Dr. Roy

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X-LINKED AGAMMAGLOBULINEMIA (XLA)

X-linked agammaglobulinemia or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The disease was first elucidated by Bruton in 1952, for whom the gene is named. X-Linked Agammaglobulinemia (XLA) is an inherited immunodeficiency in which the body is unable to produce the antibodies needed to defend against bacteria and viruses. A genetic mistake in the BTK gene, prevents B cells from developing normally. B cells are responsible for producing the antibodies that the immune system relies on to fight off infection. The most common bacteria causing infection in XLA are Streptococcus, Staphylococcus and Haemophilus. XLA often becomes apparent in infancy once the maternal antibodies wane off, due to recurrent and severe bacterial infections including: • Ear infections • Sinusitis • Pneumonia • Diarrhea due to a parasite called Giardia Diagnosis of XLA can be made through screening tests that measure immunoglobulin levels or the number of B cells in the blood. There is no cure for XLA, but the condition can be successfully treated. Immunoglobulin replacement therapy under the watchful monitoring & guidance of an Allergist-Immunologist is a life-long and life-saving treatment that restores some of the missing antibodies. In addition, some people benefit from courses of oral antibiotics to prevent or treat infections.

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YEAR ROUND ALLERGIES

Perennial allergies or Year Round Allergies may occur at any time of year—unrelated to the season—or may last year-round. Perennial allergies are often a reaction to allergens in household dust. House dust may contain mold and fungal spores, fibers of fabric, animal dander, dust mite droppings, and bits of insects. Substances in and on cockroaches are also the cause of allergic symptoms in some individuals. These substances are present in houses year-round but may cause more severe symptoms during the cold months when more time is spent indoors. (Substances that trigger an allergic reaction are called allergens) Usually, perennial allergies cause nasal symptoms (allergic rhinitis) but not eye symptoms (allergic conjunctivitis). However, allergic conjunctivitis can result when allergens are inadvertently rubbed into the eyes due to itching.   Symptoms of Perennial Allergies The most obvious symptom of perennial allergies is a chronically stuffy nose. The nose runs, producing a clear watery discharge. The nose, roof of the mouth, and back of the throat may itch. Itching may start gradually or abruptly. Sneezing is common. The eustachian tube, which connects the middle ear and the back of the nose, may become swollen. As a result, hearing can be impaired, especially in children. Some may also develop chronic ear infections. Some people have recurring sinus infections (chronic sinusitis) and growths inside the nose (nasal polyps). When affected, the eyes water and itch. The whites of the eyes may become red, and the eyelids may become red and swollen. The skin under the eyes can become dark (allergic shiners). Many people who have a perennial allergy also have asthma, possibly caused by the same allergy triggers.   Diagnosis Besides a careful history and thorough examination we need to conduct allergy skin testing which can help confirm the diagnosis and identify the trigger for symptoms (such as house dust mites or cockroaches). For these tests, the allergen extracts are placed into the uppermost layers of our skin. We then watch to see if there is a wheal and flare reaction (a pale, slightly elevated swelling surrounded by a red area). An allergen-specific immunoglobulin (IgE) blood test is done if results of the skin test are unclear or need confirmation. Then Avoiding or removing the allergen, if possible, is recommended, thus preventing the development of symptoms. Antihistamines, Anti- inflammatories, topical Corticosteroids & occassionally decongesants make up the medical therapy for perennial allergies. Ultimately Allergen Immunotherapy could potentially help resolve these chronic diseases.

