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First Aid Rote > Genetic disorders > Flashcards

Genetic disorders Flashcards

1
Q

pattern recognition of symptoms: SCID

A

severe bacterial and viral infections in infancy
chronic diarrhea
mucocutaneous candidiasis
often, reduced thymic shadow

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2
Q

pattern recognition of symptoms: Wiskott-Aldrich

A

recurrent infections that worsen with age
easy bleeding
eczema

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3
Q

pattern recognition of symptoms: DiGeorge

A

congenital heart defects
dysmorphic face
hypocalcemia

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4
Q

pattern recognition of symptoms: Ataxia-Telangiectasia

A

ataxia
telangiectasia
recurrent sinupolumonary infections

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5
Q

pattern recognition of symptoms: Chediak-Higashi syndrome

A

oculocutaneous albinism
pyrogenic infections
progressive neurological dysfunction

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6
Q

pattern recognition of symptoms: Chronic granulomatous disease

A

severe bacterial and fungal infections

granuloma formation

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7
Q

pattern recognition of symptoms: C5-C9 deficiency

A

recurrent neisseria infection

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First Aid Rote (3 decks)

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