one of its subsets

Poor response to vaccines- check pneumococcal and tetanus titers

Increased risk of autoimmunity and malignancy and interstitial lung disease

Tx-regular Ig infusions

Question 6

Terminal complement component deficiency C5-9

Answer 6

Recurrent neisserial infections

CH50

Treatment-Early initiation of antibiotics
Meningococcal vaccine

Question 7

IgA deficiency

Answer 7

Common
Usually asymptomatic

Low IgA levels alone do not cause recurrent bacterial infections

• prone to GI infection-GIardia
• increased risk of autoimmune disorders

Transfusion

• washed
• ffp form iga deficient donor

Question 8

Hereditary Angioedema

Answer 8

no hives

angioedema (respiratory distress)

GI (symptoms similar to obstruction)

Low C4-C1 esterase inhibitor levels

Treatment
-C1 inhibitor concentrate, kallikrein inhibitor- ecallantide, or icatibant-bradykinin receptor antagonist

Prophylaxis Rx
-attenuated androgens
increase C1-inhibitor via increased hepatic synthesis
-fibrinolytic agents help in fibrinolysis and spare C1 inhibitor this work