Immuno Flashcards

1
Q

Deletion of 15q11-13

Patrrnal uniparental disomy

A

Angelman syndrome

Ataxic gait
Bouts of laughter
Seizure

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2
Q

Missing Xp22.3

A

Turner syndrome

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3
Q

T helper cells that contribute to chronicity of allergies

A

Th1

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4
Q

Degranulation abnormality
Decrease neutrophil chemotaxis
Neutropenia

A

Chediak Hegashi syndrome

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5
Q

Adhesion abnormality
Neutrophilia
Recurrent bacterial infection d/t lack of pus formation
Delayed cord separation

A

LAD

Leukocyte adhesion deficiency

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6
Q
Depressed motile response
AD
Stat3
Impaired chemotaxis of cytokines 
Retained primary teeth, recurrent skin or pulmonary infection, MC candidiasis
A

Hyper IgE syndrome

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7
Q

Cytokines for IgE production

A

IL 5

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8
Q

Immunologic type:

Hemolytic disease

A

2

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9
Q

Immunologic type:

Erythroblastosis fetalis

A

2

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10
Q

Immunologic type:

Graft rejection

A

2

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11
Q

Immunologic type:

Goodpasture syndrome

A

2

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12
Q

Immunologic type:

Transfusion reaction

A

2

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13
Q

Immunologic type:

ITP

A

2

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14
Q

Immunologic type:

Post infectious GN

A

3

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15
Q

Immunologic type:

Serum sickness

A

3

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16
Q

Immunologic type:

RA

A

3

17
Q

Immunologic type:

SLE

A

3

18
Q

Immunologic type:

SJS

A

3

19
Q

Immunologic type:

Polyarteritis nodosa

A

3

20
Q

Recurrent ear infection, bronchitis, pneumonia and dermatitis

A

X linked agammaglobulinemia

Bruttons disease

21
Q

Increased susceptibility to fungal, protozoal, viral infection

A

Di George syndrome

Congenital thymic aplasia

22
Q

CATCH22

A

Digeorge syndrome

23
Q

Succumb first 2 years

Recurrent OM, diarrhea, candidiasis, pneumonia

A

SCID

24
Q

Infection with varicella, candida, PCP, CMV

A

SCID

25
Q

Bleeding at circumcision site

Bloody diarrhea

A

Wiskott aldrich syndrome

26
Q

Triad
Thrombocytopenia
IgA deficiency
Eczema

A

Wiskott aldrich syndrome

27
Q

Deletion of 15q11-13

Maternal unipatental disomy

A

Prader willi

Hypogonadism
Small hands and feet