In some cases, a lung biopsy is needed to make the correct diagnosis and define the correct treatment course. A lung biopsy is a surgical procedure usually done by making a small incision in the chest and inserting a small scope and instruments to obtain a piece of lung tissue. The biopsy is evaluated by a pathologist, a doctor who performs a variety of tests on the lung tissue including a microscopic examination.
The tests performed by the pathologist can determine the specific type of lung disease that is present for example, cancer, infection, interstitial lung disease, granuloma. Patients with malignancies are referred to an oncologist cancer doctor for continuing care. Patients with infections are treated with antibiotics. Inflammatory changes in the lung are usually treated with immunosuppressant drugs that suppress or alter the immune system.
The most common medicine used is corticosteroids like prednisone , which can be given by inhalation, orally or intravenously IV. Steroids can be effective, but sometimes may not provide long-term improvement. Prolonged oral or IV steroid use is associated with significant side effects such as high blood pressure, high blood sugar, osteopenia weak bones , hyperlipidemia high cholesterol , and stress on the kidney and eyes.
Other immune suppressive medicines such as cyclosporine and Sirolimus are sometimes helpful. Some types of lung disease respond to one type of immunosuppressant medication but not another. IVIG can sometimes improve the inflammation in the lungs in addition to other drugs. Without treatment, interstitial lung disease can progress and cause permanent lung damage. Fibrosis scarring , which is the end result of chronic untreated inflammation, cannot be reversed.
It is very important that your doctor has the correct diagnosis of your specific lung disease and expertise in treating the specific disorder in order to insure the best outcome. Skin conditions due to autoimmunity or immune dysregulation are not unique to people with primary immunodeficiency diseases. Common skin conditions like eczema or psoriasis are seen in people with normal immune systems as well.
Sometimes, skin disease is one of the earliest symptoms of a primary immunodeficiency disease and can lead to further clinical or laboratory evaluation to identify immune deficiency. In addition to skin disorders that are autoimmune or inflammatory in nature, other abnormal skin manifestations, such as dry, sparse hair, abnormally formed teeth and fingernails, and absent sweat glands, can be seen in certain primary immunodeficiency diseases but are not due to autoimmunity, and these will not be covered in detail here.
Eczema, also known as atopic dermatitis, is generally a mild skin disease and is the most common skin disease in primary immunodeficiency diseases. It is not unusual for patients with primary immunodeficiency diseases who have other autoimmune manifestations to also have eczema.
Some primary immunodeficiency diseases are, however, associated with more severe eczema. In these disorders, the eczema may be quite resistant to typical therapies.
Psoriasis is another type of autoimmune skin disease that is more severe than eczema. Psoriasis plaques are typically red, raised, itchy and painful.
They are characterized by the presence of a silvery scale on the surface of the plaques that often bleeds if it is removed. Plaques of psoriasis occur most frequently on the scalp or on the elbows or knees. Multiple primary immunodeficiency diseases can have autoimmunity that affects the hair and skin pigment.
Some patients develop alopecia, or patches of baldness as a result of autoantibodies against hair producing cells. Alopecia areata refers to round circular areas of hair loss.
Some patients also develop vitiligo, or loss of the pigment in the skin. The affected area of skin will appear white in color. The contrast of the surrounding skin will determine how apparent the change is. The affected areas often change somewhat over time. Most of the time, a knowledgeable healthcare provider can diagnose skin disorders just by physical exam. If a rash is unusual, however, a skin biopsy is sometimes needed to determine what type of rash it is.
This is typically a very minor procedure that can be done in the office with local numbing of the skin. While not typically life threatening, autoimmune and inflammatory disorders of the skin can lead to significant emotional consequences and in rare situations can lead to permanent disfigurement. Because the skin plays an important role as a barrier to bacteria and other organisms from the environment, severe rashes like eczema may serve as an entry point to the bloodstream for bacteria from the skin.
Mild skin conditions can be diagnosed and treated by a primary care provider or an Immunologist but more severe skin conditions often require diagnosis and treatment by a dermatologist. Treatment for most conditions typically begins with local application of moisturizing lotions and steroid ointments directly to the rash.
If this is not sufficient to control the symptoms, ointments containing more potent steroids or other immunosuppressant medications can be applied. In rare cases, oral or IV immunosuppressant medications may be needed to treat severe disease. This is likely due to the fact that the intestines are constantly bathed in bacteria, bacterial products and food, which all have the potential to cause irritation of the intestinal lining the mucosa.
