Immunodeficiency Disorders Flashcards

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0
Q

Immunodefficiency characterized by very low levels of all immunoglobulins

A

X linked Agammaglobulinemia

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1
Q

Immunodefficiency characterized by failure of isotype switching

A

Selective IgA defficiency

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2
Q

In X linked Agammaglobulinemia, there is virtual absence of B cells due to

A

Tyrosine kinase mutation

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3
Q

Immunodefficiency characterized by defect in B cell maturation to plasma cells

A

Common Variable Immunodefficiency

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4
Q

It is the most common form of severe antibody defficiency affecting both children and adults

A

Common Variable Immunodefficiency

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5
Q

Immunodefficiency characterized by failure of development if thymus and parathyroids

A

Di George Syndrome

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6
Q

Manifestations and clinical presentation of Di george Syndrome

A
Cardiac defect TOF
Abnormal facies
Thymic aplasia Tetany due to hypocalcemia
Cleft palate
Hypocalcemia
22q11.2 chromosomal deletion
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7
Q

Immunodefficiency characterized by x linked defect in IL2 receptors in T cells

A

Severe Combined Immunodeficiency

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8
Q

Immunodefficiency characterized by inability to mount an IgM response

A

Wiskott Aldrich Syndrome

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9
Q

Wilcott Aldrich Syndrome involves mutation in

A

WASP gene for actin filament assembly

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10
Q

Triad of Wilcott Aldrich Syndrome

A

Thrombocytopenia
Infection
Eczema

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11
Q

Immunodefficiency characterized by lack of NADPH oxidase activity

A

Chronic granulomatous disease

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12
Q

Diagnostic test for Chronic Granulomatous Disease

A

Nitroblue Tetrazolium Test

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13
Q

Immunodefficiency characterized by failure of phagolysosomal fusion

A

Chediak Higashi Syndrome

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14
Q

Immunodefficiency characterized by delayed separation of umbilical cord

A

Leukocyte Adhesion Deficiency

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15
Q

Most common complement defect

A

C2 deficiency