Immunodeficiency Disorders Flashcards Preview

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Flashcards in Immunodeficiency Disorders Deck (16):
0

Immunodefficiency characterized by failure of isotype switching

Selective IgA defficiency

1

Immunodefficiency characterized by very low levels of all immunoglobulins

X linked Agammaglobulinemia

2

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

Tyrosine kinase mutation

3

Immunodefficiency characterized by defect in B cell maturation to plasma cells

Common Variable Immunodefficiency

4

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

Common Variable Immunodefficiency

5

Immunodefficiency characterized by failure of development if thymus and parathyroids

Di George Syndrome

6

Manifestations and clinical presentation of Di george Syndrome

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

7

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

Severe Combined Immunodeficiency

8

Immunodefficiency characterized by inability to mount an IgM response

Wiskott Aldrich Syndrome

9

Wilcott Aldrich Syndrome involves mutation in

WASP gene for actin filament assembly

10

Triad of Wilcott Aldrich Syndrome

Thrombocytopenia
Infection
Eczema

11

Immunodefficiency characterized by lack of NADPH oxidase activity

Chronic granulomatous disease

12

Diagnostic test for Chronic Granulomatous Disease

Nitroblue Tetrazolium Test

13

Immunodefficiency characterized by failure of phagolysosomal fusion

Chediak Higashi Syndrome

14

Immunodefficiency characterized by delayed separation of umbilical cord

Leukocyte Adhesion Deficiency

15

Most common complement defect

C2 deficiency