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Inherited Metabolic Disorders

Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.

What Is Metabolism?

Metabolism refers to all the chemical reactions taking place in the body to convert or use energy. A few major examples of metabolism include:

Breaking down the carbohydrates, proteins, and fats in food to release energy.

Transforming excess nitrogen into waste products excreted in urine.

Breaking down or converting chemicals into other substances and transporting them inside cells.

Metabolism is an organized but chaotic chemical assembly line. Raw materials, half-finished products, and waste materials are constantly being used, produced, transported, and excreted. The "workers" on the assembly line are enzymes and other proteins that make chemical reactions happen.

Causes of Inherited Metabolic Disorders

In most inherited metabolic disorders, a single enzyme is either not produced by the body at all or is produced in a form that doesn't work. The missing enzyme is like an absentee worker on the assembly line. Depending on that enzyme's job, its absence means toxic chemicals may build up, or an essential product may not be produced.

The code or blueprint to produce an enzyme is usually contained on a pair of genes. Most people with inherited metabolic disorders inherit two defective copies of the gene -- one from each parent. Both parents are "carriers" of the bad gene, meaning they carry one defective copy and one normal copy.

In the parents, the normal gene copy compensates for the bad copy. Their enzyme levels are usually adequate, so they may have no symptoms of a genetic metabolic disorder. However, the child who inherits two defective gene copies cannot produce enough effective enzyme and develops the genetic metabolic disorder. This form of genetic transmission is called autosomal recessive inheritance.

The original cause of most genetic metabolic disorders is a gene mutation that occurred many, many generations ago. The gene mutation is passed along through the generations, ensuring its preservation.

Each inherited metabolic disorder is quite rare in the general population. Considered all together, inherited metabolic disorders may affect about 1 in 1,000 to 2,500 newborns. In certain ethnic populations, such as Ashkenazi Jews (Jews of central and eastern European ancestry), the rate of inherited metabolic disorders is higher.

Types of Inherited Metabolic Disorders

Hundreds of inherited metabolic disorders have been identified, and new ones continue to be discovered. Some of the more common and important genetic metabolic disorders include:

Lysosomal storage disorders: Lysosomes are spaces inside cells that break down waste products of metabolism. Various enzyme deficiencies inside lysosomes can result in buildup of toxic substances, causing metabolic disorders including:

Hurler syndrome (abnormal bone structure and developmental delay)

Niemann-Pick disease (babies develop liver enlargement, difficulty feeding, and nerve damage)

Tay-Sachs disease (progressive weakness in a months-old child, progressing to severe nerve damage; the child usually lives only until age 4 or 5)

Gaucher disease (bone pain, enlarged liver, and low platelet counts, often mild, in children or adults)

Fabry disease (pain in the extremities in childhood, with kidney and heart disease and strokes in adulthood; only males are affected)

Krabbe disease (progressive nerve damage, developmental delay in young children; occasionally adults are affected)

Galactosemia: Impaired breakdown of the sugar galactose leads to jaundice, vomiting, and liver enlargement after breast or formula feeding by a newborn.

Maple syrup urine disease: Deficiency of an enzyme called BCKD causes buildup of amino acids in the body. Nerve damage results, and the urine smells like syrup.

Phenylketonuria (PKU): Deficiency of the enzyme PAH results in high levels of phenylalanine in the blood. Intellectual disability results if the condition is not recognized.

Glycogen storage diseases: Problems with sugar storage lead to low blood sugar levels, muscle pain, and weakness.

Mitochondrial disorders: Problems inside mitochondria, the powerhouses of cells, lead to muscle damage.

Friedreich ataxia: Problems related to a protein called frataxin cause nerve damage and often heart problems. Inability to walk usually results by young adulthood.

Peroxisomal disorders: Similar to lysosomes, peroxisomes are tiny spaces filled with enzymes inside cells. Poor enzyme function inside peroxisomes can lead to buildup of toxic products of metabolism. Peroxisomal disorders include:

Zellweger syndrome (abnormal facial features, enlarged liver, and nerve damage in infants)

Adrenoleukodystrophy (symptoms of nerve damage can develop in childhood or early adulthood depending on the form.)

Metal metabolism disorders: Levels of trace metals in the blood are controlled by special proteins. Inherited metabolic disorders can result in protein malfunction and toxic accumulation of metal in the body:

Organic acidemias:methylmalonic acidemia and propionic acidemia.

