Immunodeficiency

Question 1

Primary Immunodeficiency (PAD)

Answer 1

Inherited immunodeficiency
- presents early in life
family history + baby fails to thrive

Question 2

Secondary immunodeficiency

Answer 2

acquired

- immunosuppression/ infection (HIV/ HEP B)

Question 3

4 hall marks of immunodeficiency

Answer 3

SPUR 
- serious infection 
- Persistent infections 
- Unusual infections 
- Repeated infections
2x pneumonia in kids in a year 
in adults 3 yrs

Question 4

common infections in PID

Answer 4

sinusitis, Otis media, pneumonia, bronchitis (bronchiectasis), laryngeal angioedema, interstitial lung disease

Question 5

x linked agammaglobilinemia

Answer 5

recessive inherited
bruton’s kinase tyrosine mutation
immature B cells

Question 6

Neutropenia

Answer 6

lack of neutrophils

Question 7

Kostmann Syndrome

Answer 7

Autosomal dominant

ELANE mutation - neutrophil doesn’t leave bone marrow

Question 8

Treatment of Kostmann syndrome

Answer 8

GCSF

granuloma colony stimulating factor

Question 9

Leukocyte Adhesion Deficiency

Answer 9

Autosomal recessive

- Neutrophils cant bind to adhesion molecules

Question 10

Chronic granulomatous disease

Answer 10

• NADPH complex deficiency
  can’t produce Reactive oxygen species
  Recurrent infection + granulomas

Question 11

Transient hypogammaglobulinaemia

Answer 11

Period of child vulnerability
- doesn’t produce own IgG
Mothers IgA decreasing

Question 12

SCID

Answer 12

severe combined immunodeficiency

Question 13

features of SCID

Answer 13

failure to thrive

recurrent infections

Question 14

X linked SCID

Answer 14

Mutation on IL-2 receptor

failure to produce T cells + NK + immature B cells

Question 15

Brutons x linked hypogammaglobulinaemia

Answer 15

no circulating B cells

no antibodies

Question 16

IFN gamma deficiencies

Answer 16

Th1 doesn’t enhance macrophage phagocytosis

- chronic infection + granulomas