Immunodeficiencies

Question 1

What causes primary immune deficiencies?

Answer 1

Single genetic disorders

Question 2

What are the warning signs of primary immune deficiencies?

Answer 2

Severe
Persistent
Unusual
Recurrent
Family history

Question 3

What are the types of primary immune deficiency?

Answer 3

Antibody deficiencies
Cellular immunodeficiencies
Innate immune disorders

Question 4

What causes antibody deficiencies?

Answer 4

Defective B cell function or absence of mature B cells

Question 5

What are the common symptoms of antibody deficiencies?

Answer 5

Recurrent bacterial infections of respiratory tract

Question 6

What are the common infective organisms in antibody deficiencies?

Answer 6

S. pneumoniae

H. influenzae

Question 7

What causes cellular immunodeficiencies?

Answer 7

Impaired T cell function or absence of normal T cells

Question 8

What are the clinical features of cellular immunodeficiencies?

Answer 8

Unusual or opportunistic infections

Failure to thrive

Question 9

What is 22q11 syndrome?

Answer 9

Microdeletion syndrome causing cellular immunodeficiencies

Question 10

What are the common clinical features of 22q11?

Answer 10

Congenital cardiac anomalies
Palatal deefcts
Immunodeficiency
Learning difficulties
Characteristic face

Question 11

What are the immune issues in 22q11?

Answer 11

Thymus a-/hypo-plasia
Recurrnent RTIs
Autoimmune conditions in 30%

Question 12

What is the management of 22q11 immune issues?

Answer 12

Thymus transplant

Question 13

What are the causes of innate immune disorders?

Answer 13

Defects in phagocyte function
Complement deficiencies
Absence or polymorphisms in pathogen recognition receptors

Question 14

What are the clinical features in defects in phagocyte function?

Answer 14

Sepsis
Skin lesions
Abscesses
Lung, brain or bone infections

Question 15

What are the common causative organisms in phagocyte dysfunction?

Answer 15

S. aureus

Aspergillus infection

Question 16

What is the common causative organism in complement deficiencies?

Answer 16

N. meningitides

Question 17

What is hereditary angioedema?

Answer 17

C1 inhibitor deficiency

Question 18

What are the clinical features of chereditary angiodema?

Answer 18

Recurrent episodes of painless, non pitting, non erythematous swelling of subcutaneous tissues, intestines, oropharynx

Question 19

What is the management of hereditary angioedema?

Answer 19

Emergency- laryngeal/oharyngeal obstruction, acute abdominal pain
C1 inhibitor infusion or FFP

Question 20

What is the general management of primary immune deficiencies?

Answer 20

Symptomatic
Prophylaxis
Genetic counselling and prenatal diagnosis
Causative treatment

Question 21

What are some options for causative treatment in primary immunodeficiency?

Answer 21

Ig substitution
Gene therapy
Stem cel tranplant
Thymus transplant

Question 22

What are secondary immune deficiencies?

Answer 22

Acquired diseases affecting immune system and/or treatment negatively influencing immune system

Question 23

What are the causes of secondary immune deficiency?

Answer 23

Environmental
Iatrogenic
Disease

Question 24

What are some environmental causes of secondary immune deficiency?

Answer 24

Malnutrition
Trauma
Burns

Question 25

What are some iatrogenic causes of secondary immune deficiencies?

Answer 25

Splenectomy

Drugs- immunosuppressive, anti-rheumatic, anti-epileptic

Question 26

What are some diseases that can cause secondary immune deficiencies?

Answer 26

Infection
DM
Renal failure
Malignancy