Immunodeficiencies Flashcards Preview

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Flashcards in Immunodeficiencies Deck (25):
1

Chronic Granulomatous Disease etiology

2/3 of cases are X-linked recessive
1/3 of cases are autosomal recessive

2

CGD deficiency

Cytochrome B deficiency --> no NADPH oxidase

(no oxidative burst, cannot recycle NADP)

3

Inflammation of the nares
Large granuloma in the neck
Severe gingivitis
Esophageal stricture caused by a granuloma

CGD

4

Colorless nitroblue tetrazolium test

CGD (lacks NADPH oxidase, so cannot reduce NADPH)

5

CGD treatment

Antibiotics
IFN-gamma

6

What is always a ddx along with CGD?

Myeloperoxidase deficiency

7

What test differentiates between CGD and Myeloperoxidase deficiency?

NBT test

CGD: colorless
MD: dark

8

Clinical presentation:
Partial albinism
Peripheral neuropathy
Thrombocytopenia
Nystagmus

Chediak-Higashi syndrome

9

Chediak-Higashi etiology

Defect in polymerization of microtubules in neutrophils:

1. Defective neutrophil migration
2. Failure of phagocytosis
3. Failure of lysosomal function in neutrophils

10

Chediak-Higashi defective gene

CHS1 on chromosome 1

11

Deficiencies in C5-C9 are susceptible to what kind of infection?

Neisseria

12

Clinical presentation:
Facial edema
Abdominal pain
Asphyxiation

Hereditary angioedema

13

Hereditary angioedema deficiency

C1 inhibitor

14

XLA etiology

Bruton's tyrosine kinase gene defect (Btk)
Intereferes with VDJ rearrangement --> pre-B cells cannot differentiate to B-cells, cannot make immunoglobulins

15

XLA age of onset

6 months, after maternal immunity has worn off

16

Clinical presentation:
Recurrent otitis media, diarrhea, pneumonia
Chronic bacterial (esp. extracellular) infections
Very young (babies)

XLA

17

XLA diagnosis

No IgM
No IgA
Marked increase in IgG
T-cells normal

18

What should you not give XLA patients?

LIVE VACCINES

19

XLA defective gene

Btk

20

Clinical manifestations:
Recurrent bacterial infections
Sinopulmonary infections
Sclerosing cholangitis
Increased incidence of autoimmune disease

Hyper IgM syndrome

21

Hyper IgM etiology

Defective expression of CD40L on T-cells

22

CD40L is also known as _____

CD154

23

DiGeorge etiology

80-90% of cases are associated with a gene deletion located at 22q11

III-IV pharyngeal arch hypoplasia

Do not make T-cells

24

DiGeorge clinical manifestations

Cardiac defects
Abnormal faces
Thymic aplasia
Cleft palate
Hypocalcemia
22

25

Decreases peripheral blood lymphocytes
CD3+ markedly decreased
Serum calcium markedly decreased
CXR: no thymic shadow

Diagnosis?

DiGeorge