Urea cycle disorders:ornithine transcarbamylase deficiency and citrullinemia

Symptoms of Inherited Metabolic Disorders

The symptoms of genetic metabolic disorders vary widely depending on the metabolism problem present. Some symptoms of inherited metabolic disorders include:

The symptoms may come on suddenly or progress slowly. Symptoms may be brought on by foods, medications, dehydration, minor illnesses, or other factors. Symptoms appear within a few weeks after birth in many conditions. Other inherited metabolic disorders may take years for symptoms to develop.

Diagnosis of Inherited Metabolic Disorders

Inherited metabolic disorders are present at birth, and some are detected by routine screening. All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia. However, no state tests babies for all known inherited metabolic disorders.

Improved testing technology is leading many states to expand newborn screening for genetic metabolic disorders. The National Newborn Screening and Genetics Resources Center provides information on each state's screening practices.

If an inherited metabolic disorder is not detected at birth, it is often not diagnosed until symptoms appear. Once symptoms develop, specific blood or DNA tests are available to diagnose most genetic metabolic disorders. Referral to a specialized center (usually at a university) increases the chances of a correct diagnosis.

Treatment of Inherited Metabolic Disorders

Limited treatments are available for inherited metabolic disorders. The essential genetic defect causing the condition can't be corrected with current technology. Instead, treatments try to work around the problem with metabolism.

Treatments for genetic metabolic disorders follow a few general principles:

Reduce or eliminate intake of any food or drug that can't be metabolized properly.

Replace the enzyme or other chemical that is missing or inactive, to restore metabolism to as close to normal as possible.

Remove toxic products of metabolism that accumulate due to the metabolic disorder.

Treatment may include such measures as:

Special diets that eliminate certain nutrients

Taking enzyme replacements, or other supplements that support metabolism

Treating the blood with chemicals to detoxify dangerous metabolic by-products

Whenever possible, a person with an inherited metabolic disorder should receive care at a medical center with experience with these rare conditions.

Children and adults with inherited metabolic disorders can become quite ill, requiring hospitalization and sometimes life support. Treatment during these episodes focuses on emergency care and improving organ function.

All About Common Skin Disorders

Skin disorders, such as acne and eczema, vary greatly in symptoms and severity. They can be temporary or permanent and may be painless or painful. Some can be life threatening.

Some skin disorders have situational causes, while others may be genetic. While most skin disorders are minor, others can indicate a more serious issue.

Contact a doctor if you believe you may have one of these common skin problems.

There are many different types of skin disorders. Here are pictures of 25 different conditions, followed by a list of details for each.

Acne

Acne is commonly located on the face, neck, shoulders, chest, and upper back.

Breakouts on the skin are composed of redness, blackheads, whiteheads, pimples, or deep, painful cysts and nodules.

This condition may leave scars or darken the skin if untreated.

People of Color can experience dark spots known as post-inflammatory hyperpigmentation (PIH).

Learn more about acne.

Cold sore

This condition causes a red, painful, fluid-filled blister that appears near the mouth and lips. People with lighter skin may notice more redness than those with darker skin.

The affected area will often tingle or burn before the sore is visible.

Outbreaks may also be accompanied by mild, flu-like symptoms such as low fever, body aches, and swollen lymph nodes.

Cold sores usually look similar on any skin color but can also cause PIH in people with darker skin.

Learn more about cold sores and cold sores on dark skin.

Blister

Blisters are characterized by a watery, clear, fluid-filled area on the skin.

They may be smaller than 1 centimeter (cm) (vesicle) or larger than 1 cm (bulla) and can occur alone or in groups.

Blisters can be found anywhere on the body.

Learn more about blisters.

Hives

This causes itchy, raised welts that occur after exposure to an allergen.

Welts may be warm and mildly painful to the touch.

Hives on darker skin can appear raised or inflamed and might be slightly darker or lighter than your natural skin color. On lighter skin, hives usually appear red.

They can be small, round, ring-shaped, or randomly shaped.

Learn more about hives.

Actinic keratosis

This condition causes a thick, scaly, or crusty skin patch.

It's typically less than 2 cm or about the size of a pencil eraser.

It often appears on parts of the body that receive a lot of sun exposure, such as the hands, arms, face, scalp, and neck.

