FA quick phagocyte dysfunction 11/05

Question 1

3 disorders?

Answer 1

Leukocyte adhesion deficiency (type 1);
Chédiak-Higashi syndrome;
Chronic granulomatous disease

Question 2

Defect in LFA-1 integrin (CD18) protein on phagocytes?

Answer 2

Leukocyte adhesion deficiency (type 1)

Question 3

Impaired migration and chemotaxis; autosomal recessive?

Answer 3

Leukocyte adhesion deficiency (type 1)

Question 4

Late separation (>30 days) of umbilical cord?

Answer 4

Leukocyte adhesion deficiency (type 1)

Question 5

absent pus?

Answer 5

Leukocyte adhesion deficiency (type 1)

Question 6

dysfunctional neutrophils?

Answer 6

Leukocyte adhesion deficiency (type 1)

Question 7

Late separation (>30 days) of umbilical cord, absent pus, dysfunctional neutrophils –> recurrent skin and mucosal bacterial infections

Answer 7

Leukocyte adhesion deficiency (type 1)

Question 8

incr. neutrophils in blood

Answer 8

Leukocyte adhesion deficiency (type 1)

Question 9

Absence of neutrophils at

infection sites –> impaired wound healing?

Answer 9

Leukocyte adhesion deficiency (type 1)

Question 10

Defect in lysosomal trafficking regulator gene (LYST)?

Answer 10

Chédiak-Higashi syndrome

Question 11

Microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive?

Answer 11

Chédiak-Higashi syndrome

Question 12

Progressive neurodegeneration?

Answer 12

Chédiak-Higashi syndrome

Question 13

Lymphohistiocytosis?

Answer 13

Chédiak-Higashi syndrome

Question 14

Albinism (partial)?

Answer 14

Chédiak-Higashi syndrome

Question 15

Recurrent pyogenic infections?

Answer 15

Chédiak-Higashi syndrome

Question 16

peripheral Neuropathy

Answer 16

Chédiak-Higashi syndrome

Question 17

Giant granules in granulocytes and platelets

Answer 17

Chédiak-Higashi syndrome

Question 18

Pancytopenia

Answer 18

Chédiak-Higashi syndrome

Question 19

Mild coagulation defects

Answer 19

Chédiak-Higashi syndrome

Question 20

Defect of NADPH oxidase?

Answer 20

Chronic granulomatous disease

Question 21

decr. reactive oxygen species (eg, superoxide)?

Answer 21

Chronic granulomatous disease

Question 22

decr. respiratory burst in neutrophils?

Answer 22

Chronic granulomatous disease

Question 23

X-linked form most common?

Answer 23

Chronic granulomatous disease

Question 24

incr. susceptibility to catalase ⊕ organisms?

Answer 24

Chronic granulomatous disease

Question 25

Recurrent infections and granulomas?

Answer 25

Chronic granulomatous disease

Question 26

Abnormal dihydrorhodamine (flow cytometry) test (decr. green fluorescence)?

Answer 26

Chronic granulomatous disease

Question 27

Nitroblue tetrazolium dye reduction test (obsolete) fails to turn blue?

Answer 27

Chronic granulomatous disease