IHO - Immune problems

Question 1

X linked (bruton’s) agammaglobulinemia

Answer 1

X linked
Defect in BTK (tyrosine kinase)
No B cell Maturation -> lack of Immunoglobin
present 6 months

Question 2

Selective IgA Deficiency

Answer 2

Most common primary immune def
Sinupulmonary/mucosal pathogens
IgM, IgG normal
False + HcG

Question 3

Common variable immune def (CVID)

Answer 3

defective B and helper T (bacteria, enterovirus, giardia)
Low plasma cell -> low Ig
Lymphoma risk

Question 4

Digeorge syndrome

Answer 4

T cell deficiency - lack of thymus
3rd and 4th pharyngeal pouch failure 22q11 deletion
- hypo calc as well

Question 5

Severe Combined Immunodef (SCID) (3 kinds)

Answer 5

fungal/viarl/bacterial/protozoa

• Cytokine receptor defects- lack of prolif of T and B cells
• Adenosine deaminase deficiency - toxic build up of adenosine and deoxyadenosine
• MHC Class II deficiency - CD4 need

Question 6

Hyper IgM Syndrome

Answer 6

• elevated IgM
• Mutated CD40L on helper T cells or CD 40 on receptor B cells
• Low IgA, IgG, IgE -> pyrogenic infections

Question 7

Wiskott Aldrich Syndrome

Triad

Answer 7

Triad
-Thrombocytopenia, eczema, recurrent infection
Mutation in WASP gene - X linked

Low IgM; High IgE and IgA

Question 8

Complement Deficiency

Answer 8

C5-C9 -> increased Neisseria risk

Question 9

C1 inhibitor deficiency

Answer 9

loss of control
hereditary angiodema -
-especially periorbital and mucosal surfaces