As a result, the immune system plays a particularly important role in maintaining the barrier function of the intestines and in protecting the body from invasion by the bacteria present in the bowel. Autoimmune or inflammatory diseases of the gastrointestinal tract can disrupt the mucous membranes that line the mouth, esophagus, stomach, and intestines.
This can cause a variety of symptoms including: geographic tongue, an abnormal appearance of the tongue that can be mistaken for an oral yeast infection thrush ; gingivitis or inflammation of the gums; oral ulcers or canker sores; abdominal pain; diarrhea that may be watery or bloody; an urgency to stool after eating; and weight loss despite a reasonable diet.
Similar symptoms can also be present in patients with primary immunodeficiency diseases who have bowel infections with organisms such as Giardia, Cryptosporidium or Clostridium difficile. Because both autoimmune and infectious complications can lead to serious problems in patients with primary immunodeficiency diseases, it is important that new gastrointestinal symptoms be evaluated see next page when they arise. In rare cases, ongoing gastrointestinal symptoms can be a sign of cancer in the bowel, which is more common in some types of primary immunodeficiency diseases than in the general population.
The liver is part of the gastrointestinal system and plays many important roles in the normal function of the body. Among the most important are: the metabolism of nutrients absorbed from the intestines, the production of important blood proteins such as clotting factors, the metabolism of drugs and other toxic molecules present in the blood, and the removal of waste products from the blood and excretion of these into the bile.
This may lead to accumulation of fluid in the abdomen ascites , elevated bilirubin in the blood leading to jaundice, blood clotting abnormalities, etc. Since infections by certain viruses, including Hepatitis A, B, or C , Cytomegalovirus CMV , Epstein Barr virus EBV , and others, can also cause severe liver inflammation and damage, these are typically excluded as the cause of disease before autoimmunity can be confirmed.
The diagnosis of gastrointestinal disorders in primary immunodeficiency diseases often requires a combination of approaches that include a physical exam, laboratory tests on blood and stool, radiology tests, and endoscopy with biopsies of the intestinal mucosa.
Common physical exam findings include oral or anal ulcers, abdominal tenderness, fluid in the abdomen ascites , enlargement or tenderness of the liver, cracks or fissures around the anus, etc. Laboratory tests that are often recommended on the blood include a complete blood count to determine whether the patient may be losing blood in the inflamed bowel, measures of inflammation including C reactive protein CRP and erythrocyte sedimentation rate ESR , albumin and pre-albumin levels as a rough measure of nutritional status, and AST, ALT, and Bilirubin levels as a measure of liver irritation.
To exclude the possibility of a bowel infection, stool is often collected and cultured to identify bacteria or viruses. Samples of stool are also stained and evaluated under the microscope for the presence of specific bacteria or parasitic organisms.
Radiologic tests that may be helpful include an abdominal X-ray, abdominal and liver ultrasounds, and a CT scan of the abdomen after contrast material has been swallowed. Sometimes the only way to make a definitive diagnosis of either bowel or liver inflammation is to obtain a fragment of tissue that can be evaluated under the microscope by a pathologist. In the bowel, this is done by passing an endoscope into the bowel to both look at the mucosa and to obtain small pinch biopsies of mucosal tissue from the inside surface of the intestine.
In the liver, this is done by obtaining a small piece of liver tissue with a biopsy needle inserted into the liver through the skin. Both of these procedures are typically done by a gastroenterologist, a doctor who specializes in the treatment of intestinal disorders.
In general, immunosuppressant medications are used to treat autoimmune or inflammatory disorders of the bowel in most patients with primary immunodeficiency diseases. This process is very individualized requiring flexible treatment plans to balance the severity and risks of the autoimmune process with the severity and risks of the immune deficiency and immunosuppressive therapy.
In some cases, including the bowel disease associated with CVID or CGD, steroids are often the first line of therapy, and in many cases, may be sufficient to control symptoms.
In contrast, the severe bowel disease associated with IPEX syndrome or Omenn syndrome typically requires more aggressive immunosuppression with stronger medications. For patients with primary immunodeficiency diseases who have significant gastrointestinal symptoms, it is essential to have a gastroenterologist involved to assist with diagnostic testing and with directing treatment. The kidney is made up of a large number of tiny filtration units. Each unit is called a glomerulus.
The most common form of autoimmune kidney disease in primary immunodeficiency diseases is called glomerulonephritis; inflammation and destruction of the glomeruli caused either by direct attack or by deposition of immune complexes aggregates containing autoantibodies and the proteins they are bound to.
