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  1. 1. S. SHANMUGAPRIYA Biomedical sciences, Sri Ramachandra University, Porur, Chennai-
  2. 2. What is immunodeficiency? Immunodeficiency is a state in which the ability of immune system is compromised or entirely absent to fight against infectious diseases and cancer. Two types of immunodeficiency disorders: 1.primary or congenital or inherited 2.secondary or acquired Immunodeficiency can be specific or non-specific 1.specific = abnormalities of B & T cells 2. non-specific= abnormalities of non specific components
  3. 3. What is primary immunodeficiency disorder? To date, over 150 different primary immunodeficiency have been identified. All are relatively rare usually present at birth and are usually hereditary. evident during infancy or childhood. However, some disorders (such as common variable immunodeficiency) are not recognized until adulthood.
  5. 5. common variable immunodeficiency In which number of B cells is usually normal, but the cells do not mature and thus cannot produce immunoglobulin. In some people with this disorder, T cells (lymphocytes) also malfunction. It is usually diagnosed between the ages of 20 and 40 . The genetic mutations that cause this disorder can be inherited, but more often, they occur spontaneously. Symptoms Recurring sinus and lung infections, particularly pneumonia, are common. People may develop a chronic cough, cough up blood, or have difficulty breathing. Diarrhea may occur. The spleen may enlarge. Up to 25% of people develop autoimmune disorders. Mostly people have a normal life span
  6. 6. Diagnosis Blood tests are done to measure immunoglobulin levels and to determine how well the body produces immunoglobulin in response to vaccines. Treatment Immune globulin (antibodies obtained from the blood of people with a normal immune system) is given throughout life to provide the missing immunoglobulin. It is given as IV (once a month) or subcutaneously (once a week or once a month). Antibiotics are promptly given to treat infections. Autoimmune disorders are treated as needed with drugs that suppress or modify the immune system's activity (such as rituximab, etanercept, infliximab, or corticosteroids).
  7. 7. SELECTIVE IMMUNOGLOBULIN DEFICIENCY It results in a low level of one type (class) of antibody (immunoglobulin) but levels of other IG’s are normal. most commonly affected class is IgA deficiency. is usually inherited. SELECTIVE IGA DEFICIENCY is a low level of immunoglobulin A (IgA). caused by a mutation in a specific gene or by adrug[phenytoin or sulfasalazine] . Familial history will increases the risk by about 50 times Symptoms Mostly no symptoms are observed, but some have chronic lung infections, sinusitis, and other disorders. Susceptible to pyogenic infection
  8. 8. Life span is usually unaffected. Patients tend to develop immune complex disease Diagnosis • Blood tests to measure immunoglobulin levels Treatment • Antibiotics to treat or sometimes to prevent infections Usually, no treatment is needed. If the disease results from prolonged drug taking is resolved if the drug is stopped.
  9. 9. Transient hypogammaglobuline mia of infancy At birth, the immune system is not fully developed. Most of the IG are transferred via the placenta from mother. In normal infants IG synthesis begins at 3 months. production of normal amounts of immunoglobulins in infants is delayed in this disease. Mainly delay in in IgG synthesis . As a result, immunoglobulin levels become low starting at age 3 to 6 months and return to normal at about age 12 to 36 months. It rarely leads to serious infections, sinus, lung, or digestive tract infections, candidiasis (a fungal infection), and meningitis. This condition is more common among premature infants because they receive fewer immunoglobulins from the mother. Blood tests are done to measure levels of immunoglobulins.
  10. 10. X-linked agammaglobulinemia It is a hereditary due to a mutation in a gene on the X (sex) chromosome. The disorder cause no B cells (lymphocytes) and very low levels of or no antibodies (immunoglobulins). X-linked disorders usually affects boys. Symptoms risk of developing infections in the joints (infectious arthritis), irreversible widening due to chronic inflammation of the airways (bronchiectasis), and certain cancers.
