FUNCTIONAL LEUKOCYTE ALTERATION

Question 1

Jobs Syndrome Aka _____

Answer 1

Autosomal Dominant Hyper immunoglobulin E Syndrome

Question 2

Job Syndrome is a mutation in what gene

Answer 2

STAT 3 GENE

Question 3

Problem in Job Syndrome

Answer 3

Directional Motility is impaired,cell response to chemotactic is slow

Question 4

Clinical features of Job Syndrome

Answer 4

Triad
- pneumonia
- recurrent pulmonary tissue abscess
- elevated Ig E levels

Blood and Tissue Eosinophilia

Question 5

both random and direct movement is impaired

Answer 5

Lazy Leukocyte Syndrome

Question 6

neutropenia is a consistent finding, cells fails to respond to inflammatory stimuli but appears to have normal phagocytic and bacterial activity

Answer 6

Lazy Leukocyte Syndrome

Question 7

Clinical features of Lazy Leukocyte Syndrome

Answer 7

low grade fever
recurrent infections

Question 8

Lazy Leukocyte Syndrome contain a defective what

Answer 8

Defective actin filaments resulting to defective chemotaxis

Question 9

group of disorders involving inheritance or either x-linked or autosomal recessive gene that affects neutrophils microbicidal function

Answer 9

Chronic Granulomatous Disease

Question 9

Symptoms of CGD (7)

Answer 9

recurrent suppurative infection
pneumonia
osteomyelitis
draining adenopathy
liver abscess
dermatitis
hypergammaglobilinemia

Question 9

Two test for CGD

Answer 9

1. Nitroblue tetrazolium reduction test
2. flow cytometry assay

Question 9

main problem of CGD

Answer 9

decreased ability of phagocyte to produce superoxide and reactive oxygen species

Question 10

CGD is a mutation in what gene

Answer 10

NADPH Oxidase leading to neutrophil incapable of generating oxidative burst

Question 10

Nitroblue tetrazolium reduction test normal result

Answer 10

reduce the Yellow water soluble
Nitroblue Tetrazolium to a dark blue insoluble formazan

Question 10

Nitroblue tetrazolium reduction test abnormal result

Answer 10

It will not reduce the yellow and will RETAIN AS YELLOW

Question 10

flow cytometry Labelled with

Answer 10

dihydrorhodamine (DHR)

Question 11

flow cytometry result

Answer 11

DHR will fluoresce = reduces

Question 12

Myeloperoxidase Deficiency
Aka:

Answer 12

Alius-Grignaschi Anomaly

Question 13

Benign inherited disorder that is usually transmitted by autosomal recessive genes

Answer 13

Myeloperoxidase Deficiency

Question 14

in Myeloperoxidase Deficiency
Bacteria killing is slowed but complete
COMPENSATION:

Answer 14

RESPIRATORY BURST ACTIVITY INCREASED

Question 15

MAIN PROBLEM in Myeloperoxidase Deficiency

Answer 15

absence of MPO enzyme from neutrophil and monocytes but not eosinophils
a

Question 16

Myeloperoxidase Deficiency Seen on patients with

Answer 16

acute and chronic leukemia, myelodysplastic syndrome, Hodgkin disease and carcinoma

Question 17

Inherited, autosomal recessive trait

Answer 17

Chediak - Higashi Syndrome

Question 18

Chediak - Higashi Syndrome is a mutation in what gene

Answer 18

CHS1 LYST gene on chromosome 1q42.1-2

Question 19

Abnormally large lysosomes = contain fused dysfunctional granules

Answer 19

Chediak - Higashi Syndrome

Question 20

clinical manifestations of CHS

Answer 20

hypo pigmentation/partial albanism severe immune deficiency neurologic abnormalities mild bleeding tendencies

Question 21

Autosomal recessive Inability of WBCs to move from the circulation to the site of inflammation

Answer 21

Leukocyte Adhesion Deficiency

Question 22

LAD Type I . Mutation in

Answer 22

ITGB2 gene encoding for CD18 subunit of Beta-2 integrins

Question 23

Clinical Manifestations of LAD type 1

Answer 23

Skin and mucosal infections Lymphadenopathy, splenomegaly Delayed cord separation Leukocytosis Tissue neutropenia

Question 24

defective adhesion to endothelial cells

Answer 24

LAD TYPE 1

Question 25

LAD Type II mutation in what gene

Answer 25

SLC35C1 gene encoding for fucose transporter necessary for selectin ligand synthesis Normal Beta2 integrins

Question 26

defective leukocytes rolling

Answer 26

LAD TYPE 2

Question 27

associated with bombay blood group

Answer 27

LAD TYPE 2

Question 28

clinical manifestation pf LAD TYPE 2

Answer 28

recurrent infection

Question 29

LAD Type III * Mutation in

Answer 29

FERMTS3 gene encoding for kindlin-3

Question 30

-Defective Beta integrin activation -Defective leukocyte rolling, activation

Answer 30

LAD TYPE 3

Question 31

LAD TYPE 3 Decreased in what

Answer 31

platelet integrin GPIIbBeta3

Question 32

Normal integrin expression but failure to response to external signals

Answer 32

LAD TYPE 3

Question 33

LAD TYEP 3 Clinical Manifestations:

Answer 33

Mild LAD I-like immunodeficieny Recurrent infections Bleeding

Question 34

Tay sach syndrome is a mutation in what gene

Answer 34

HEXA GENE