The skin patch is usually pink in color but can have a brown, tan, or gray base. This patch may appear the same color as the surrounding skin in people with darker skin.

Learn more about actinic keratosis.

Rosacea

This chronic skin disease goes through cycles of fading and relapse.

Relapses may be triggered by spicy foods, alcoholic beverages, sunlight, stress, and the intestinal bacteria Helicobacter pylori.

There are four subtypes of rosacea encompassing a wide variety of symptoms.

Common symptoms include facial flushing, raised red bumps, skin dryness, and skin sensitivity.

People with darker skin tones may notice brown discoloration or dry and swollen patches of dark skin.

Learn more about rosacea.

Carbuncle

This causes a red, painful, and irritated lump under your skin.

It may be accompanied by fever, body aches, and fatigue.

It can also cause skin crustiness or oozing.

It may appear more violet on darker skin.

Learn more about carbuncles.

Latex allergy

This condition is considered a medical emergency. Urgent care may be required. Contact 911 or local emergency services.

This causes a rash, which may occur within minutes to hours after exposure to a latex product. It may be less visible on darker skin or appear lighter or darker than surrounding tissue.

It also causes warm, itchy wheals at the site of contact, which may take on a dry, crusted appearance with repeated exposure to latex.

Airborne latex particles may cause cough, runny nose, sneezing, and itchy, watery eyes.

A severe allergy to latex can cause swelling and difficulty breathing.

Learn more about latex allergies.

Eczema

Eczema is characterized by yellow or white scaly patches that flake off.

Affected areas may be itchy, greasy, or oily.

On light skin, eczema can cause a red rash. This rash may appear brown, purple, or gray on darker skin.

Hair loss may also occur in the area with the rash.

Learn more about eczema.

Psoriasis

This causes scaly, silvery, sharply defined skin patches. Darker skinned people might also experience dark brown or purplish patches on the skin.

Patches are commonly located on the scalp, elbows, knees, and lower back.

This condition may be itchy or asymptomatic.

Learn more about psoriasis.

Cellulitis

Cellulitis is a medical emergency. A person should contact 911 or local emergency services if they have any symptoms of cellulitis.

Cellulitis is caused by bacteria or fungi entering through a crack or cut in the skin.

It causes painful swollen skin with or without oozing that spreads quickly.

The skin might appear red on lighter skin. However, this may be less noticeable on darker skin tones.

The skin may feel hot and tender to the touch.

Fever, chills, and red streaking from the rash might be symptoms of a serious infection requiring medical attention.

Learn more about cellulitis.

Measles

Symptoms of measles include fever, sore throat, red or watery eyes, loss of appetite, cough, and runny nose.

It also causes a red rash, which spreads from the face down the body 3 to 5 days after the first symptoms appear. This rash might be more difficult to see on darker skin.

Tiny red spots with blue-white centers may appear inside the mouth.

Measles may cause more obvious PIH in People of Color

Learn more about measles.

Basal cell carcinoma

This condition is often characterized by raised, firm, and pale areas that may resemble a scar.

It can cause dome-like, pink or red, shiny, and pearly areas that may have a sunk-in center, like a crater. For people with dark skin, it might appear darker and less pearly.

Blood vessels on the growth may be visible.

It might cause easy bleeding or an oozing wound that doesn't seem to heal or heals and then reappears.

Learn more about basal cell carcinoma.

Squamous cell carcinoma

This condition often occurs in areas exposed to ultraviolet (UV) radiation, such as the face, ears, and back of the hands.

It may be characterized by a scaly, reddish patch of skin, which progresses to a raised bump that continues to grow. The bump may be lighter on darker skin.

It can also cause a growth that bleeds easily, doesn't heal, or heals and then reappears.

Learn more about squamous cell carcinoma.

Melanoma

This is the most serious form of skin cancer, which is more common in people with light skin.

It can appear anywhere on the body as a mole that has irregularly shaped edges, asymmetrical shapes, and multiple colors. In People of Color, melanoma often appears in areas that are less exposed to the sun.

It might also appear as a mole that has changed color or gotten bigger over time, which is usually larger than a pencil eraser.

Learn more about melanoma.

Lupus

Lupus symptoms include fatigue, headaches, fever, and swollen or painful joints.

It can cause a scaly, disc-shaped rash that doesn't itch or hurt.

