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Flashcards in White cells Deck (23)
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1

Chronic granulomatous disease:
- Most common mutation
- Underlying pathophysiology

- gp91phox (XL)
- Defects in phagocyte NADPH oxidase complex

2

Chronic granulomatous disease
- Clinical presentation

- Recurrent infx in skin, lung and LN in infancy
- Osteomyelitis, liver abcesses
- Chronic inflammatory granulomas

3

Chronic granulomatous disease
- 5 typical micro-organisms

S. aureus
Burkholderia cepacia
Serratia marscescens
Aspergillus
Nocardia

4

Chronic granulomatous disease
Treatment

Prophylaxis with sulfa and itraconazole
Prophylactic IFN-gamma (3 times/week)
BMT

5

A young boy presents with episodic neutropenia, cardiomyopathy and methylglutaconic aciduria.
What is the diagnosis?
Which gene mutation is associated?

Barth syndrome

TAZ1

6

What does the acronym WHIM stands for?

Warts
Hypogammaglobulinemia
Infection
Myelokathexis

7

Name 5 drugs (outside chemotherapy) associated with neutropenia

- Penicillin
- Cephalosporin
- Phenothiazine
- Phenytoin
- Phenobarbital

8

What is the definition of eosinophilia?

Eosinophil > 500

9

What is the inheritance of Pearson syndrome?
What are the associated findings?

Mitochondrial

Neutropenia leading to pancytopenia, ringed sideroblasts
with multi-organ dysfunction

10

A 4 y.o. girl presents with hepatomegaly, growth retardation and recurrent infection. Investigation reveal neutrophil dysfunction.

What is the diagnosis?
Bonus: associated mutation

Glycogen storage disease type I

Gene: G6PT1 (AR)

11

What is the lenght of cycles in cyclic neutropenia?

21 +/- 3 days

12

Chediak-Higashi synd: main characteristic features

- Partial albinism
- Changes in skin and hair
- Retinal changes (photophobia)
- Neutropenia
- Giant granules in leukocytes

13

What diseases (2) are associated with mutation in ELANE, the elastase gene?

- Cyclic neutropenia
- Severe congenital neutropenia (AD)

14

Mycobacterial infections and listeria meningitis: what defects to keep in mind?

Defects of INF-gamma + IL-12 axis

15

What is the phenotype of Hyper-IgE syndrome?

- Eczema
- Staphylococcal skin infections
- Pneumonias
- Skeletal problems: delayed tooth eruption, scoliosis, etc.

16

What genes are related to Hyper-IgE syndrome?

STAT3, DOCK8

17

Neonatal alloimmune neutropenia:
- Causes
- Duration

- Maternal IgG directed against neutrophils Ag (often HNA1, HNA2) leading to destruction of neonatal neutrophils
- Up to 6 months

18

What is the classical presentation of MPO deficiency?

- Recurrent fungal infections
- Diabetes

19

What is the classical presentation of LAD?

• Delayed umbilical cord separation
• Recurrent bacterial infections (skin and mouth)
• Absent pus formation (no neutrophils in wound biopsy)
• Impaired wound healing
• Leukocytosis

20

What abnormality is found in LAD?

Absence of CD11, CD18

21

What is the classical presentation of specific granules deficiency?

– Decreased chemotaxis and microbicidal activity
– Mild neutropenia with bi-lobed neutrophils
– Recurrent skin and deep tissue infections (S. aureus, Gram-negative bacteria, Pseudomonas aeruginosa, Candida albicans)

22

What abnormality is found in specific granule deficiency?

CEBP e

23

Name 4 genes associated with dyskeratosis congenita?

1. DKC1
2. ACD
3. CTC1
4. NOP10