Immunodeficiency Disorders

Question 1

This deficiency block the maturation of Pre B cells, and has a genetic defect in the long arm of X chromosome.

Answer 1

Bruton’s X-linked Aggamaglobulinemia

Question 2

What is the most common form of selective Ig deficiency?

Answer 2

Selective IgA deficiency

Question 3

IgA levels in selective IgA deficiency?

Answer 3

<5 mg/dL or 0.05 mmol/L

Question 4

This deficiency happens when the onset of Immunoglobulin synthesis is delayed, that happens between 5-6th month of life of infants.

Answer 4

Transient Hypogammaglobulinemia

Question 5

What is the other name for COngenital Thymic Hypoplasia?

Answer 5

Digeorge Syndrome

Question 6

What deficiency that has a faulty development of 3rd and 4th pharyngeal pouches?

Answer 6

Digeorge Syndrome

Question 7

Congenital thymic Hypoplasia is associated with the defect of what chromosome?

Answer 7

chromosome 22

Question 8

What THYMIC DYSPLASIA results in decreased to absent t cell mediated immunity?

Answer 8

Nezelof’s Syndrome

Question 9

What abnormality can be seen in Nezelof’s Syndrome?

Answer 9

Lymphadenopathy & Hepatosplenomegaly

Question 10

What is deficient in the Bare Lymphocyte Syndrome?

Answer 10

MHC II gene products on the Tcell surface

Question 11

Chronic Granulomatous Disease has a defect in the production of what substance?

Answer 11

NADPH oxidase

Question 12

What test is used to diagnose CGD?

Answer 12

NBT (Nitroblue Tetrazolium test)

Question 13

Chediak Higashi Syndrome has what distinct characteristic?

Answer 13

Giant cytoplasmic granules

Question 14

What defect causes chemotaxis and phagosome degranulation?

Answer 14

Chediak Higashi Deficiency

Question 15

What defect causes neutrophils demonstrate defective chemotaxis?

Answer 15

Job’s Syndrome

Question 16

This has a defective chemotactic response and random movement.

Answer 16

Lazy Leukocyte Syndrome

Question 17

What do you call a deficiency in a phagocytosis-promoting serum tetrapeptide that is cleaved from a Leukokinin in the spleen?

Answer 17

Tuftsin Deficiency

Question 18

Lack of CD18

Answer 18

Leukocyte Adhesion Deficiency

Question 19

What autosomal recessive deficiency is associated with ADENOSINE DEAMINASE?

Answer 19

Severe Combined Immunodeficiency Disease (SCID)

Question 20

Wiskott Aldrich Syndrome has a mutation in what gene?

Answer 20

WASP gene

Question 21

Wiskott Aldrich Syndrome demonstrates what distinct characteristic?

Answer 21

Triad of Eczema, Thrombocytopenia, Immunodeficiency

Question 22

This is a result of specific genetic defects that affects DNA repair

Answer 22

Ataxia telangiectasia

Question 23

This disease has a mutation in the SH2DAI/SAP gene, and is vulnerable to EBV infection.

Answer 23

Duncan’s Syndrome (X-linked Lymphoproliferative Disease)