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ZAP 70 DEFICIENCY

ZAP-70 (zeta-associated protein 70) deficiency is an immunodeficiency involving impaired T-cell activation caused by a signaling defect. It is a primary immunodeficiency disorder that involves cellular immunity deficiencies. Inheritance is autosomal recessive. ZAP-70 is important in T-cell signaling and in T-cell selection in the thymus. This deficiency causes T-cell activation defects. They generally present during infancy or early childhood with recurrent infections similar to those in severe combined immunodeficiency (SCID); however, they live longer, and the deficiency may not be diagnosed until they are several years old. Blood Testing necessary includes Complete blood count, including absolute WBC count and differential, is done; immunoglobulin levels are measured. Responses to mitogens and to standard vaccine antigens are determined to evaluate WBC and antibody function. Patients have normal, low, or elevated serum immunoglobulin levels and normal or elevated numbers of circulating CD4 T cells but essentially no CD8 T cells. Management Treatment of ZAP-70 deficiency generally involves preventing infection, managing acute infection, and replacing missing immune globulins. The ZAP-70 deficiency is fatal unless treated by hematopoietic stem cell transplantation.

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KETO DIET & ORAL ALLERGY SYNDROME

When you eat less than 50 grams of carbs a day, your body eventually runs out of fuel (blood sugar) it can use quickly. This typically takes 3 to 4 days. Then you’ll start to break down protein and fat for energy, which can make you lose weight. This is called ketosis. “Ketogenic” is a term for a low-carb, high fat diet. The idea is for you to get more calories from protein and fat and less from carbohydrates. You cut back most on the carbs that are easy to digest, like sugar, soda, pastries, and white bread. You eat more raw fruits and vegetable for the 10-15 % calories you need from carbohydrates. The ketogenic diet is popular for weight loss these days. Keto isn’t exactly a new diet — a ketogenic diet has been around nearly a century for epilepsy management — and recent research is exploring possible benefits ranging from Parkinson’s Disease to certain cancers. Yet suppose you don’t have a weight control problem or any of those medical conditions; instead you have food allergies, then is the Keto diet safe for you? The danger of nutritional deficiencies from unnecessarily restrictive diets is a real possibility when done without medical or expert supervision. OAS is a form of a contact allergic reaction that occurs upon contact of the mouth and throat with raw fruits or vegetables. The most frequent symptoms of OAS include itchiness or swelling of the mouth, face, lip, tongue and throat. Symptoms usually appear immediately after eating raw fruits or vegetables, although in rare cases, the reaction can occur more than an hour later. OAS is generally considered to be a mild form of food allergy. Rarely, OAS can cause severe throat swelling leading to difficulty swallowing or breathing. People who have Oral Allergy Syndrome run a 1 in 60 chance of developing life threatening anaphylaxis. You should see an Allergist Immunologist if: Your OAS symptoms are causing significant throat discomfort; Your OAS symptoms are getting progressively worse; Your OAS symptoms are caused by cooked fruits and vegetables; Your OAS symptoms are caused by nuts; You develop systemic reactions after eating raw fruits or vegetables such as hives, vomiting or difficulty breathing. You wish to find out what pollen or foods you are allergic to so you can avoid them. As expected more fruits and veggies can aggravate OAS symptoms and needs proper Allergy guidance in some individuals.

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JOB’S SYNDROME /HYPER IgE SYNDROME

Hyper IgE syndrome is an immune deficiency caused by a genetic mutation in either STAT3 (autosomal dominant, also known as Job’s syndrome) or DOCK8 (autosomal recessive). There may be other mutations in other genes that are not known at this time. Patients with either form of hyper IgE syndrome often have trouble fighting harmful bacteria and fungi. They may get serious infections. This often happens in the skin and lungs. Signs and Symptoms of Hyper IgE Syndrome The patient may have: Eczema Frequent skin infections Abscesses in the skin or lungs that reoccur Dry, itchy skin (eczema) Frequent pneumonia Yeast infections Elevated IgE Allergic respiratory problems Complications of Hyper IgE Syndrome Complications of Hyper IgE syndrome broken down by genetic mutation: STAT 3 Mutations Delay in losing primary teeth Large cysts in the lungs, called pneumatoceles Increased broken bones (fractures) Abnormal curve of the spine (scoliosis) Changes in blood vessels (aneurysms) Lymphoma DOCK8 Mutations Asthma and other allergic disorders Viral skin infections (warts, molluscum, herpes) Skin cancer Lymphoma How Do You Detect These Complications? Chest X-rays or chest CT scans may be done to look for cysts in the lungs Clinical surveillance (watching for signs) Treatment for Hyper IgE Syndrome For most patients, the focus of treatment is to stop the symptoms. This can include: Antibiotics to treat infections Cream medicine for skin rash Anti-Allergic medicines Checking pulmonary (lung) function with spirometry and imaging Some patients may need to take medicine every day to prevent infection. Some patients may need to get an IV medicine called IVIG. IVIG has antibodies to fight future infections. For some patients with DOCK8 deficiency, a bone marrow transplant is advised.

