1. cytotoxic reaction
n.
An immunological reactioninwhich a noncytotropic antibodycombines witha specific
antigen on the surface of a cell and forms a complexthat initiates the activation of
complement, leadingto cell lysis or other damage.
An immune complex, sometimes called an antigen-antibody complex, is a molecule formed
from the integral binding of an antibody to a soluble antigen. The bound antigen and antibody
act as a unitary object, effectively an antigen of its own with a specific epitope.
1. INTRODUCTION
Inflammation, infection, environment and apoptosis all may collectively contribute to the initiation and
perpetuation of autoimmunity and the progression from benign autoimmunity to established autoimmune
disease with its multiple clinical disease manifestations. The elucidation of multiple genetic factors in
various diseases will likely lead to a greater understanding of the diverse manifestations of autoimmune
disease. Autoimmune diseases have complex regulatory mechanisms that influence the host response to
cell injury. Most autoimmune diseases, while increasing in prevalence and severity, are still relatively
uncommon distortions of what are likely common physiologic processes. While the major focus of the
Colloquium was on pathophysiologic mechanisms involved in the initiation phase of autoimmune disease,
important information emerged on processes responsible for clinical expression of disease.
A robust discussion and dialogue raised a number of important topics for future scientific exploration.
The participants identified severalkey goals and recommendations to facilitate the development of
improved disease prevention and treatment strategies for autoimmune disease (Table 1). Whereas the
ultimate goal is to develop cures for autoimmune disease,it was acknowledged that the development of
safer and more clinically effective/efficacious treatment regimens would be a more realistic and still an
extremely challenging endeavor.
Primary immunodeficiency disease definition and facts
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Primary immunodeficiency disease (PIDD) is a disease of the immune system itself,in
contrast to secondary immunodeficiency with a weak immune system as a result of another
condition, like HIV/AIDS.
There are hundreds of different types of primary immunodeficiency disease.
2. Most types of primary immunodeficiencydisease are due to inherited(genetic) defects, so
there is no known way to prevent primary immunodeficiency disease.
Primary immunodeficiency disease is most often diagnosed in infants and children, although
the signs and symptoms may sometimes first appear in later childhood or adulthood.
Signs and symptoms of primary immunodeficiency disease include severe or recurrent
infections such as pneumonia, sinus infections, abscesses, ear infections,or skin infections.
Blood tests to measure immune cell counts, antibodies, and other substances important for
immune function are key to making the diagnosis of primary immunodeficiency disease.
Treatments for primary immunodeficiency disease include antibiotics to fight infectionand
depending upon the cause of the primary immunodeficiencydisease, immune-boosting
therapies.
Stem cell transplantation may be an appropriate treatment for severe or life-threatening
types of primary immunodeficiency disease.
What is primary immunodeficiency disease?
Readers Comments 1
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Primary immunodeficiency disease (PIDD) is a condition in which the immune system is weaker
than normal. The term "primary" implies that there is an independent problem of the immune system
rather than a weakening of the immune system due to another condition like HIV/AIDS (a secondary
immune deficiency).
Primary immunodeficiency disease is most often identified in infants and children, but it is possible
that the condition is identified in adulthood. Primary immunodeficiency disease represents a diverse
group of hundreds of diseases that can weaken the immune system.
Most often, primary immunodeficiency disease results in increased susceptibility to both acute and
chronic (long-term) infections.
3. What are the types and examples of primary immunodeficiency
diseases?
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Primary immunodeficiency disease is a group of multiple different diseases. In fact, the World
Health Organization (WHO) recognizes over 250 diseases that lead to primary immunodeficiency.
The conditions that are immune deficient can include problems with antibody formation, problems
with cell-mediated immune response, or innate immune system disorders.
The types of primary immunodeficiency disease are far too numerous to list here. Examples of some
of the more commonly known primary immunodeficiency diseases include:
Wiscott-Aldrich syndrome
Severe combined immunodeficiency disease (SCID)
DiGeorge syndrome
Ataxia-telangectasia
Chronic granulomatous disease
Transient hypogammaglobulinemia of infancy
Agammaglobulinemia
Complement deficiencies
Selective IgA deficiency
What causes primary immunodeficiency disease and who gets
primary immunodeficiency disease?
