FA quick phagocyte dysfunction 01-21 (1) Flashcards by Vaiva Cechanovičiūtė

Q

3 disorders?

A

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

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Q

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

A

Leukocyte adhesion deficiency (type 1)

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Q

Impaired migration and chemotaxis; autosomal recessive?

A

Leukocyte adhesion deficiency (type 1)

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Q

Late separation (>30 days) of umbilical cord?

A

Leukocyte adhesion deficiency (type 1)

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Q

absent pus?

A

Leukocyte adhesion deficiency (type 1)

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Q

dysfunctional neutrophils?

A

Leukocyte adhesion deficiency (type 1)

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Q

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

A

Leukocyte adhesion deficiency (type 1)

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Q

incr. neutrophils in blood

A

Leukocyte adhesion deficiency (type 1)

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Q

Absence of neutrophils at

infection sites –> impaired wound healing?

A

Leukocyte adhesion deficiency (type 1)

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Q

Defect in lysosomal trafficking regulator gene (LYST)?

A

Chédiak-Higashi syndrome

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Q

Microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive?

A

Chédiak-Higashi syndrome

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Q

Progressive neurodegeneration?

A

Chédiak-Higashi syndrome

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Q

Lymphohistiocytosis?

A

Chédiak-Higashi syndrome

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Q

Albinism (partial)?

A

Chédiak-Higashi syndrome

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Q

Recurrent pyogenic infections?

A

Chédiak-Higashi syndrome

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Q

peripheral Neuropathy

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A

Chédiak-Higashi syndrome

Q

Giant granules in granulocytes and platelets

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A

Chédiak-Higashi syndrome

Q

Pancytopenia

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A

Chédiak-Higashi syndrome

Q

Mild coagulation defects

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A

Chédiak-Higashi syndrome

Q

Defect of NADPH oxidase?

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A

Chronic granulomatous disease

Q

decr. reactive oxygen species (eg, superoxide)?

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A

Chronic granulomatous disease

Q

decr. respiratory burst in neutrophils?

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A

Chronic granulomatous disease

Q

X-linked form most common?

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A

Chronic granulomatous disease

Q

incr. susceptibility to catalase ⊕ organisms?

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A

Chronic granulomatous disease

Recurrent infections and granulomas?

Chronic granulomatous disease

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

Chronic granulomatous disease

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

Chronic granulomatous disease