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GASTROENTERITIS ALLERGIC (EOSINOPHILIC)

Overview of Gastroenteritis Allergy induced Stomach Pain Gastroenteritis is the inflammation of the lining of the intestines. Symptoms include: nausea, abdominal pain, vomiting, headache,  diarrhea etc. One of the worst things that can happen during gastroenteritis is dehydration because it is often difficult to keep down more than what you are losing. Usually, there is no specific treatment associated with viral gastroenteritis, but there can be for allergic/eosinophilic gastroenteritis. Symptoms of Gastroenteritis Gastroenteritis directly affects the intestines. Some symptoms include diarrhea, nausea, vomiting, abdominal cramps, headaches, muscle aches and fever. Symptoms may range from mild to severe and typically last between one and ten days. You will begin noticing symptoms within minutes or hours of ingestion. Severe symptoms will require a visit to your physician. If you are an adult, seek medical attention if you are a vomiting for more than two days, cannot keep liquids down for 24 hours, vomiting blood, blood in bowel movements, dehydrated, or have a fever above 104 degrees. In children, see your physician if the fever exceeds 102 degrees, seems tired, has bloody diarrhea, or is dehydrated. In babies, call your physician if they have not wet a diaper in six hours, has bloody bowel movements, diarrhea, dry mouth, cries with no tears, vomiting that lasts more than a few hours, or is very drowsy. Causes of Gastroenteritis The cause of gastroenteritis is typically an allergic reaction to food. There are proteins in the food that some people’s immune system finds to be harmful. When your body finds a certain protein to be harmful, it will react on the second exposure to the allergen. Usually an allergic reaction does not occur on the first encounter, but will likely happen on the second. The most common food allergies are triggered by shellfish, peanuts, tree nuts and fish. In children, the most common food allergies are triggered by peanuts, eggs, milk, wheat, soy and lentils. Risk Factors of Gastroenteritis You are at a higher risk for a food allergy if you have a family history of food allergies. If you have other allergies or asthma, you will likely have a food allergy too. Age is also important to look at, as most food allergies occur in children. Typically, children will outgrow some of their food allergies. Prevention of Gastroenteritis The best method of prevention is to avoid the food allergen as diagnosed by Allergy Skin Test or Specialised Allergy Blood Tests. Since there is no real treatment for gastroenteritis, you will have to treat the symptoms. Be sure to drink plenty of fluids to prevent dehydration. Stop eating full meals and really focus on just sipping water and eating bland food. Take the medicines prescribed to prevent progression of symptoms. Check labels on foods before purchasing and if you are eating in a restaurant, check with the server to ensure there is no cross-contamination. In some cases, you may have to have them properly clean the area and even trade gloves. Some ingredients may be hidden under other ingredient names. Study the alternative names so you know what to look for when purchasing and ordering. If there is no possible way to avoid your allergens in restaurants, then pack meals and snacks to bring with you. If your child is the one with the allergy, be sure to notify everyone that is responsible for your child, including teachers, after-school care workers, babysitters, their friend’s parents, etc. Diagnosis A proper diagnosis will be done through a food journal and/or physical exam. Final confirmation of diagnosis is through an Allergy Skin test/Blood test orders by an Allergy Immunology Superspecialist. Upper GI endoscopy with biopsy is often essential to confirm presence of eosinophils in the oesophagus or stomach or small intestines. Ensuring the proper diagnosis is essential in treatment. Once you know what triggers a reaction, then you will be able to avoid the food. You can avoid the food by checking labels, speaking with the restaurant staff, or bringing your own food. Specific treatments are also available for Eosinophilic Oesophagitis and  Gastroenteritis which your Allergist will explain to you. Now, Avoid using affordable-papers.net biased words or phrasing, such as”of course”obviously. if you are like most students out there, you need your study paper to seem as professional and higher quality as possible.

