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Immunodeficiency Disease

  1. Conditions where the defence mechanisms of the body are impaired.
  2. Repeated microbial infections of varying severity.
  3. Primary immunodeficiencies result from abnormalities in the development of the immune mechanisms.
  4. Secondary immunodeficiencies are consequences of disease, drugs, nutritional inadequacies and other processes that interfere with the proper functioning of the mature immune system. 

A.  Humoral immunodeficiencies X-linked agammaglobulinemia:

  1. It is seen only in male infants.
  2. Presents as recurrent serious infections with pyogenic bacteria, particularly with pneumococci, streptococci etc.
  3. Live microbial vaccines should not be given to children with any type of primary immunodeficiency.
  4. All classes of immunoglobulins are grossly depleted in the serum the IgG level being less than a tent, and IgA and IgM less than a hundredth of the normal level.
  5. Tonsils and adeoids are atrophic
  6. Plasma cells and germinal centres are absent even after antigenic stimulation. There is a marked decrease in the proportion of b cells in circulation.
  7. antibody formation does not occur even after injections of antigens.
  8. Its management consists of the maintenance of an adequate level of immunoglobulins. 

B. Table; Classification of primary immunodeficiency syndrome.

  1. Disorders of specific immunity

a.  Humoral immunodeficiencies (B cell defects)

  1. X-linked agammaglobulinemia
  2. Transient hypogammaglobulinemia of infancy
  3. common variable immunodeficiency (Late onset hypogammaglobulinemia)
  4. Selective immunoglobulin deficiency (IgA, IgM or IgG subclasses)
  5. Immunodeficiencies with hyper-IgM
  6. Transcobalamin II deficiency

b.  Cellular immunodeficiencies ( T cell defects)

  1. Thymic hypoplasia (Digeorge’s syndrome)
  2. Chronic mucocutaneous candidiasis
  3. Purine nucleoside phosphorylase (PNP) deficiency.

c.   Combined immunodeficiencies (B and T cell defects)

  1. Cellular immunodeficiency with abnormal immunoglobulin synthesis (Nezelof syndrome)
  2. Ataxia telangiectasia
  3. Wiskott-aldrich syndrome
  4. Immunodeficiency with thymoma
  5. Immunodeficiency with short – limbed dwarfism
  6. Episodic lymphopenia with lymphocytotoxin
  7. Severe combined immunodeficiencies
  • ‘Swiss type’ agammaglobulinemia
  • Reticular dysgenesis of de Vaal
  • Adenosine deaminase (ADA) deficiency

2.  Disorder of complement

  1. Complement component deficiencies
  2. Complement inhibitor deficiencies

3.  Disorder of phagocytosis

  1. Chronic granulomatous disease
  2. Myeloperaoxidase deficiency
  3. Chediak-Higashi syndrome
  4. Leucocyte G6PD deficiency
  5. Job’s syndrome
  6. Tuftsin deficiency
  7. Lazy leucocyte syndrome
  8. Hyper-IgE syndrome
  9. Actin binding protein deficiency
  10. Shwachman’s disease  

C.  Transient Hypogammaglobulinemia of Infancy

  1. Abnormal delay in the initiation of IgG synthesis in some infants.
  2. Recurrent otitis media and respiratory infections
  3. The common diseases found in this condition. 

D. Common Variable Immunodeficiency

  1. Also known as late onset hypogammaglobulinemia.
  2. Usually manifests only by 15-35 years of age
  3. Recurrent pyogenic infections and an increased incidence of autoimmune disease.
  4. Malabsorption and giardiasis are common
  5. The total immunoglobulin level is usually less than 300 mg per 100 ml.
  6. IgG less than 250 mg per 100 ml.
  7. Appear defective in their inability to differentiate into plasma cells and secrete immunoglobulins.
  8. Treatment is by administration of gamma globulin preparations intramuscularly or intravenously. 

E.  Selective immunoglobulin Deficiencies

  1. Isolated IgG deficiency is the most common condition in this group, with a reported incidence of about 0.2 percent in normal population.
  2. Patients exhibit increased susceptibility to respiratory infection and steatorrhea.
  3. Associated with septicemia. 

F.  Immunodeficiencies with hyper IgM

  1. Patients show enhanced susceptibility to infections and autoimmue processes such as thrombocytopenia, neutropenia, hemolytic anemia and renal lesions.
  2. Some patients develop malignant infiltration with IgM-producing cell.
  3. Elevateed IgM level with immunodeficiency is sometimes seen in congenital rubella. 

G. Cellular immunodeficiencies. Thmic hypoplasia (digeorge’s syndrome)

  1. Developmental defect involving the endodermal derivatives of the third and fourth pharyngeal pouches.
  2. aplasia or hypoplasia of the thymus and parathyroid glands.
  3. Associated with fallot’s tetrology and other anomalies of the heart and the great vessels, and a characteristic facial appearance.
  4. Neonatal tetany is present.
  5. Immunodeficiency primarily involves cell mediated immunity.
  6. The thymus dependent areas of lymph nodes and spleen are depleted of lymphocytes.
  7. Antibody response to primary antigenic stimuli is normal but secondary response to many ntigens is impaired. 

H. Chronic mucocutaneous candidiasis;

  1. In abnormal immunological response of candida albcans. 

I.   Combined immunodeficiencies:

  Cellular immunodeficiency with abnormal immunoglobulin synthesis

  1. The consistent features are a marked deficiency of t cell immunity and varying degrees of deficiency of B cell immunity .
  2. Thymic dyslasia occurs with lymphoid depletion. 

J.   Ataxia telangiectasia

  1. Autosomal recessive mode, where combined immunodeficiency is associated with cerebellar ataxia telngiectasia, ovarian dysgenesis and chromosomal abnormalities.
  2. Ataxia and chorioathetoid movements are usually noticed in infancy.
  3. telangiectasia involving the conjunctiva face and other parts of the body usually appears at five or six years of age.
  4. The majority of patients lack serum and secretory IgA and some possess antibody to IgA.
  5. IgE deficiency is also frequent. 

K. Wiskott-Aldrich syndrome

  1. X-linked disease characterized by eczema, thrombocytopenic purpura and recurrent infections.
  2. Serum IgM level is low but IgG and IgA levels are normal or elevated.

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