Immunodeficiency disorders
Immunodeficiency may be due to
causes that are:
•
Primary: intrinsic abnormalities.
•
Secondary: cancer, immunosuppressive
agents, HIV infection, splenectomy,
nephrotic syndrome, SCD, etc.
Caused by defects in the
following.
•
X-linked agammaglobulinaemia: presents in early childhood with severe bacterial infections
•
Hyper IgM syndrome: presents with bacterial infection
and PCP
•
IgG subclass deficiency: minor immunodeficiency that may
cause recurrent respiratory infection
Tests
Immunoglobulin levels and
functional vaccine responses as indicated
by clinical presentation
Severe
combined immunodeficiency (SCID) Presents in first few months.
Failure to thrive. Persistent infection due to viruses and fungi
Tests FBC, blood film, lymphocyte subsets and function
Leucocyte
adhesion deficiency Presents
in infancy with delayed healing of
the umbilical cord, chronic skin ulcers, bacterial and fungal infection
involving lymph nodes, liver, and lung
Tests
Assessment of chemotaxis,
neutrophil surface adhesion molecules, and
killing (e.g. neutrophil oxidative burst test for chronic granuloma-tous
disease)
Complement
deficiency or mannose binding lectin deficiency Rare, but may present with severe meningococcal disease
Tests
Complement levels, TOLL receptor
pathway assays (second line tests
directed by clinical presentation)
•
Ataxia telangiectasia: skin, neurological, and immune
defects
•
Wiskott–Aldrich syndrome: eczema, thrombocytopenia, and immunodeficiency
•
DiGeorge syndrome: hypocalcaemia, branchial arch and
heart defects, and immunodeficiency
•
Duncan syndrome: X-linked lymphoproliferative
disease due to prior EBV infection
Tests
Chromosomal fragility, genetic
polymorphisms
The investigation for these
conditions in children with a history of recur-rent or severe infection
requires a broad screen of tests, which can be directed by the type of
infection (e.g. viral, bacterial, fungal).
A variety of therapies is required
for children with primary immunode-ficiency and they should be cared for in
designated centres. Therapy in-cludes:
•
prophylactic
antibiotics;
•
supportive
care and antibiotics for acute infections;
•
replacement
immunoglobulins and additional immunization;
•
bone
marrow transplantation;
•
gene
therapy (future).
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