Classification of Primary Immune Deficiency Syndromes
Disorders of Specific Immunity
Humoral Immuno Deficiencies B Cell Defects
Disorders of Complement Complement Component deficiencies Complement Inhibitor deficiencies
Cellular Immuno Deficiencies T Cell Defects
Combined Immuno Deficiencies B & T Cell Defects
Disorders of Phagocytosis Chr. Granulomatous Disease Myeloperoxidase Deficiency Chediac- Higashi Syndrome Leucocyte G6PD Deficiency Job’s Syndrome Tuftsin deficiency Lazy Leucocyte Syndrome Hyper IgE Syndrome Actin binding protein deficiency Shwachman’s disease
Immunodeficiency Diseases • Patient unable to fight off infection • Hall marks – Repeated infections – Opportunistic infections
Immunodeficiency Diseases • Most are defects in T cells or B cells – T cells, Macrophage defects = Fungal, Viral, protozoal infections – B cells, Complement defects = Bacterial infections
Immunodeficiency Diseases • Congenital • Acquired
Congenital • • • •
B cell deficiency IgA deficiency DiGeorge’s Syndrome Severe Combined Immunodeficiency (SCID)
B Cell deficiency • Agammaglobulinemia • Hypogammaglobulinemia
IgA deficiency • • • •
Most common immune deficiency disorder Genetic condition Failure of IgA synthesis Patients have repeated, recurrent sinus, lung, GI infections
DiGeorge’s Syndrome • Thymic hypoplasia • Severe decrease in T-cell production & function • Defects in face, ears, heart.
Severe Combined Immunodeficiency • Thymus development arrested at ~ 6-8 weeks gestation. • Deficiency, defective maturation of stem cells that produce B & T cells. • Little to no antibody production.
SCID • Recurrent, frequently overwhelming infections • Particularly respiratory and gastrointestinal • Most die in first few years of life, usually by one year of age • Death usually due to opportunistic infection
Inherited Functional Disorders • Disorders of Granulocyte Function – Job’s syndrome – directional motility is impaired – recurrent boils and abscesses – Lazy Leukocyte Syndrome – random and directed movement are defective – cells fail to respond to inflammatory stimuli – mild symptoms of low grade fever, recurrent infections (gums, mouth, ears) – Chediak-Higashi – abnormal granule release
Inherited Functional Disorders • Congenital C3 deficiency – inability to ingest microorganisms- repeated severe infections with encapsulated bacteria • Chronic Granulomatous Disease – inability to kill catalase positive organisms – recurrent pyogenic infection • Leukocyte Glucose-6-Phosphate Dehydrogenase Deficiency – similar to CGD Myeloperoxidase Deficiency-benign – slow bacterial killing, but complete
B Cell Disorders • Infantile sex-linked agammaglobulinemia Recurrent bacterial infections All classes of immunoglobulin are low All lymphocytes are T cells Treat with antibiotics and gamma globulin
• Common Variable hypogammaglobulinemia One or a combination of immunoglobulins is missing Inability of B cells to mature/function as plasma cells Excessive production/activity of T suppressor cells
Monocyte-Macrophage Disorders • Mucopolysaccharidoses – deficiencies in specific enzymes to degrade mucopolysaccharides (Hurley syndrome, Hunter syndrome: gargoylism) • Lipidoses: lipid storage diseases – macrophages become overloaded with lipids (Gaucher, Niemann-Pick, TaySachs)
Jun 10, 2016 - (MSM) in Clinical Settings: Updated Recommendations. Subject of Planned Report: This report will outline the current scientific data regarding ...
Email: paelimd@ nus.edu.sg ... immunological services for diagnosis and management. Although they ... The case records of these patients were retrospectively.
(oral doses 5 times daily during pregnancy, intravenous admin- istration to the mother ... network of STI treatment clinics for education about HIV/. AIDS and ...
Springer Science+Business Media, LLC 2010. Abstract It is now well established that the ..... amount of material still available after DNA analysis and antibody detection. For fecal. DNA extractions, we used ... them directly using the inner primers
replication, namely how the virus recognizes and enters the target cell, the ... into active regions of the cellular genome ..... Best S., Tissier P., Towers G. et al.
study of host immune system or the discovery of effective drugs2,3. Viral-host protein-protein interactions (PPIs) are oc- casionally analyzed in the former ...