Destruction of the glomeruli leads to progressive loss of filtering capacity and decreased kidney function. Glomerulonephritis is a common feature of patients with complement deficiencies, particularly those affecting complement components C1, C2, C3, or C4.
In many cases, the first sign of autoimmune kidney disease is elevated blood pressure. This is often accompanied by the appearance of blood or protein in the urine. In the setting of active glomerulonephritis, blood in the urine may not appear pink, but instead is more likely to cause the urine to have a color closer to that of tea or cola. When kidney disease is suspected, common blood tests are helpful to determine just how dysfunctional the kidneys may have become.
Evaluation of the urine for the presence of blood, protein, inflammatory cells and electrolytes is also typically very informative. In many cases, a kidney biopsy is needed to make the correct diagnosis and define the correct treatment course. A kidney biopsy is usually done by inserting a biopsy needle through the skin and into the kidney to obtain a small core of tissue, which is usually sufficient to make the diagnosis.
The biopsy is evaluated by a pathologist, who performs a variety of tests on the kidney tissue including a microscopic examination. Patients with autoimmune kidney disease are often referred to a nephrologist kidney doctor for evaluation and management of the kidney problems.
Blood pressure medications are typically prescribed to manage the elevated blood pressure, and immunosuppressants are used to control the autoimmune process. The major endocrine organs include the pituitary gland in the brain, the thyroid and parathyroid glands, the pancreas, the adrenal glands and the gonads testicles or ovaries. The endocrine organs secrete important hormones that play essential roles in maintaining basic bodily functions. Autoimmunity directed against endocrine organs can therefore cause significant health problems.
Patients who have endocrine autoimmunity are often referred to an endocrine specialist endocrinologist for evaluation and management.
The thyroid gland secretes thyroid hormone, which plays an important role in maintaining the metabolic rate of the body. Patients with hypothyroidism abnormally low thyroid hormone levels typically gain weight, have a slow heart rate, feel cold and fatigued, are constipated and have coarse hair and stiffening in the skin.
In contrast, patients with hyperthyroidism abnormally high thyroid hormone levels typically lose weight, have a rapid heart rate, feel hot and energetic, and have thin hair. Autoantibodies directed against the thyroid can cause either hypothyroidism or hyperthyroidism. Autoimmune thyroid disease is the most common autoimmune disease among the general population with an incidence of approximately 1 in Cite Icon Cite. After completing the article, the reader should be able to:.
Describe the association between immunodeficiency and autoimmune disease. Describe the various types of autoimmune diseases associated with immunodeficiency. Recognize the clinical features of each of the primary immunodeficiencies described. All rights reserved. You do not currently have access to this content. Comments Icon Comments 0.
View full article. Sign in Don't already have an account? Individual Login. Institutional Login. Sign in via OpenAthens. Pay-Per-View Access. Buy This Article. View Your Tokens. Doctors also determine immunoglobulin levels and the levels of certain specific antibodies produced after the person is given vaccines. If any results are abnormal, additional tests are usually done. Skin tests may be done if the immunodeficiency is thought to be due to a T-cell abnormality.
The skin test resembles the tuberculin skin test, which is used to screen for tuberculosis. Small amounts of proteins from common infectious organisms such as yeast are injected under the skin. If a reaction redness, warmth, and swelling occurs within 48 hours, the T cells are functioning normally.
No reaction could suggest a T-cell abnormality. To confirm a T-cell abnormality, doctors do additional blood tests to determine the number of T cells and to evaluate T-cell function.
A biopsy may be done to help doctors identify which specific immunodeficiency disorder is causing the symptoms. The sample is tested to determine whether certain immune cells are present. Genetic testing may be done if doctors suspect a problem with the immune system. The gene mutation or mutations that cause many immunodeficiency disorders have been identified. Thus, genetic testing can sometimes help identify the specific immunodeficiency disorder.
Genetic testing, usually blood tests, may also be done in people whose families are known to carry a gene for a hereditary immunodeficiency disorder. These people may wish to be tested to learn whether they carry the gene for the disorder and what their chances of having an affected child are. Talking with a genetic counselor before testing is helpful. Several immunodeficiency disorders, such as X-linked agammaglobulinemia X-Linked Agammaglobulinemia X-linked agammaglobulinemia is a hereditary immunodeficiency disorder due to a mutation in a gene on the X sex chromosome.