Scaly red patches or ring shapes are most commonly located on the shoulders, forearms, neck, and upper torso and worsen with exposure to sunlight. People of Color have a greater risk of developing PIH and abnormal scarring.

It also causes a warm, brown, or red rash that spreads across the cheeks and bridge of the nose like butterfly wings and worsens in the sun.

Learn more about lupus.

Contact dermatitis

This condition appears hours to days after contact with an allergen.

It causes a rash with visible borders and appears where your skin touched the irritating substance.

The skin may be itchy, scaly, or raw. Lighter skin can appear red, while darker skin may appear purple, gray, or dark brown.

It might also cause blisters that weep, ooze, or become crusty.

Learn more about contact dermatitis.

Vitiligo

Vitiligo is characterized by loss of pigment in the skin due to autoimmune destruction of the cells that give skin its color.

Focal vitiligo causes loss of skin color in only a few small areas, which may merge together.

Segmental pattern vitiligo causes depigmentation on one side of the body.

Vitiligo can also cause premature graying of the scalp or facial hair.

People of different skin tones will usually develop skin patches much lighter than their natural skin tone. In people with darker skin, it tends to be more noticeable, which may cause increased stigma related to the condition.

Learn more about vitiligo.

Wart

Warts are caused by many different types of a virus called the human papillomavirus (HPV).

They may be found on the skin or mucous membranes and can occur singly or in groups.

Warts are contagious and may be passed to others. They may appear darker on skin of color.

Learn more about warts.

Chickenpox

This can cause clusters of itchy, red or brown, fluid-filled blisters in various stages of healing all over the body.

The rash is accompanied by fever, body aches, sore throat, and loss of appetite.

Chickenpox remains contagious until all blisters have crusted over.

Chickenpox can be harder to see on darker skin.

Learn more about chickenpox.

Seborrheic eczema

This condition is characterized by yellow or white scaly patches that flake off.

Affected areas may be red, itchy, greasy, or oily.

People with darker skin may also notice hypopigmentation, or loss of skin color, in affected areas.

Hair loss may occur in the area with the rash.

Learn more about seborrheic eczema.

Keratosis pilaris

This common skin condition is most often seen on the arms and legs but might also occur on the face, buttocks, and trunk.

It often clears up on its own by age 30.

It often causes patches of skin that appear bumpy, appear slightly red, and feel rough.

Symptoms may get worse in dry weather.

The hair follicles may look darker than the surrounding skin on darker skin. They'll usually look red or purple on lighter skin.

Learn more about keratosis pilaris.

Ringworm

This condition causes circular, scaly rashes with a raised border.

Skin in the middle of the ring might appear clear and healthy, and the ring's edges may spread outward.

The skin often feels itchy.

The ring is usually red or pink on light skin and brown or gray on darker skin.

Learn more about ringworm.

Melasma

This common skin condition causes dark patches to appear on the face and — rarely — the neck, chest, or arms.

Melasma is more common in pregnant people (chloasma) and individuals with a darker skin color or heavy sun exposure.

It might not cause other symptoms beyond skin discoloration.

It may go away on its own within a year or may become permanent.

Learn more about melasma.

Impetigo

This condition is common in babies and children.

It usually causes an irritating rash, which is often located in the area around the mouth, chin, and nose.

It might also cause fluid-filled blisters that pop easily and form a honey-colored crust.

It may be harder to see on darker skin.

Learn more about impetigo.

Contact dermatitis

Contact dermatitis is one of the most common occupational illnesses, often resulting from contact with chemicals or other irritating materials.

These substances can trigger a reaction that causes the skin to become itchy and inflamed. Affected areas might also appear red, purple, gray, or dark brown. Most cases of contact dermatitis aren't severe, but they can be rather itchy.

Topical creams and avoiding the irritant are typical treatments.

Keratosis pilaris

Keratosis pilaris is a minor condition that causes small, rough bumps on the skin. These bumps usually form on the upper arms, thighs, or cheeks. They're typically red or white and don't hurt or itch.

Treatment isn't necessary, but medicated creams can improve skin appearance.

Some chronic skin conditions present from birth, while others appear suddenly later.

The cause of these disorders isn't always known. Many permanent skin disorders have effective treatments that enable extended periods of remission. However, they're incurable, and symptoms can reappear at any time.

