immunodeficiency

Question 1

Primary Immunodeficiency disorders

Answer 1

-Bruton’s agammaglobulinemia
-Thymic aplasia
(Di George’s syndrome)
-Severe combined immunodeficiency disease (SCID)
-Hereditary angioedema
-Chronic granulomatous disease (CGD)

Question 2

Bruton’s agammaglobulinemia

Answer 2

Specific Deficiency:Absence of B cells Very low Igs levels
Molecular Defect:Mutant tyrosine kinase
Clinical features: Recurrent bacterial infections of RT, Pyogenic bacterial infections

Question 3

Thymic aplasia
(Di George’s syndrome)

Answer 3

Specific Deficiency:Absence of T cells
Molecular Defect:Defective development of pharyngeal pouches
Clinical features:Viral, Fungal, Protozoal linfections,Tetany

Question 4

Severe combined immunodeficiency disease (SCID)

Answer 4

Specific Deficiency:Deficiency in both T and B cells function
Molecular Defect:Defective IL-2 receptor, defective recombinases, absence of MHC II, ADA or PNP deficiency
Clinical features:Bacterial, Viral, Fungal, Protozoal infections,

Question 5

Hereditary angioedema

Answer 5

Specific Deficiency:Deficiency of complement
Molecular Defect:Deficiency of C1 inhibitor Increased C4a,3a,4a
Clinical features:Edema, esp. laryngeal edema

Question 6

Chronic granulomatous disease (CGD)

Answer 6

Specific Deficiency:Defective bactericidal activity (No oxidative burst)
Molecular Defect:Deficient NADPH oxidase activity
Clinical features:Pyogenic bacterial infection (S.aureus & Aspergillus)

Question 7

B cell Deficiencies

Answer 7

Selective Immunoglobulin A Deficiencies

Question 8

T cell deficiencies

Answer 8

Chronic mucocutaneous candidiasis
▪ Hyper-IgM syndrome
▪ Interleukin-12 receptor
deficiency

Question 9

SCID

Answer 9

▪ Wiskott-Aldrich Syndrome
▪ Ataxia- Telangiectasia

Question 10

Complement deficiencies

Answer 10

Recurrent infections
▪ Autoimmune Diseases
(SLE)
▪ Paroxysmal Nocturnal
hemoglobinuria

Question 11

Phagocytic Deficiencies

Answer 11

▪ Chediak Higashi Disease
▪ Job’s syndrome (hyper
IgE syndrome
▪ Leukocyte Adhesion
Deficiency syndrome
▪ Cyclic Neutropenia
▪ Myeloperoxidase
Deficiency
▪ Interferon Gamma
Receptor Deficiency
▪ Pattern Recognition
Receptor Deficiency

Question 12

Secondary Immunodeficiency disorders

Answer 12

-Common variable hypogammaglobulinemia
-AIDS
-Liver failure
-Neutropenia

Question 13

AIDS

Answer 13

Specific Deficiency:CD4 count reduced, CD8 count is higher (T cells)
Molecular Defect:Virus kills CD4 cells
Clinical features:Opportunistic infections, Tumours
Prone for infections