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Immunology-Nicole > Immuno Diseases > Flashcards

Immuno Diseases Flashcards

1
Q

Severe Combined Immunodeficiency (XSCID) what is the defect?

A

CD132 mutation

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2
Q

XSCID —> what cells are affected?

A

B and T cells

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3
Q

So if B and T cells are affected in XSCID what types of infections are these patients going to present with?

A

Bacterial, viral and fungal

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4
Q

What are some treatments for XSCID?

A

Gene Therapy
Bone Marrow Transplant
IVIG

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5
Q

What receptors have lack of signaling in XSCID?

A

IL-2, IL-4, IL-7,IL-9,IL-15, and IL-21

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6
Q

Severe Combined Immunodeficiency (ADA) What is the defect?

A

Adenosine Deaminase Deficiency (ADA)

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7
Q

XSCID –> what cells are affected?

A

B and T cells

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8
Q

So if B and T cells are affected in ADA what types of infections are these patients going to present with?

A

Bacterial, Fungal, and Viral

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9
Q

what are some treatment for ADA?

A

Peg-ADA
Gene Therapy
Bone Marrow Transplant
IVIG

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10
Q

What metabolite levels are increased in ADA?

A

Deoxy-ATP and deoxy-adenosine levels

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11
Q

Severe Combine Immunodeficiency (JAK3) what is the defect?

A

JAK3

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12
Q

JAK3 presents clinically the same as what other disorder?

A

CD132

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13
Q

Does JAK3 have the same deficiency of signaling to the same receptors as CD132?

A

YES

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14
Q

what are some treatments for JAK3?

A

Bone Marrow Transplant

IVIG

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15
Q

what is the defect in reticular dysgenesis?

A

absence of stem cells

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16
Q

what are the manifestations of reticular dysgenesis?

A

fatal septicemia shortly after birth

17
Q

what is the defect in DiGeorge Syndrome?

A

chromosome 22

18
Q

what are the manifestations of DiGeorge Syndrome?

A

failure to thrive; frequent infections (fungal, bacterial, and viral) ; fatigues easily; parathyroid glands, heart and thymus may be affected. Physical abnormalities vary; allergies and asthma are common

19
Q

what is the defect in common variable hypogammaglobulinemia?

A

mainly unknown and when know varies

20
Q

what are the manifestations in common variable hypogammaglobulinemia?

A

low levels of serum Ig; increased susceptibility to infections. Male and female

Immunology-Nicole (20 decks)

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