Examples of chronic skin conditions include:

rosacea, which is characterized by small, pus-filled bumps on the face

psoriasis, which causes scaly, itchy, and dry patches

vitiligo, which results in large, irregular patches of lighter skin

Skin disorders are common in children. Children can experience many of the same skin conditions as adults. Infants and toddlers are also at risk of diaper-related skin problems.

Since children have more frequent exposure to other children and germs, they may also develop skin disorders that rarely occur in adults.

Many childhood skin problems disappear with age, but children can also inherit permanent skin disorders. In most cases, doctors can treat childhood skin disorders with topical creams, medicated lotions, or condition-specific drugs.

Common childhood skin disorders include:

Skin conditions have a wide range of symptoms. Symptoms on your skin that appear due to common problems aren't always the result of a skin disorder. Such symptoms can include blisters from new shoes or chafing from tight pants.

However, skin problems with no obvious cause may indicate the presence of a skin disorder that requires treatment.

Skin irregularities that are typically symptoms of a skin disorder include:

Common known causes of skin disorders include:

bacteria trapped in skin pores and hair follicles

fungus, parasites, or microorganisms living on the skin

viruses

a weakened immune system

contact with allergens, irritants, or another person's infected skin

genetic factors

illnesses affecting the thyroid, immune system, kidneys, and other body systems

Numerous health conditions and lifestyle factors can also lead to the development of certain skin disorders. Some skin conditions have no known cause.

Inflammatory bowel disease

Inflammatory bowel disease is a term for a group of intestinal disorders that cause prolonged inflammation of the digestive tract. These bowel-related disorders often cause skin problems.

The drugs used to treat these diseases can cause certain skin conditions, such as:

Diabetes

Many people with diabetes experience a skin problem due to their condition at some point.

Some of these skin disorders only affect people with diabetes. Others occur more frequently in people with diabetes because the disease increases the risk of infection and blood circulation problems.

Diabetes-related skin conditions include:

Lupus

Lupus is a chronic inflammatory disease that can damage the skin, joints, or organs inside the body. Common skin problems that occur from lupus include:

a red, butterfly-shaped rash on the cheeks and nose

round lesions on the face and head

thick, red, scaly lesions

red, ring-shaped lesions on body parts exposed to sunlight

flat rash on the face and body that looks like a sunburn

red, purple, or black spots on fingers and toes

sores inside the mouth and nose

tiny red spots on the legs

Pregnancy

Pregnancy causes significant changes in hormone levels that may lead to skin problems. Preexisting skin problems may change or get worse during pregnancy. Most skin conditions that arise during pregnancy go away after the baby is born. Others require medical attention during pregnancy.

Common skin conditions caused by pregnancy include:

Stress

Stress can cause hormonal imbalances, which may trigger or aggravate skin disorders. Stress-related skin problems include:

Sun

The sun can cause many different skin disorders. Some are common and harmless, while others are rare or life threatening. Knowing if the sun causes or worsens your skin disorder is important for treating it properly.

Sunlight exposure may cause or aggravate the following conditions:

Many skin disorders are treatable. Common treatment methods for skin conditions include:

antihistamines

medicated creams and ointments

antibiotics

vitamin or steroid injections

laser therapy

targeted prescription medications

biologics

Skin flare-ups

Not all skin disorders respond to treatment, and some conditions go away without treatment.

People with permanent skin conditions often go through periods of severe symptoms. Sometimes people are able to force incurable conditions into remission. However, most skin conditions reappear due to certain triggers, such as stress or illness.

You can often treat skin disorders that are temporary and cosmetic with:

medicated makeup

over-the-counter (OTC) skin care products

good hygiene practices

small lifestyle adjustments, such as making certain dietary changes

Certain skin disorders aren't preventable, including genetic conditions and some skin problems due to other illnesses. However, it's possible to prevent some skin disorders.

Follow these tips to prevent infectious skin disorders:

Wash your hands with soap and warm water frequently.

Avoid sharing eating utensils and drinking glasses with other people.

Avoid direct contact with the skin of other people who have an infection.

Clean things in public spaces, such as gym equipment, before using them.

Don't share personal items like blankets, hairbrushes, or swimsuits.

Sleep for at least 7 hours each night.

Drink plenty of water.

Avoid excessive physical or emotional stress.

