2. • Primary immunodeficiency disorders are
classified according to the component of the
immune system that is primarily involved.
• Primary immunodeficiency disorders (PIDs)
are usually rare with a prevalence of 1:10,000
live births
3. • Defects in the adaptive immune responses
include antibody deficiency syndromes and
combined immunodeficiencies.
• Defects of innate immunity comprise
disorders of phagocytes, toll-like receptor
(TLR) mediated signalling and complement.
4. • The prime characteristic of a PID is an
increased susceptibility to infections, but
some forms can present with immune
dysregulation leading to autoimmune and
rheumatological illnesses.
7. The organisms most commonly isolated from
the joint :
1. Staphylococcus aureus (Most common).
2. Streptococcus pneumoniae (Most common).
3. Mycoplasma spp.(Antibody defects)
4. Ureaplasma urealyticum.(Antibody defects)
5. Enteroviruses.
6. Pneumocystis jirovecii.
7. Chlamydia pneumoniae (CVID)
8. Adenovirus type 1 (CVID)
8. • Most common presentation:
Monoarthritis or oligoarthritis
Treatment
1. S. aureus : Vancomycin
2. Mycoplasma : Tetracycline
3. Other organisms: Third-generation
cephalosporin
9. Aseptic arthritides
• Aseptic arthritis is the term used when no
organism can be isolated from the synovial
fluid or the synovial biopsy.
• Polyarthritis is the usual presentation.
• Could be sequelae of recurrent bacterial and
parasitic infections in patients with PIDs or
could be part of the autoimmune spectrum of
disease associated with PIDs
10. • Intravenous immunoglobulin is effective in
most cases.
• Tumour necrosis factor-α receptor antagonist,
etanercept, has also been found efficacious in
CVIDs.
11.
12. Autoimmune manifestations
Autoimmune manifestations in complement
deficiency :
1. Lupus-like illness presenting with rash and
vasculitis ( C4 ,C2 deficiency)
2. The most effective screening test for
complement defects is a CH50 assay.
3. Genetic deficiencies in the complement
system are usually characterized by
extremely low CH50 values.
13. • Most patients with primary C1q deficiency
have systemic lupus erythematosus (SLE), an
SLE-like syndrome without typical SLE
serology, a chronic rash that has shown an
underlying vasculitis on biopsy, or
membranoproliferative glomerulonephritis
(MPGN).
14. • Individuals with C1r, C1s, combined C1r/C1s,
C4, C2, or C3 deficiency also have a high
incidence of autoimmune syndromes,
especially SLE or an SLE-like syndrome in
which antinuclear antibody level is not
elevated.
15. • Complete deficiency of only C4A, present in
about 1% of the population, also predisposes
to SLE, though C4 levels are only partially
reduced.
• A few patients with C5, C6, C7, or C8
deficiency have SLE.
• Individuals with SLE and a complement defect
generally respond as well to therapy as those
without complement deficiency
16. • Henoch–Schonlein purpura( c4) ,
Dermatomyositis, scleroderma and vasculitis
have also been reported with early
complement deficiencies.
• Patients with defect in late complement
component usually present with recurrent
invasive infections due to encapsulated
organisms.
17. Autoimmune manifestations in CVID
• 1–3% patients with CVID may develop SLE.
• In 67% patients, the SLE activity decreased,
apparently attributable to a significant loss of
B cells leading to SLE remission.
• The IVIg is safe and ameliorates joint disease
in these patients.
• Hydroxychloroquine is safe and modestly
effective.
18. Autoimmune manifestations in IgA
deficiency:
• Juvenile idiopathic arthritis (JIA) and SLE are
known to occur in higher frequencies in
patients with selective IgA deficiency.
• Arthritis resembling juvenile idiopathic
arthritis is a common manifestation of PIDs,
especially of XLA and Wiskott–Aldrich
syndrome. Up to 30% patients with Wiskott–
Aldrich syndrome may present with JIA-like
disease.
