Primary Immunodeficiency
·
Most single gene disorders: range
of effects e.g. antibody or complement deficiencies
·
Clinical features:
o Highly suspicious: chronic, recurrent or unusual infections, incomplete response to treatment
o Moderately suspicious: skin rash (eczema, candida), diarrhoea, growth
failure, recurrent abscesses, hepatosplenomegaly
· Different infections associated with different disorders
o ¯Antibodies:
sino/pulmonary/gut problems
o ¯CMI:
multisystem (e.g. CMV), pulmonary (PCP, aspergillus, candida), viruses (e.g.
Herpes)
o Phagocytic problems: s. aureus
o ¯Complement:
recurrent neisserial infection
·
Symptoms depend on where in the
lineage the defect is:
o Stem cell: eg SCID
o Pre-B cell: X Linked Agammaglobulinaemia
o Maturation Defect: eg can‟t switch from IgM to IgG
·
Prevalence 1 in 20 – 50,000
·
Symptomatic at 15 – 35 years (but
long diagnostic delay)
·
Recurrent pyogenic
problems/autoimmune features/respiratory infections
·
GI infections: giardia,
campylobacter, HCV
·
Normal B cells: but defect in
maturation – no plasma cells
· Treatment: iv Ig (e.g. Intragam), prophylactic antibiotics
·
E.g. x-linked SCID (Severe
Combined Immunodeficiency), Adenosine deaminase (ADA) deficiency
·
Diagnosis of primary antibody
deficiencies:
o Serum Ig‟s
§ Quantitative measurement essential (electrophoresis insensitive)
§ Severe hypogammaglobulinaemia: serum IgG level below 3 g/L in adults
o Response to vaccination (important test)
§ Tetanus and Pneumo-Vax
§ Do baseline, vaccinate, expect 4 times at 4 weeks
o IgG subclass concentrations: interpretation difficult. Based on
lymphocyte count. E.g. if lymphocytes normal then primary, if low lymphocytes
then ?SCID
o Lymphocyte Subsets:
§ Absence of B cells in Brutons
§ CVID: up to 30 % have T cell reductions
§ CLL - CD5+ B cells
·
IgA Deficiency (most common
genetic deficiency)
o Approx 1 in 700
o ®
Respiratory & GI infections
o Risk of anaphylaxis with blood products due to reaction to exogenous IgA
o Don‟t treat with Ig
o Runs in families with CVID
o Can be associated with:
§ IgG subclass abnormalities
§ Impaired responses to vaccination
· Opsionisation: attachment of C3 to immune complexes
·
¯C3 ® pyogenic infections due to ¯ lysis
·
E.g. severe congenital
neutropenia, chronic granulomatous disease, IFN gamma receptor deficiency
·
Can test for chemotaxis,
adherence and phagocytic function
·
Management: specific antibodies,
G-CSF in neutropenia, etc
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