  11. 11. Diagnosis Blood tests are done to measure immunoglobulin levels and the number of B cells. Genetic testing may be done to confirm the diagnosis of X-linked agammaglobulinemia. Treatment Missing immune globulin is injected [ IV or Subcutaneously] throughout life. Antibiotics are promptly given to treat bacterial infections and may be given continuously.
  12. 12. chronic mucocutaneous candidiasis Its a hereditary. It is persistent or recurring infection with Candida (a fungus) due to malfunction of T cells (lymphocytes). Because T cells malfunction, the body is less able to fight fungal infections ( candidiasis), a yeast. It is due to a mutation in specific genes. Symptoms cause infections in mouth, scalp, skin, and nails. Membranes lining the mouth, eyelids, digestive tract, and vagina ( vaginal yeast infection) may also be infected. Usually, this disorder is chronic, but it does not
  13. 13. Diagnosis Examining a sample from the infected area under a microscope and identifying the yeast can confirm that a Candida infection is the cause. Treatment an antifungal drug[fluconazole] applied to the skin
  14. 14. Digeorge syndrome It is a congenital . Thymus gland is absent or underdeveloped at birth.[problem with T- cell maturation] Usually, it is due to a chromosomal abnormality, but it is not inherited. Reason for disorder is not known. Boys and girls are equally affected. Symptoms: Congenital heart disorder underdeveloped or no parathyroid glands (which help regulate calcium levels in the blood). As a result, calcium levels are low, leading to muscle spasms (tetany) within 48 hours after birth. Face: unusual facial features, with low-set ears, and wide-set eyes, cleft palate. Thymus gland: missing or underdeveloped leads to low number of T cells, limiting their ability to fight many infections.
  15. 15. Diagnosis Blood tests are done for the following reasons: To determine the total number of blood cells and the number of T and B cells To evaluate how well T cells and the parathyroid gland are functioning To determine how well the body produces immunoglobulins in response to vaccines A chest x-ray may be taken to check the size of the thymus gland. Because DiGeorge syndrome often affects the heart, ECG is usually done. Chromosomal tests may be done to look for abnormalities. Treatment For children who have some T cells, the immune system may function adequately without treatment. Calcium and vitamin D supplements are given by mouth to prevent muscle spasms. For children who have no T cells, the disorder is fatal unless transplantation of thymus tissue is done. stem cell transplantation may be done. Sometimes the heart disease is worse than the immunodeficiency,
  16. 16. X-linked lymphoproliferative syndrome It is inherited as an X-linked recessive disorder. the disorder is due to a mutation in one or more genes on the X (sex) chromosome. occur only in boys. results from an abnormality in T cells and natural killer cells and results in an abnormal response to Epstein-Barr virus infection. Symptoms: Usually, people with X-linked lymphoproliferative syndrome have no symptoms until Epstein-Barr virus (EBV) infection develops. The liver malfunctions, lymphoma, aplastic anemia, another immunodeficiency disorder, and an enlarged spleen. About 75% of people die by age 10, and all die by age 40 unless stem cell transplantation is done.
  17. 17. Diagnosis flow cytometry testing(analysis of proteins on the surface of white blood cells), to check for abnormalities in immune cells. Prenatal genetic screening is recommended, if any family history is found. Treatment Stem cell transplantation can cure X-linked lymphoproliferative syndrome if it is done before EBV infection or other disorders become too severe. Rituximab (a drug that modifies the immune system's activity) can help prevent severe EBV infection before transplantation is done.
  18. 18. Ataxia- telangiectasia is a hereditary disorder [autosomalrecessive disorder] The defects arise from a breakage in chromosome 14 at the site of TCR and Ig heavy chain genes Leads to malfunction of B and T cells. Often, levels of immunoglobulins—IgA and IgE—are also low. IgA is considerably reduced (in 70% of the cases). characterized by incoordination (abnormalities in the cerebellum result in loss of coordination), dilated capillaries, and an immunodeficiency Symptoms Intellectual disability may develop and progress. Between the ages of 1 and 6 capillaries in the skin and eyes become dilated and visible.