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BEE STING ALLERGY

Honey bee stings or other flying stinging insect allergies are rising and can pose serious problems for those who become allergic to them. Both children and adults can be affected by these reactions. Symptoms of Insect stings Bee stings can produce different reactions, ranging from temporary pain and discomfort to a severe allergic reaction. Having one type of reaction doesn’t mean you’ll always have the same reaction every time you’re stung or that the next reaction will necessarily be more severe. Mild reaction Most of the time, bee sting symptoms are minor and include: Instant, sharp burning pain at the sting site A red welt at the sting area Slight swelling around the sting area In most people, the swelling and pain go away within a few hours with first aid care. Moderate reaction Some people who get stung by a bee or other insect have a bit stronger reaction, with signs and symptoms such as: Extreme redness Swelling at the site of the sting that gradually enlarges over the next day or two Moderate reactions tend to resolve over five to 10 days. Having a moderate reaction doesn’t mean you’ll have a severe allergic reaction the next time you’re stung. But some people develop similar moderate reactions each time they’re stung. If this happens to you, talk to your Allergy specialist about treatment and prevention, especially if the reaction becomes more severe each time. Severe allergic reaction A severe allergic reaction (anaphylaxis) to bee stings is potentially life-threatening and requires emergency treatment. A small percentage of people who are stung by a bee or other insect quickly develop anaphylaxis. Signs and symptoms of anaphylaxis include: Skin reactions, including hives and itching and flushed or pale skin Difficulty breathing Swelling of the throat and tongue A weak, rapid pulse Nausea, vomiting or diarrhea Dizziness or fainting Loss of consciousness People who have a severe allergic reaction to a bee sting have a 25% to 65% chance of anaphylaxis the next time they’re stung. Consult an Allergy Immunology superspecialist about testing to confirm the allergy and then about prevention measures such as immunotherapy (“allergy shots”) to avoid a similar reaction in case you get stung again. An emergency action plan will also be provided to you during your visit with us in case of any future accidental stings.

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URTICARIA (HIVES)

Urticaria, also called hives, are red, itchy, swollen areas of the skin that can range in size and appear anywhere on the body. The blotches can migrate on body, appearing in different areas throughout the course of the reaction. Usually, the cause of urticaria is readily identifiable—often a viral infection, or allergic reaction to drugs, food or latex. These hives usually go away spontaneously or by avoiding the allergic trigger. However, in some cases, medical intervention is needed to increase comfort or prevent recurrence. Treatment with oral antihistamines is frequently successful, but in severe cases, steroids may be needed. Some people have chronic urticaria that occurs almost daily for months or, in some cases, years. For these individuals, scratching, pressure or stress may aggravate hives. An allergist/immunologist can diagnosis the problem and prescribe treatments for this bothersome condition.

