Disorders of Immunity Immunodeficiency Diseases

Professor Sudheer Kher

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 • Two types – Autosomal recessive – X-linked disease recessive

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

Acquired • • • • • •

Nutritional Iatrogenic (drugs, radiations) Trauma (prolonged hypoperfusion) Stress Infections (HIV) Malignancies

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 • 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)

Mouse found on Mars!

Immunodeficiency Diseases_SKK.pdf

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