  19. 19. The endocrine system may be affected, resulting in small testes (in boys), infertility, and diabetes. Sinus and lung infections The risk of cancer, especially leukemia, lymphoma, brain tumors, and stomach cancer, is increased. Ataxia-telangiectasia usually progresses to paralysis, dementia, and death, typically by age 30. Diagnosis Blood tests to measure the levels of IgA and genetic tests can help confirm the diagnosis. Treatment To help prevent infections, doctors give people antibiotics and immune globulin, which provides the missing immunoglobulins. However, these drugs do not relieve the other
  20. 20. Hyper-IgM syndrome is characterized by normal or high levels of immunoglobulin M (IgM) and decreased levels or absence of other immunoglobulins. Production of large amount of IgM >200mg/dl of polyclonal IgM As a result, people are susceptible to pyogenic infection . It may be inherited in one of the following ways: 1)As an X- linked disorder [ mostly] 2)As an autosomal recessive disorder X-linked hyper-IgM syndrome In this, B cells produce only IgM, not other types of immunoglobulin. Levels of IgM may be normal or high. Usually affect only boys. Infants with this form often develop pneumonia, frequent sinus and lung infections during the first 2 years of life. Many children die before puberty, and those who
  21. 21. Autosomal recessive hyper-IgM syndrome Generally, symptoms are similar to those of the X- linked form. In some of them, the lymph nodes, spleen, and tonsils are enlarged, and autoimmune disorders may develop. Diagnosis Blood tests-measure levels of immunoglobulins. Prenatal genetic testing can be done to same family history. Treatment Treatment by iv gamma globulin trimethoprim/sulfamethoxazole (an antibiotic) are given to prevent Pneumocystis jirovecii infection.
  22. 22. Hyperimmunoglobulinemia E syndrome is a hereditary Levels of immunoglobulin E (IgE) are very high. It may be inherited in one of two ways:1)As an autosomal (not sex-linked) dominant disorder 2)As an autosomal recessive disorder Symptoms: In most infants abscesses form in the skin, joints, lungs, or other organs. The abscesses are usually caused by infections with staphylococcal bacteria, and they recur frequently. Rashes are seen. Bones are weak, resulting in many fractures. Facial features may be coarse. Loss of baby teeth is delayed. Life span depends on the severity of the lung infections.
  23. 23. Diagnosis Blood tests to measure IgE levels Genetic tests can be done to check for the abnormal genes. Treatment Antibiotics, usually trimethoprim/sulfamethoxazole, are given continuously to prevent staphylococcal infections. The rash is treated with moisturizing creams, antihistamines. Certain drugs that modify the immune system, such as interferon gamma, are sometimes helpful.
  24. 24. Severe combined immunodeficiency It is a serious, potentially fatal immunodeficiency disorder. It is congenital and can be caused by mutations in many different genes. All forms are hereditary. The most common form results from a mutation in a gene on the X (sex) chromosome (called an X-linked disorder) and occurs almost exclusively in boys. The x-linked SCID is due to a defect in gamma-chain of IL-2 also shared by IL-4, -7, -11 and 15, all involved in lymphocyte proliferation and/or differentiation. This cause low levels of antibodies (immunoglobulins) and low or no T cells (lymphocytes). There are no T cells and because B cells cannot produce antibodies without the help of T cells, immunoglobulin levels are low. Also, natural killer cells do not function normally. The autosomal SCIDs arise primarily from defects in adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP) genes which results is accumulation of dATP or dGTP, respectively, and cause toxicity to lymphoid stem cells
  25. 25. Symptoms Most develop pneumonia, persistent viral infections, thrush. All infants with this disorder have a severely underdeveloped thymus gland. If not treated, these children usually die before age 1 year. Diagnosis Blood tests are done to measure the number and functioning of B and T cells. Some experts recommend screening all newborns for T-cell receptor excision circle (TREC) test. use genetic tests to identify the specific mutation causing the disorder and thus help determine how severe the disorder is. Treatment People with this disorder are kept in a protected environment to prevent exposure to possible infections (called reverse isolation). Treatment with antibiotics and immune globulin helps prevent infections but does not cure the disorder. The only effective treatment is transplantation of stem cells (for example, from an unaffected sibling with the same tissue type). If transplantation is done by age 3 months, 96% of infants survive. Gene therapy may be effective, depending on which form of severe combined immunodeficiency is present.
