Primary Immune Deficiency

Question 1

What is the hallmark of Primary Immunodeficiency Diseases?

Answer 1

Infections :

1. Recurrent.
2. Unusually Persistent.
3. Resistant to Treatment.
4. Unusual Organisms.
5. Unexpected Spread.

Question 2

Complications of Primary Immune Deficiency Diseases.

Answer 2

1. Infections.
2. Increased Predisposition to Autoimmune Disease.
3. Malignancy - Lymphoproliferative Disease.

Question 3

What is Common Variable Immune Deficiency caused by?

Answer 3

Genetic mutation in genes coding for components of B cells - deficiency in IgG/IgA with/without deficiency in IgM.

Question 4

Clinical Presentation of Common Variable Immune Deficiency (3).

Answer 4

1. Recurrent RTIs - Chronic Lung Disease Eventually.
2. Inability to Develop Immunity to Infections/Vaccinations.
3. Rheumatoid Arthritis, Non-Hodgkin’s Lymphoma.

Question 5

Management of Common Variable Immune Deficiency (2).

Answer 5

1. Regular Ig Infusions.

2. Treat infections and complications as they occur.

Question 6

What is X-Linked Agammaglobulinaemia?

Answer 6

Bruton’s Agammaglobulinaemia - X-Linked Recessive : Abnormal B cell Development and deficiency in all classes of Immunoglobulins.

Question 7

Clinical Presentation of X-Linked Agammaglobulinaemia.

Answer 7

Similar to Common Variable Immune Deficiency.

Question 8

What is Hereditary Angioedema?

Answer 8

C1 Esterase Inhibitor Deficiency - Autosomal Dominant Condition.

Question 9

Pathophysiology of Hereditary Angioedema (3).

Answer 9

1. Bradykinin promotes blood vessel dilation and vascular permeability - leading to angioedema.
2. C1 Esterase Inhibits Bradykinin.
3. Deficiency = Intermittent Angioedema in response to minor triggers.

Question 10

Management of Hereditary Angioedema (2).

Answer 10

1. IV C1 INH - Prophylaxis before Surgery/Dental or Acute Management.
2. FFP if IV C1 INH not available.

Question 11

Bloods in Hereditary Angioedema (2).

Answer 11

1. Low C1-INH During Attack.

2. C4 - Most Reliable = Low Between Attacks.

Question 12

What is Severe Combined Immunodeficiency?

Answer 12

Most severe condition causing immunodeficiency - almost no immunity - a syndrome caused by a few genetic disorders.

Question 13

Clinical Presentation of SCID.

Answer 13

1. 1st Few Months :
2. Persistent Severe Diarrhoea.
3. Failure to Thrivee.
4. Opportunistic Infections and After Live Vaccinations.
5. Omenn Syndrome.

Question 14

Aetiology of SCID.

Answer 14

X-Linked Recessive : Mutation in Common Gamma Chain on X chromosome coding for IL receptors on T and B cells.

Question 15

Clinical Features of Omenn Syndrome (3).

Answer 15

1. Erythroderma - Red Scaly Rash.
2. Alopecia.
3. Hepatopslenomegaly.

Question 16

Management of SCID (3).

Answer 16

1. Ig Therapy - Sterile Environment.
2. No LIVE Vaccines.
3. Haematopoietic Stem Cell Transplantation.

Question 17

Aetiology of Chronic Granulomatous Disease.

Answer 17

Lack of NADPH Oxidase - Reduced Ability for Phagocytes to produce ROS.

Question 18

Clinical Presentation of CGD (2).

Answer 18

1. Recurrent Pneumonias.

2. Abscesses.