Immunodeficiencies Flashcards Preview

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Flashcards in Immunodeficiencies Deck (25)
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1
Q

Chronic Granulomatous Disease etiology

A

2/3 of cases are X-linked recessive

1/3 of cases are autosomal recessive

2
Q

CGD deficiency

A

Cytochrome B deficiency –> no NADPH oxidase

no oxidative burst, cannot recycle NADP

3
Q

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

A

CGD

4
Q

Colorless nitroblue tetrazolium test

A

CGD (lacks NADPH oxidase, so cannot reduce NADPH)

5
Q

CGD treatment

A

Antibiotics

IFN-gamma

6
Q

What is always a ddx along with CGD?

A

Myeloperoxidase deficiency

7
Q

What test differentiates between CGD and Myeloperoxidase deficiency?

A

NBT test

CGD: colorless
MD: dark

8
Q
Clinical presentation:
Partial albinism
Peripheral neuropathy
Thrombocytopenia
Nystagmus
A

Chediak-Higashi syndrome

9
Q

Chediak-Higashi etiology

A

Defect in polymerization of microtubules in neutrophils:

  1. Defective neutrophil migration
  2. Failure of phagocytosis
  3. Failure of lysosomal function in neutrophils
10
Q

Chediak-Higashi defective gene

A

CHS1 on chromosome 1

11
Q

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

A

Neisseria

12
Q

Clinical presentation:
Facial edema
Abdominal pain
Asphyxiation

A

Hereditary angioedema

13
Q

Hereditary angioedema deficiency

A

C1 inhibitor

14
Q

XLA etiology

A

Bruton’s tyrosine kinase gene defect (Btk)

Intereferes with VDJ rearrangement –> pre-B cells cannot differentiate to B-cells, cannot make immunoglobulins

15
Q

XLA age of onset

A

6 months, after maternal immunity has worn off

16
Q

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

A

XLA

17
Q

XLA diagnosis

A

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

18
Q

What should you not give XLA patients?

A

LIVE VACCINES

19
Q

XLA defective gene

A

Btk

20
Q
Clinical manifestations:
Recurrent bacterial infections
Sinopulmonary infections
Sclerosing cholangitis
Increased incidence of autoimmune disease
A

Hyper IgM syndrome

21
Q

Hyper IgM etiology

A

Defective expression of CD40L on T-cells

22
Q

CD40L is also known as _____

A

CD154

23
Q

DiGeorge etiology

A

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

III-IV pharyngeal arch hypoplasia

Do not make T-cells

24
Q

DiGeorge clinical manifestations

A
Cardiac defects
Abnormal faces
Thymic aplasia
Cleft palate
Hypocalcemia
22
25
Q

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

Diagnosis?

A

DiGeorge