  26. 26. Wiskott-Aldrich syndrome is a hereditary characterized by abnormal antibody (immunoglobulin) production, T- cell malfunction, a low platelet count, and eczema( patches of skin got inflammed). It results from a mutation in a gene on the X (sex) chromosome (X- linked disorder), which codes for a protein needed by T and B cells to function. Thus, these cells malfunction. It usually affects only boys. Platelets are small and malformed. The spleen removes and destroys them, causing the platelet count to be low. Symptoms Because the number of platelets is low, bleeding problems, usually bloody diarrhea, may be the first symptom. Susceptibility to viral and bacterial infections, particularly of the RTI is increased. The risk of developing cancers (such as lymphoma and leukemia) and autoimmune disorders (such as hemolytic anemia, inflammatory bowel disease, and vasculitis) is increased. Life expectancy is shortened.
  27. 27. Diagnosis Blood test is done to determine the no. of WBC and the percentages of the different types of white blood cells The number of platelets Levels of immunoglobulins The quantity and type of antibodies produced in response to vaccines or antigen Genetic testing may be done to identify the mutation and confirm the diagnosis Treatment Stem cell transplantation is necessary to preserve life. Without it, most die by age 15. Antibiotics are given continuously to prevent infections, and immune globulin is given to provide the missing antibodies. An antiviral drug (acyclovir) is given to prevent viral infections, and platelet transfusions are given to relieve bleeding problems.
  28. 28. Chronic granulomatous disease It is inherited as an X-linked recessive disorder, in which phagocytes malfunction. occur only in boys. Sometimes this disease is also inherited as an autosomal recessive disorder. Normally, phagocytes (neutrophils, eosinophils, monocytes, and macrophages) ingest and kill microorganisms. In chronic granulomatous disease, phagocytes can ingest but cannot produce the substances (such as hydrogen peroxide and superoxide) that kill certain bacteria and fungi. Symptoms Chronic infections occur in the skin, lungs, lymph nodes, mouth, nose, urinary tract, and intestines. Abscesses can develop around the anus and in the lungs and liver.
  29. 29. Diagnosis Blood tests- measures the activity of phagocytes in responseto microorganisms. genetic tests- to check for the specific mutations that cause this disorder. Treatment Antibiotics, usually trimethoprim/sulfamethoxazole, are given regularly and indefinitely to prevent infection. Antifungal drugs (such as itraconazole) are usually also given regularly to help prevent fungal infections. Interferon gamma (a drug that modifies the immune system), injected 3 times a week, can reduce the number and severity of infections. Transfusions of granulocytes can be lifesaving. Granulocytes are a type of white blood cell that includes some phagocytes. Stem cell transplantation has cured some people with chronic granulomatous disease.
  30. 30. Chédiak-Higashi syndrom e is a very rare hereditary disorder usually inherited as an autosomal recessive disorder. People are more susceptible to infections because phagocytes do not function normally. Symptoms little or none of the pigment melanin is formed (albinism) The disorder may also cause vision problems. For example, acuity, photosensitivity, Nystagmus also have infections in the respiratory tract, skin, and membranes lining the mouth. In about 80% of people, causing fever, jaundice, an enlarged liver and spleen, swollen lymph glands, and a tendency to bleed and bruise easily. The disorder can also affect the nervous system. Respiratory burst is normal. Once these symptoms develop, the syndrome is usually fatal within 30 months.