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SKIN ALLERGY

Allergy is defined as a “harmful, increased susceptibility to a specific substance,” also known as hypersensitivity, while immunity is characterized as a “protective, enhanced resistance.” The American Academy of Allergy, Asthma & Immunology has an array of resources about allergic disease to help you understand how your allergies affect you, your friends and family. Skin Allergies Red, bumpy, scaly, itchy or swollen skin – any of these signs may mean you have a skin allergy. The most common allergic skin conditions are: Eczema Hives and angioedema Allergic contact dermatitis Symptoms of a skin allergy include: A strange rash Red, scaly or itchy skin A swelling of the deeper layers of the skin, such as the eyelids, mouth or genitals Dry, flaking skin Inflamed or blistered skin Skin allergies are painful and unpleasant, but there are things you can do to treat and prevent an allergic skin reaction. Some people are allergic to latex, a substance often found in rubber gloves and balloons. Signs of latex allergy may resemble those of contact dermatitis. But sometimes latex allergy causes a serious reaction called anaphylaxis. This life-threatening condition requires immediate medical treatment. If you think you are having this kind of reaction, call 911 immediately. Skin allergies can take several forms and have a variety of causes. To find out what is causing your skin condition, talk to an allergist/immunologist – a doctor with special training to manage allergies and asthma. An allergist can also help you develop a treatment plan. Eczema and Atopic Dermatitis Eczema, or atopic dermatitis, is a common allergic reaction often affecting the face, elbows and knees. This red, scaly, itchy rash is usually seen in young infants, but can occur later in life in individuals with personal or family histories of other allergic conditions – such as asthma or hay fever. In infants, eczema usually appears as tiny bumps on the cheeks. Older children and adults often experience rashes on the knees or elbows (often in the folds of the joints), on the backs of hands or on the scalp. Itching is the hallmark symptom and can sometimes be very intense. Eczema can appear very dry, with flaking skin, or can have lesions that ooze – often a sign of a bacterial infection caused by scratching. Identifying the cause of the itch is essential in relieving the dermatitis. Common triggers include allergens, overheating or sweating, emotional stress, eating certain foods and contact with irritants such as wool, pets, soaps or other agents. Urticaria (hives) Urticaria, also called hives, are red, itchy, swollen areas of the skin that can range in size and appear anywhere on the body. The blotches can migrate on body, appearing in different areas throughout the course of the reaction. Usually, the cause of urticaria is readily identifiable—often a viral infection, or allergic reaction to drugs, food or latex. These hives usually go away spontaneously or by avoiding the allergic trigger. However, in some cases, medical intervention is needed to increase comfort or prevent recurrence. Treatment with oral antihistamines is frequently successful, but in severe cases, steroids may be needed. Some people have chronic urticaria that occurs almost daily for months or, in some cases, years. For these individuals, scratching, pressure or stress may aggravate hives. An allergist/immunologist can diagnosis the problem and prescribe treatments for this bothersome condition. Angioedema Angioedema is a swelling of the deeper layers of the skin and often occurs with hives. Angioedema itself is not red or itchy and most often occurs in the body’s soft tissue, such as the eyelids, mouth or genitals. Angioedema is called “acute” if the condition lasts only a short time (minutes to days) and does not recur. This is commonly caused by an allergic reaction to medications or foods. Chronic recurrent angioedema occurs when the condition returns over a long period of time. Chronic recurrent angioedema most often does not have an identifiable cause. Contact Dermatitis Contact dermatitis refers to a broad range of reactions resulting from the direct contact of an allergen or irritant with the surface of the skin. A reaction usually appears after one to three days. This type of reaction can develop at any time in life. The skin becomes red, itchy and inflamed, and will frequently blister. Poison ivy is the most common cause, but other plants, metals (such as nickel), cosmetics and medications can also cause a reaction. Allergic contact dermatitis can be treated by scrubbing the skin with soap and water after exposure to the allergen and using prescribed antihistamine and cortisone medications, depending on severity. Avoidance of the irritant is the most effective prevention.