The disorder results in no B cells a type of lymphocyte and very Most infants with severe People with chronic granulomatous disease have persistent Such testing may be recommended for people with a family history of an immunodeficiency disorder when the mutation has been identified in the family. Some experts recommend screening all newborns with a blood test that determines whether they have abnormal T cells or too few T cells—called the T-cell receptor excision circle TREC test.
This test can identify some cellular immune deficiencies, such as severe combined immunodeficiency Severe Combined Immunodeficiency SCID Severe combined immunodeficiency is a primary immunodeficiency disorder resulting in low levels of antibodies immunoglobulins and low or no T cells lymphocytes. Identifying infants with severe combined immunodeficiency early can help prevent their death at a young age.
TREC testing of all newborns is now required in many U. The following are examples:. Cancer: Successful treatment usually restores the function of the immune system unless people need to continue taking immunosuppressants.
Diabetes: Good control of blood sugar levels can help white blood cells function better and thus prevent infections. Treatment of immunodeficiency disorders usually involves preventing infections, treating infections when they occur, and replacing parts of the immune system that are missing when possible.
With appropriate treatment, many people with an immunodeficiency disorder have a normal life span. However, some require intensive and frequent treatments throughout life.
Others, such as those with severe combined immunodeficiency, die during infancy unless they are given a stem cell transplant Stem Cell Transplantation Stem cell transplantation is the removal of stem cells undifferentiated cells from a healthy person and their injection into someone who has a serious blood disorder.
See also Overview of Strategies for preventing and treating infections depend on the type of immunodeficiency disorder. For example, people who have an immunodeficiency disorder due to a deficiency of antibodies are at risk of bacterial infections. The following can help reduce the risk:. Being treated periodically with immune globulin antibodies obtained from the blood of people with a normal immune system given intravenously or under the skin. Vaccines Overview of Immunization Immunization enables the body to better defend itself against diseases caused by certain bacteria or viruses.
Immunity the ability of the body to defend itself against diseases caused by certain Vaccines are given to stimulate the body to produce antibodies that recognize and attack specific bacteria or viruses. If the person's immune system cannot make antibodies, giving a vaccine does not result in the production of antibodies and can even result in illness. For example, if a disorder does not affect production of antibodies, people with that disorder are given the influenza vaccine once a year.
Doctors may also give this vaccine to the person's immediate family members and to people who have close contact with the person. Generally, vaccines that contain live but weakened organisms viruses or bacteria are not given to people who have a B- or T-cell abnormality because these vaccines may cause an infection in such people. The oral poliovirus vaccine is no longer used in the United States but is used in some other parts of the world.
Antibiotics Overview of Antibiotics Antibiotics are drugs used to treat bacterial infections. They are ineffective against viral infections and most other infections. Antibiotics either kill microorganisms or stop them from reproducing If a disorder such as severe combined immunodeficiency increases the risk of developing serious infections or particular infections, people may be given antibiotics long-term to prevent these infections.
It requires a living cell in which to multiply. A viral infection can lead to a spectrum of symptoms from These drugs include oseltamivir or zanamivir for influenza and acyclovir for herpes or chickenpox. Immune globulin can effectively replace missing antibodies immunoglobulins in people with an immunodeficiency that affects antibody production by B cells.
Immune globulin may be injected into a vein intravenously once a month or under the skin subcutaneously once a week or once a month. Subcutaneous immune globulin can be given at home, often by the person with the disorder. Stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells undifferentiated cells from a healthy person and their injection into someone who has a serious blood disorder.
Stem cells may be obtained from bone marrow or blood including umbilical cord blood. Stem cell transplantation, which is available at some major medical centers, is usually reserved for severe disorders. Gene therapy, along with transplantation, is an intervention with the potential to cure genetic disease. In gene therapy, a normal gene is inserted into someone's cells to correct a genetic abnormality causing a disorder. Gene therapy has been used successfully in various primary immunodeficiency disorders such as severe combined immunodeficiency Severe Combined Immunodeficiency SCID Severe combined immunodeficiency is a primary immunodeficiency disorder resulting in low levels of antibodies immunoglobulins and low or no T cells lymphocytes.
Although there are various limitations and obstacles with the procedure, gene therapy provides promise for potential cures in the future. The following is an English-language resource that may be useful. Immune Deficiency Foundation : Comprehensive information on primary immunodeficiencies, from diagnosis and treatment to improving the quality of life for people affected.
Merck and Co. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world. The Manual was first published in as a service to the community.
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