  31. 31. Diagnosis Genetic testing Blood test Treatment antibiotics to help prevent infections and interferon gamma to help the immune system function better. Corticosteroids and removal of the spleen (splenectomy) sometimes temporarily relieve symptoms. However, unless stem cell transplantation is done, most people die of infections by the time they are 7 years old. About 60% of children are alive 5 years after transplantation.
  32. 32. Leukocyte adhesion deficiency white blood cells (leukocytes) do not function normally. It is inherited as an autosomal recessive disorder. white blood cells are lacking a protein on their surface. As a result, white blood cells are less able to travel to sites of infection and to kill and ingest bacteria and other foreign invaders. Symptoms In severely affected infants, infections develop in soft tissues, such as the gums, skin, and muscles. No pus forms in infected areas. Infections become increasingly difficult to control. Wounds do not heal well. Often, the umbilical cord is slow to fall off, taking 3 weeks or more after birth.[ Normally, it falls off in 1 or 2 weeks after birth] Most children with severe disease die by age 5
  33. 33. Diagnosis Blood tests - A complete blood count and of proteins on the surface of white blood cells (called flow cytometry), are used to diagnose leukocyte adhesion deficiency. Treatment Antibiotics given continuously, to prevent infections. Transfusions of granulocytes (a type of white blood cells) can also help. However, stem cell transplantation is the only effective treatment. It may provide a cure. Gene therapy for this disorder is being studied.
  34. 34. Cyclic neutropenia It is marked by low numbers of circulating neutrophil . The neutropenia lasts about a week during which the patients are susceptible to infection. The defect appears to be due to poor regulation of neutrophil production.
  35. 35. Disorders of complement system  There are genetic deficiencies of various components of complement system, which lead to increased infections.  The most serious among these is the C3 deficiency which may arise from low C3 synthesis or deficiency in factor I or factor H.
  36. 36. Secondary disorder Secondary immunodeficiency disorders happen when an outside source like a toxic chemical or infection attacks your body. The following can cause a secondary immunodeficiency disorder: severe burns, chemotherapy, radiation, chronic disorders such as diabetes[diabetes = white blood cells do not function well when the blood sugar level is high ] or cancer, Drugs, malnutrition. Examples of secondary immunodeficiency disorders include: AIDS, cancers of the immune system, like leukemia immune-complex diseases, like viral hepatitis multiple myeloma
  37. 37. Nutrition and age Undernutrition: When undernutrition causes weight to decrease to less than 80% of recommended weight, the immune system is often impaired. A decrease to less than 70% usually results in severe impairment As people age, the immune system becomes less effective in several ways For example, as people age, they produce fewer T cells.[ which help the body recognize and fight foreign or abnormal cells]
  39. 39. Immunosuppressan t Immunosuppressant are used to prevent rejection of atransplanted organ or tissue and also to the an autoimmune disorder patient. Corticosteroids: a type of immunosuppressant, are used to suppress inflammation due to various disorders. Cause changes in circulating leukocytes Depletion of CD4 cells Monocytopenia Decreased in circulating eosinophils and basophils Inhibition of T cell activation and B cell maturation Inhibit cytokine synthesis
  40. 40. CYCOLOSPORIN: Have severe effects on T cell signaling and functions It binds to immunophilins which are believed to have acritical role in signal transduction Also inhibit IL 2 dependent signal transduction Chemotherapy and radiation therapy can also suppress the immune system, sometimes leading to immunodeficiency disorders.
  41. 41. How To Identify The Type Of Immunodeficiency Disorder Younger than 6 months: Usually an abnormality in T cells Age 6 to 12 months: Possibly a problem with both B cells and T cells or with B cells Older than 12 months: Usually an abnormality in Bcells and antibody production