CIS 1 and CIS 2

Question 1

Leukocyte adhesion deficiency

Mechanism of Action

Answer 1

Mutation in Beta-2 Integrin genes
Causes defective leukocyte adhesion
Causes inability to migrate into tissues

Increased susceptibility to gram negative bacteria and fungi
No change in viral susceptibility

Question 2

Chronic Granulomatous Disease

Clinical Manifestation

Answer 2

Frequent abscesses (pyogenic infections)
Delayed infection healing
Infections show granulomas
Infections often caused by staph

Question 3

Leukocyte Adhesion Deficiency

Clinical manifestations

Answer 3

Delayed umbilical cord separation
Omphalitis
Severe recurrent infections with no pus
High WBC count even without infections
Skin ulcers and gingivitis

Question 4

Leukocyte Adhesion Deficiency

Diagnosis

Answer 4

Diagnose with flow cytometry to test for CD18

Question 5

Chronic Granulomatous Disease

Mechanism of Action

Answer 5

2 types:
X linked CGD (most common) -> NADPH Oxidase deficiency
Autosomal recessive

Causes enzymatic deficiency of phagocytes
Recurrent pyogenic infections from catalase-positive bacteria
Normal immunity to viral infection

Question 6

Chronic Granulomatous Disease

Diagnosis

Answer 6

NBT test useful for both infected and carriers

Question 7

Hereditary Angioedema

Causes and Treatment

Answer 7

C1 Inhibitor deficiency causing recurrent angioedema
Can be Hereditary or Acquired (auto-Ab/disease)

Treatments:
HAE - attenuated androgens
AAE - anti-fibrinolytic agents
Emergency - concentrated C1-Inh plasma

Question 8

Proxysmal Nocturnal Hemoglobinuria

Causes, Effects and Treatment

Answer 8

Somatic mutation -> deficient glycosylphosphatidylinositol which anchors DAF and CD59

C3 convertase and MAC form on self-cells
Causes intravascular hemolysis

Treat with EPO