Primary immunodeficiencies- mine

Question 1

What is immunodeficiency?

Answer 1

Defects in one or more components of the immune system can lead to serious and often fatal disorders,

Question 2

What is the major consequence of immunodeficiency?

Answer 2

PRONE TO INFECTION

Question 3

What are the subcategories of immunodeficiency?

Answer 3

• Primary
• Secondary
  Both can affect the innate and the adaptive system

Question 4

what is the main cause of primary immunideficiencies

Answer 4

MUTATIONS ]

although some can be caused by viral infections or tumours

Question 5

Abnormalities in the innate system which lead to disease?

Answer 5

• phagocyte defects

- Complement defects

Question 6

what are the most common phagocyte defects?

Answer 6

• chronic granulomatous disease
• Leucocyte adhesion deficiency
• Myeloperoxidase

Question 7

what is the most common disease associated with complement defects?

Answer 7

Hereditary angioedema

• autosomal dominant condition associated with painless, non-pitting, non-erythematous swellings in subcutaneous tissue.
• due to inability to turn off Complement pathway

Question 8

what are the deficiencies in the adaptive immune system which can lead to immunodeficiency?

Answer 8

• SCID
• Predominant antibody deficiencies
• Predominant T- cell deficiencies
• combined immunodeficiencies

Question 9

How are antibody deficiencies subdivided?

Answer 9

o	All classes 
o	Single class : IgA deficiency 
o	Subclass : IgG2 deficiency 
o	Single specificity of antibodies: anti-pneumococcal antibodies 
o	Combinations

Question 10

Give 2 examples of T cell deficiency associated disease?

Answer 10

• Di George syndrome

- Chronic muco-cutaneos candiasis

Question 11

Presentation of Di-george

Answer 11

CATCH-22 
Cardio abnormality 
Abnormal face 
Thymic hypoplasia 
Cleft palate 
Hypocalcemia

Question 12

what is the difference between a mutation, a polymorphism and a polygenism

Answer 12

Mutation: alteration of a DNA sequence
Polymorphism: alteration of 2 or more variants on a sequence on a DNA
Polygenism: Alteration of more than one gene.

Question 13

What infections manifest in an antibody defect?

Answer 13

• staph
• step
• Haemophilius

Question 14

what infection is likely to manifest in T cell defect?

Answer 14

Opportunistic viruses: CMV, Herpes

Opportunistic protozoa: Penumocystitis, Cryposporidiosis