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Disorders of Immunity Immunodeficiency Diseases. Professor Sudheer Kher. Classification of Primary Immune Deficiency Syndromes. Disorders of Phagocytosis Chr. Granulomatous Disease Myeloperoxidase Deficiency Chediac- Higashi Syndrome Leucocyte G6PD Deficiency Job’s Syndrome

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Presentation Transcript
Classification of Primary Immune Deficiency Syndromes

Disorders of


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

  • Disorders of
  • Complement
  • Complement
  • Component deficiencies
  • Complement
    • Inhibitor deficiencies

Disorders of Specific





B & T Cell





B Cell Defects




T Cell Defects

immunodeficiency diseases
Immunodeficiency Diseases
  • Patient unable to fight off infection
  • Hall marks
    • Repeated infections
    • Opportunistic infections
immunodeficiency diseases1
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 diseases2
Immunodeficiency Diseases
  • Congenital
  • Acquired
  • B cell deficiency
  • IgA deficiency
  • DiGeorge’s Syndrome
  • Severe Combined Immunodeficiency (SCID)
b cell deficiency
B Cell deficiency
  • Agammaglobulinemia
  • Hypogammaglobulinemia
iga deficiency
IgA deficiency
  • Most common immune deficiency disorder
  • Genetic condition
  • Failure of IgA synthesis
  • Patients have repeated, recurrent sinus, lung, GI infections
digeorge s syndrome
DiGeorge’s Syndrome
  • Thymic hypoplasia
  • Severe decrease in T-cell production & function
  • Defects in face, ears, heart.
severe combined immunodeficiency
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.
  • Two types
    • Autosomal recessive
    • X-linked disease recessive
  • 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
  • Nutritional
  • Iatrogenic (drugs, radiations)
  • Trauma (prolonged hypoperfusion)
  • Stress
  • Infections (HIV)
  • Malignancies
immune deficiency therapies
Immune Deficiency Therapies
  • B-cell deficiency : Gamma globulin
  • SCID : Bone marrow transplant, enzyme replacement
  • DiGeorge’s Syndrome : Fetal thymus transplant
  • Gene therapy
inherited functional disorders
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 disorders1
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
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
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, Tay-Sachs)