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SINUSITIS

Sinusitis is a painful, long-lasting inflammation of the sinuses. Sinuses are the hollow cavities around the cheek bones found around the eyes and behind the nose. Symptoms of sinusitis include: Congestion Green or gray nasal discharge Postnasal drip Pressure in the face Headache Fever A cough that won’t go away Sinusitis is common in the winter. It may last for months or years if it is not properly treated. Colds are the most common cause of acute sinusitis, but people with allergies are much more likely to develop sinusitis than people who do not have allergies. Sinuses are empty cavities within your cheek bones, around your eyes and behind your nose. Their main job is to warm, moisten and filter air in your nasal cavity. If your stuffy nose and cough last longer than one or two weeks, you may have more than a cold. Sinusitis (pronounced sine-you-SITE-iss) is a swelling of one or more of your nasal sinuses and nasal passages. It is often called a sinus infection. You may experience pressure around your nose, eyes or forehead, a stuffy nose, thick, discolored nasal drainage, bad-tasting post-nasal drip, cough, head congestion, ear fullness or a headache. Symptoms may also include a toothache, tiredness and, occasionally, a fever. By learning more about sinusitis, you will have a better understanding of your symptoms. An allergist/immunologist, often referred to as an allergist, can make an accurate diagnosis and develop a treatment plan that works for you. Types and Causes of Sinusitis Acute sinusitis refers to sinusitis symptoms that last less than four weeks. Most acute sinusitis starts as a regular cold from the common cold viruses and then becomes a bacterial infection. Chronic sinusitis is when symptoms last three months or longer. The cause of chronic sinusitis is believed to be a combination of swelling and infection. Recurrent sinusitis occurs when three or more acute episodes happen in a year. Allergies or “hay fever” put you at risk for developing sinusitis because allergies can cause swelling of the sinuses and nasal mucous linings. This swelling prevents the sinus cavities from draining, and increases your chances of developing secondary bacterial sinusitis. If you test positive for allergies, your allergist can prescribe appropriate medications to control your allergies, possibly reducing your risk of developing an infection. In rare cases, immune problems that harm your ability to fight common infections may present with chronic or recurrent sinusitis. Problems with the structure of your nose-such as narrow drainage passages, tumors or a shifted nasal septum (the bone and cartilage that separate the right from the left nostrils)-can also cause sinusitis. Surgery is sometimes needed to correct these problems. Many patients with recurring or chronic sinusitis have more than one factor that puts them at risk of infection. So, an accurate diagnosis is essential. Diagnosis To diagnose sinusitis, an allergist will take a detailed history and perform a physical examination. He or she may also order tests. These tests can include allergy testing, sinus CT scans (which take exact images of the sinus cavities) or a sample of your nasal secretions or lining. Your physician may also perform an endoscopic examination. This involves inserting a narrow, flexible endoscope (a device with a light attached) into the nasal cavity through the nostrils after local anesthesia. This allows your physician to view the area where your sinuses drain into your nose in an easy, painless manner. Treatment Sinus infections generally require a mix of therapies. Your physician may prescribe a medication to reduce blockage or control allergies, which helps keep the sinus passages open. This medicine may be a decongestant, a mucus-thinning medicine or a steroid nasal spray. If bacterial sinusitis is present, your physician may prescribe an antibiotic. For people with allergies, long-term treatment to control and reduce allergic symptoms can also help in preventing sinusitis. Several non-drug treatments can also be helpful. These include breathing in hot, moist air and washing the nasal cavities with salt water. If you need surgery to fix the structure of your nose, your allergist may refer you to an otorhinolaryngologist, or an ear-nose-throat physician (ENT). Sinusitis Versus Rhinitis Symptoms of sinusitis and rhinitis are very similar. Rhinitis is a swelling of the mucous membranes of the nose while sinusitis includes swelling of the sinuses in addition to the nasal passages. For this reason, sinusitis is often called rhinosinusitis. Rhinitis may be allergic or non-allergic. Allergic rhinitis is caused by allergens in the air, which are usually harmless but can cause problems in allergic people. Symptoms of allergic rhinitis often are a runny nose, sneezing, nasal congestion and itchy eyes, nose, throat and ears. People with non-allergic rhinitis usually just have a stuffy nose. It may be caused by irritants such as smoke, changes in barometric pressure or temperature or overuse of over-the-counter decongestant nasal sprays. Your allergist can perform simple tests to determine if your symptoms are from sinusitis or rhinitis. The American Academy of Allergy, Asthma & Immunology’s brochure on Rhinitis offers also more helpful advice on allergic and non-allergic rhinitis. Healthy Tips  Sinusitis is a swelling of the nose and sinuses. Acute sinusitis occurs when symptoms last less than four weeks. Chronic sinusitis occurs when symptoms last more than three months. People with allergies are at greater risk of getting sinus infections. Treatment for sinusitis is available. See an allergist for help managing your symptoms.

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