Last lecture Flashcards

1
Q

ADA

Trait

A

Autosomal recessive
Males/ Females

T-, B-, NK-

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2
Q

Common y chain deficiency

A

X-linked recessive
Boy

T-, B+, NK-

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3
Q

Jak3

A

Autosomal recessive

T-, B+, NK-

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4
Q

Wiskott-Aldrich Syndrome

A

X-linked recessive
Males

Decrease T cells
IgG= normal
IgM= low
IgA and IgE= high

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5
Q

IPEX

A

X-linked

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6
Q

X-linked Bruton Agammaglobulinemia

A

X-linked

low IgG, IgA, IgM

arrests at pre-B

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7
Q

Autosomal Recessive Agammaglobulinemia

A

BLNK
Ig-alpha
u chain
_5 chain

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8
Q

Common Variable Immune Deficiency

A

Autosomal

Low IgG, IgA
Normal/low IgM

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9
Q

Hyper IgM Syndromes (HIGM)

A

2 kinds:

Xlinked–> mutation in CD40L
AR–> mutation in CD40

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10
Q

Transient hypogammaglobulinemia of Infancy

A

IgM can be normal

IgG, IgA is low

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11
Q

Chronic Granulomatous Disease

more common in

A

males

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12
Q

Myeloperoxidase (MPO) Deficiency

A

Autosomal recessive

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13
Q

G6PD Deficiency

A

X-linked recessive

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14
Q

Chediak-Higashi Syndrome

A

Autosomal recessive

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