WBC DISORDER

Question 1

NONMALIGNANT LEUKOCYTE DISORDERS

Answer 1

❑ Congenital defects of leukocyte number and function
❑ Morphologic abnormalities of leukocytes
❑ Quantitative abnormalities of leukocytes
❑ Infectious Mononucleosis

Question 2

Congenital defects of
leukocyte number and function

Answer 2

1.Severe Combined Immunodeficiency disorder (SCID)
2. Wiskott-Aldrich Syndrome (WAS)
3. 22q11 Syndromes
4. Bruton tyrosine kinase Deficiency
5.Chédiak – Higashi Syndrome
6. Congenital defects of phagocytes
7. Leukocyte Adhesion Disorders
8. Defects of respiratory burst
9.WHIM syndrome

Question 3

Affects both cellular and humoral immunity

Answer 3

Severe Combined Immunodeficiency disorder (SCID)

Question 4

Patients exhibits : ⇣ T cells, poorly functioning B cells,hypogammaglobulinemia

Answer 4

Severe Combined Immunodeficiency disorder (SCID)

Question 5

Gamma chain deficiency : mutations in?

Answer 5

IL2RG gene
(IL 2,4,7,9,15,21)

Severe Combined Immunodeficiency disorder (SCID)

Question 6

• X linked disease
  Caused by one of 400 mutations in the WAS gene : (⇣ levels of
  WASp proteins)

Answer 6

Wiskott-Aldrich Syndrome (WAS)

Question 7

⇣ B cells, T NK cells neutrophils, monocytes are dysfunctional

Answer 7

Wiskott-Aldrich Syndrome (WAS)

Question 8

Therapies for Wiskott-Aldrich Syndrome (WAS)

Answer 8

Therapies : eltrombopag, romiplostim, Gene therapy

Question 9

• Microdeletion in chromosome band 22q11.2
• Absence or decreased size of thymus
• Low number of T lymphocytes

Answer 9

22q11 Syndromes

Question 10

22q11 Syndromes classified as immunodeficiency, includes:

Answer 10

✓DiGeorge Syndrome
✓Sedlackova syndrome
✓Caylor cardiofacial syndrome
✓Shprintzen syndrome
✓Conotruncal anomaly face syndrome

Question 11

➢Bruton tyrosine kinase Deficiency

Answer 11

• Antibody deficiency

Question 12

mutation in the gene encoding Bruton tyrosine kinase

Answer 12

⇣ production of BTK which is important for B-cell development, differentiation and signaling

Question 13

Chédiak – Higashi Syndrome mutation in the?

Answer 13

CHS1 LYST gene on chromosome 1q42.1-2

Question 14

CHS1 LYST gene on chromosome 1q42.1-2

Answer 14

encodes for a protein that regulates the morphology and function of lysosome related organelles.

Question 15

giant lysosomal granules in granulocytes, monocytes, and lymphocytes

Answer 15

Chédiak – Higashi Syndrome

Question 16

Inclusions that resembles the fused lysosomal granules in CHS Chédiak – Higashi Syndrome

Answer 16

Pseudo Chédiak – Higashi

Question 17

are cytoplasmic inclusions that are seen in patients with acute myeloid leukemia, chronic myeloid leukemia and myeloidyplastic syndrome (MDS)

Answer 17

Pseudo Chédiak – Higashi

Question 18

• Congenital neutropenia (CN)

Answer 18

Congenital defects of phagocytes

Question 19

Low neutrophil count

Answer 19

Congenital neutropenia (CN)

Question 20

Caused by 24 kinds of genes

Answer 20

Congenital defects of phagocytes or Congenital neutropenia (CN)

Question 21

• Treatment :
  -antibiotic prophylaxis,
  -G-CSF (higher dose
  have been assoc. with increased risk of malignant transformation)

Answer 21

Congenital defects of phagocytes

Question 22

defects of motility

Answer 22

Leukocyte Adhesion Disorders

Question 23

• inability of neutrophils and monocytes to move from circulation to the site of inflammation (called
  extravasation)

Answer 23

Leukocyte Adhesion Disorders

Question 24

Consequences:recurrent severe bacterial & viral
infections

Answer 24

Leukocyte Adhesion Disorders

Question 25

Hematopoietic stem cell transplant is the only curative treatment.

Answer 25

Leukocyte Adhesion Disorders

Question 26

Leukocyte Adhesion Disorders * Types:

Answer 26

LAD I, II, III, SDS

Question 27

Chronic Granulomatous disease (CGD)

Answer 27

Defects of respiratory burst

Question 28

caused by mutations in genes responsible for proteins that make up the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase

Answer 28

Defects of respiratory burst

Question 29

patients experience life-threatening catalase-positive bacterial and fungal infections

Answer 29

Defects of respiratory burst

Question 30

WHIM meaning

Answer 30

warts, hypogammaglobulinemia, infections myelokathexis syndrome

Question 31

a defect in intrinsic and innate immunity

Answer 31

WHIM syndrome

Question 32

mutations in the CXCR4 gene located at 2q22

Answer 32

WHIM syndrome

Question 33

patients experience recurrent bacterial infections and are highly susceptible to human papillomavirus (HPV) infection, which leads to warts, which can be widespread and resistant to treatment

Answer 33

WHIM syndrome

Question 34

WHIM syndrome Treatment

Answer 34

anitibiotic prophylaxis,immunoglobulin replacement G-CSF CXCR4 receptor antagonist