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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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Disorders of Immunity Immunodeficiency Diseases

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Disorders of immunity immunodeficiency diseases
Disorders of ImmunityImmunodeficiency Diseases

Professor Sudheer Kher

Disorders of immunity immunodeficiency diseases

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.

Disorders of immunity immunodeficiency diseases

  • Two types

    • Autosomal recessive

    • X-linked disease recessive

Disorders of immunity immunodeficiency diseases

  • 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)

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