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Immunodeficiency Diseases: Presented by
Immunodeficiency Diseases: Presented by
presented by
Immunodeficiency
primary Secondary
What is Immunodeficiency?
A failing of one or more of the body’s defensive
mechanisms resulting in morbidity or mortality.
Any part of the immune system can be deficient
cells, proteins, signalling mechanisms…….
The body is susceptible to infection by organisms
that meet with little or no resistance.
Or, in certain cases, other homeostatic systems in
the body will be disrupted by the defect.
Severity is variable.
Immunodeficiency may be Primary or Secondary.
Primary or
Congenital
Immunodeficiency
Secondary Immunodeficiency:
Infection
Renal failure, or protein losing enteropathy
Leukaemia or Lymphoma
Myeloma
Extremes of age
Certain Drug Therapies
Clinical features associated with
immunodeficiency
Feature frequency present and highly
suspicious:
Chronic infection
Recurrent infection (more than expected)
Unusual microbial agents
Incomplete clearing of infection
Incomplete response to treatment
Clinical features associated with
immunodeficiency
Feature moderately suspicious
Diarrhea (chronic)
Growth failure
Recurrent abscesses
Recurrent osteomyelitis
Feature associated with specific
immunodeficiency disorder
Telangiectasia
Partial albinism
IMMUNODEFICIENCIES
SPECTRUM OF IMMUNE
RESPONSIVENESS
Protectiv Self-
e Toleranc
Immunity e
HEALTH
Immune
Positive Negativ
Respons e
e
DISEASE
AutoImmunity Immunodeficien
Hypersensitivity cy
Basten. In: The Autoimmune Diseases, Acad. Press, 1998
Immunodeficiencies
6 weeks gestation
DiGeorge’s Syndrome (Thymic Hypoplasia)
Partial or complete loss of:
• the thymus - absent or
reduced T cells;
mycobacterial, viral, fungal
infections (severity depends
http://www.osel.cz/
Am J Ophthalmol 2002,
(speech defects), characteristic eye movement
abnormalities – become wheelchair-bound early in
life
• ocular telangiectasia (dilated blood vessels of the
134:891
eye), spider angiomas
Conjunctival
vascular
telangiectasia in
patients with A-T
(nasal and temporal
interpalpebral
conjunctiva).
Ataxia-Telangiectasia (A-T)
• In addition to ataxia and
telangiectasias, the genomic
instability in the A-T patients
leads to extreme
EMBO Rep 2004, 2:772
radiosensitivity, sterility,
tumors, and
immunodeficiency
• Effects both T and B cells.
Decreased or absent IgA
leading to recurrent
respiratory infections,
although severe
infections are rare. Gamma-globulin bacterial
injections mayorbe
given to help supplementviral opportunistic
the weakened immune
system.
Phagocytic Defects
phagocytes = neutrophils and
macrophages
Characteristics
• Bacterial, fungal, viral and protozoal
infections
• Skin infections, chronic osteomyelitis
(Klebsiella/Serratia)
• Defective killing mechanisms, inability to
phagocytose, or reduced numbers of
phagocytes.
Chronic Granulomatous Disease
• X-linked defect in phagocytic cells
• Mutations in phagocyte NADPH oxidase system
resulting in defective production of superoxide (O2-)
and peroxide (H2O2) that are normally involved in killing
bacteria (oxidative burst).
• Leukocytes fail to kill bacteria in vitro.
• Early onset - by 2 to 5 years of age.
• Severe recurrent fungal and bacterial infections,
frequently fatal.
• granulomas in the skin, GI tract, and genitourinary tract
Chediak-Higashi Syndrome
• Microtubular and lysosomal defect of
phagocytes, resulting in defective
phagocytosis and lysosomal dysfunction
in lymphocytes, neutrophils, macrophages
• Recurrent pyogenic infections
(strep and staph)
• Platelet function is abnormal – prolonged
bleeding time, easy bruisability