Eat a nutritious diet.

Get vaccinated for infectious skin conditions, such as chickenpox.

Noncontagious skin disorders

Noninfectious skin disorders, such as acne and atopic dermatitis, are sometimes preventable. Prevention techniques vary depending on the condition. Here are some tips for preventing some noninfectious skin disorders:

Wash your face with a gentle cleanser and water every day.

Use moisturizer.

Avoid environmental and dietary allergens.

Avoid contact with harsh chemicals or other irritants.

Sleep for at least 7 hours each night, as many skin conditions can worsen due to lack of sleep.

Drink plenty of water.

Eat a balanced diet.

Protect your skin from excessive cold, heat, and wind.

Learning about proper skin care and treatment for skin disorders can be very important for skin health. Some conditions require a doctor's attention, while you can address others safely at home.

You should learn about your symptoms or condition and talk with a doctor to determine the best treatment methods.

What are the most common skin disorders?

According to the American Academy of Dermatology Association, acne is the most common skin condition in the United States. Other common skin disorders include atopic dermatitis, hair loss, and rosacea.

What is the most serious skin disease?

There are several serious skin conditions. In particular, melanoma is a type of skin cancer that can be especially dangerous, as it could spread to other parts of the body if not caught early. Cellulitis and latex allergy can also be very serious if left untreated.

Which skin disease is not curable?

A few examples of chronic skin conditions include rosacea, psoriasis, and vitiligo. While these conditions can't be cured, some may have treatments available to help manage symptoms.

Insights Into Causes Of Rare Genetic Immune Disorders

The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research. The disorder is caused by genetic variations that disrupt immune cell signaling through a protein called PI3K.

"This study tells us how signaling in the immune system needs to be tightly balanced to make an effective response to infection. Sometimes it's turned down and you have a problem, and sometimes signaling being turned up can interfere with an immune response," says Associate Professor Elissa Deenick, Head of the Lymphocyte Signaling and Activation Lab, co-Lead of the Precision Immunology Program at Garvan and senior author of the paper, published in the Journal of Experimental Medicine.

PI3K plays a crucial role in activating immune cells for growth, proliferation, survival, migration and function. The researchers found that the genetic variations in APDS2 and a similar disorder, APDS1, alter PI3K signaling in different ways, leading to distinct effects on the immune system.

The APDS disorders are similar in their impacts but follow different genetic pathways. Variations in the PIK3R1 gene underlie APDS2, while variations in PIK3CD underlie APDS1. Though both result in increased PI3K signaling, their subtle differences—in specific cells, timescales, and mechanisms—yield distinct immune effects. In APDS2, fewer responding B cells are generated in response to vaccination, whereas in APDS1, the number of T cells is reduced. But in both cases, the disorders result in poor antibody responses. In addition, APDS2 variations appear to affect non-immune cells, resulting in growth delays.

These results also tell us about the signals that are required to achieve good vaccine responses in general. "Even for people who don't have these two rare genetic conditions, other genes can impact these pathways—which could contribute to why different people have varied responses to vaccinations," says Dr. Tina Nguyen, co-lead author of the study and Research Officer at Garvan.

The findings reveal how finely tuned immune cell signaling must be, and how even minor disruptions can lead to immune deficiency or dysfunction. They are a significant step towards understanding the molecular processes and developing more targeted and effective treatments for the disorders.

"People with mysterious conditions often face challenges in obtaining an accurate diagnosis and understanding the root causes of their health issues. With better access to genomic testing, it's going to become much easier for patients to receive diagnoses for conditions like APDS2. Knowing the genetic basis of a disease can enable targeted, personalized treatment plans that give patients the best chance of effective management or, hopefully over time, a cure," says Professor Stuart Tangye, a senior investigator of the paper and Head of the Immunobiology and Immunodeficiency Lab at Garvan.

The next step is to study how to track individual responses to treatment, developing blood tests to monitor immune health and dysfunction in order to give the right drug, at the right dose, at the right time.

More information: Tina Nguyen et al, Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3K- delta syndrome 2, Journal of Experimental Medicine (2023). DOI: 10.1084/jem.20221020

Citation: Insights into causes of rare genetic immune disorders (2023, March 21) retrieved 26 March 2023 from https://medicalxpress.Com/news/2023-03-insights-rare-genetic-immune-disorders.Html

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