(F) L3.2 Non-malignnt WBC disorders

Question 1

NORMAL MORPHOLOGY WITH FUNCTIONAL

ABNORMALITIES

● Rare inherited disorder of phagocytic dysfunction
● Characterized by an inability of phagocytes to produce
reactive oxygen species (ROS) due to mutations
affecting NADPH oxidase
●Recurrent infection (lungs, skin, liver, lymph nodes)
● Granulomas that may obstruct organs (intestines,
urinary tract)

Answer 1

CHRONIC GRANULOMATOUS DISEASE (CGD)

Question 2

CHRONIC GRANULOMATOUS DISEASE (CGD)

INHERITANCE PATTERNS
A. X-linked recessive
B. autosomal recessive

1. ~35-40% of cases
2. ~60-65% of cases

Answer 2

BA

Question 3

Two tests to diagnose CGD

Answer 3

nitroblue tetrazolium
flow cytometry

Question 4

all but one is a treatment for CGD
A. short term antimicrobial prophylaxis
B. Quick recognition and aggressive treatment of acute infections and inflammatory complications
C. Hematopoietic stem cell transplantation
D. Antifugal agents

Answer 4

A. long term antimicrobial prophylaxis

Question 5

• Rare autosomal recessive primary immunodeficiency
  disorders
• Inability of neutrophils and monocytes to move from
  peripheral circulation to sites of infection
• Recurring infections and impaired wound healing
• Absolute neutrophilia, especially during infection

Answer 5

LEUKOCYTE ADHESION DISORDERS (LAD)

Question 6

LEUKOCYTE ADHESION DISORDERS (LAD)

subtypes
a. LAD-I
b. LAD-II
c. LAD-III

1. Cause: Mutation in SLC35C1 (codes for a fucose
   transporter)
2. Cause: Mutation in ITGB2 (encodes CD18
   subunit of β2 integrins)
3. Cause: Mutation in FERMT3 (encodes kindlin-3)

Answer 6

BAC

Question 7

LEUKOCYTE ADHESION DISORDERS (LAD)

subtypes
a. LAD-I
b. LAD-II
c. LAD-III

1. Cause: Mutation in SLC35C1 (codes for a fucose
   transporter)
2. Cause: Mutation in ITGB2 (encodes CD18
   subunit of β2 integrins)
3. Cause: Mutation in FERMT3 (encodes kindlin-3)

Answer 7

BAC

Question 8

LEUKOCYTE ADHESION DISORDER

T or F

Abnormal integrin expression, therefore integrins fail to respond to external signals

Answer 8

F (normal integrin expression)

Question 9

• Most common inherited disorder of phagocyte
• a deficiency in ____ in the primary granules of neutrophils and lysosomes of monocytes
• Inherited in an autosomal dominant manner
• Mutation in the MPO gene on chromosome 17q23
• Prevalence: Approximately 1 in 2000 individuals

Answer 9

Myeloperoxidase deficiency (MPO Deficiency)

Question 10

• catalyzes the conversion of H2O2 to hypochlorite
  (HOCl) and other microbicidal reactive oxygen
  intermediates
• Plays a crucial role in killing phagocytized bacteria and
  yeast, and in forming neutrophil extracellular traps
  (NETs)

Answer 10

myeloperoxidase

Question 11

MPO deficiency

Clinical presentation
* most individuals are (symptomatic / asymptomatic)
* (increased / decreased) susceptibility to fungal infections when comorbidities are present

Answer 11

asymptomatic
increased

Question 12

INFECTION MONONUCLEOSIS

• is a member of the herpesvirus family, primarily known
  for causing infectious mononucleosis (“mono”) and
  associated with various cancers, including Burkitt
  lymphoma and nasopharyngeal carcinoma
• Transmission: primarily through saliva (“kissing
  disease”); but can also be transmitted through blood and
  organ transplants

Answer 12

EPSTEIN-BARR VIRUS (EBV)

Question 13

EPSTEIN-BARR VIRUS (EBV)

EBV infects ________ and
epithelial cells. After initial infection, it establishes a
latent in B cells, allowing it to persist lifelong in the host

Answer 13

B lymphocytes