1ary Immunodeficiency

Question 1

What is the CD marker of Common Myeloid precursors

Answer 1

CD 34

Question 2

CD markers of neutrophils

Answer 2

CD 15, 33

Question 3

CD marker of monocyte

Answer 3

CD 14

Question 4

CD marker of NK cells

Answer 4

Cd 16, 56

Question 5

CD markers of B cells

Answer 5

CD 19, 20

Question 6

CD marker of T cells

Answer 6

CD 3, 4, 8

Question 7

Which type of organisms os associated with T lymphocytes (scid or cid) defects in primary Immunodeficiency

Answer 7

Intracellular organisms (viruses, fungi, Mycobacteria..)

Question 8

Which type of organisms os associated with B cells defects in primary Immunodeficiency

Answer 8

°Extracellular &
Capsulated
microorganisms

• Persistent Enterovirus
infection

Question 9

What is the mode of inheritance of Gama C Receptor deficiency in T-ve B+ve NK-ve immunophenotype?

Answer 9

X-linked and it is the only one. The rest are Autosomal Recessive

Question 10

Mode of inheritance in Jak3 mutation of SCID

Answer 10

Autosomal Recessive

Question 11

What is the immunophenotype of IL 7R alpha deficiency type of SCID?

Answer 11

T-ve B+ve NK+ve

Question 12

What is the test used to screen for neonatal SCID?

Answer 12

• T-cell Receptor Excision Circle (TREC) assay:

It is also a marker for thymic output

Question 13

Mode of inheritance of Wiskot Aldrich Syndrome

Answer 13

X-linked

Question 14

What is the genetic abnormality in Digeorge syndrome?

Answer 14

Microdeletion: 22q11.2 (DGS critical region)

Question 15

How to diagnose digeorge syndrome?

Answer 15

FISH technique

Question 16

Treatment of digeorge syndrome

Answer 16

Thymic transplant

Question 17

What is the genetic mutation in Ataxia Telangiectasia

Answer 17

ATM gene mutation

Question 18

Mode of inheritance of ataxia Telangiectasia

Answer 18

AR

Question 19

Management of X-linked Agammaglobulinemia
(XLA)

Bruton Tyrosine Kinase (BTK)
deficiency

Answer 19

Regular IVIG/SCIG

Question 20

Mode of inheritance of chronic granulomatous disease

Answer 20

AR & X linked

Question 21

Defect in chronic granulomatous disease

Answer 21

NADPH oxidase

Question 22

Diagnositic test of chronic granulomatous disease (CGD)

Answer 22

DHR burst test (FACS)

• measures H2O2 production in response to stimulation

Question 23

Treatment of chronic granulomatous disease

Answer 23

Prophylactic antibiotics (cotrimoxazole)
• Prophylactic antifungals (itraconazole)
• Steroids for inflammatory complications

Question 24

What is wiskot Aldrich Syndrome?

Answer 24

X-linked immunodeficiency
Characterized by a tria of:
Eczema
Micro-Throbocytopenia
Combined Immunodeficiency