Most primary immunodeficiency diseases are inherited, meaning that there is a gene defect present at
birth that leads to the condition. As such, the condition usually is seen in infants or children.
Sometimes, however, the condition may not become apparent until late childhood or even adulthood.
What Is Genetic Counseling?
Genetic counseling provides information and support for individuals, their families, and caregivers about genetic disorders and
diseases for which they may be at risk such as:
4. Fish odor syndrome
Anemia
Diabetes
Deep vein thrombosis (DVT)
Atopic dermatitis
Multiple sclerosis (MS)
Depression
Hay fever
Bipolar disorder
Breast cancer
Asperger syndrome
Learn more about genetic counseling »
What are the symptoms and signs of primary immunodeficiency
disease?
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Many of the specific forms of primary immunodeficiency disease will have symptoms and signs
specific to that condition, but in general, PIDDs are characterized by frequent infections. In
particular, symptoms and signs suggestive of primary immunodeficiency disease can include:
Frequent or hard-to-treat infections
Recurrent pneumonia, sinus infections,or ear infections
Weight loss or delayedgrowth
Enlarged lymph nodes
Enlarged spleen
Recurrent deepabscesses in internal organs
Recurrent skin abscesses
Digestive problems, including nausea, diarrhea, or abdominal cramping
Abnormal blood counts
Is primary immunodeficiency disease inherited?
Most cases of PIDD are genetic, inherited diseases.
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Which types of doctors treat primary immunodeficiency disease?
Immunologists are scientists or doctors who specialize in diseases of the immune system.
Immunologist physicians may manage the treatment of patients with primary immunodeficiency
disease. Infectious disease specialists are also frequently involved in the care of these patients.
Depending on the exact cause of primary immunodeficiency disease, other specialists may be
consulted, including neurologists, hematologists, rheumatologists, internal medicine specialists,
cardiologists, pulmonologists, gastroenterologists, and others.
How is primary immunodeficiency disease diagnosed?
Any patient suspected of having a primary immunodeficiency disease will undergo a thorough
medical examination. Blood tests are typically done to make the diagnosis. Blood tests are done to
6. check for immune cell counts as well as levels of antibodies and other substances necessary for a
functioning immune system. DNA testing may be done to identify a specific genetic defect.
In families with a known history of primary immunodeficiency disease, prenatal testing may be done
to detect genetic problems in the developing fetus.
What is the treatment for primary immunodeficiency disease?
Share Your Story
To treat recurrent infections antibiotics, antiviral medications, and antifungal drugs may be used.
These medications may be stronger than those used to treat infections in people with a normally
functioning immune system and may need to be administered intravenously (IV). Sometimes, long-
term antibiotics are given to prevent the development of infections.
To boost the immune system: The treatment for primary immunodeficiency disease depends upon the
specific defect that is causing the immune system to malfunction. Examples of immune system
treatments include:
Intravenous or subcutaneous immunoglobulins to provide antibodies to fight infection
Growth factor therapy if immune function deficiencyis due to lack of certain immune cells
Gamma interferon therapy involvesadministering a synthetic interferon (a substance that
strengthens the immune system). This treatment is used for patients with chronic
granulomatous disease.
Stem cell transplantation can be used to replace the defective immune system in patients with severe
or life-threatening types of primary immunodeficiency disease. This requires a stem cell donor that is
a biologic match to the patient. Typically, the patient's immune system is destroyed
via chemotherapy and/or radiation therapy, and the normal stem cells are transferred to the patient.
Stem cell transplantation has a number of risks and is not always successful, but it can offer some
patients with primary immunodeficiency disease a permanent cure.
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How can I help care for my child with primary immunodeficiency
disease?
You can help your child with primary immunodeficiency disease by learning as much about the
condition as possible, and helping your child through any challenges he or she may face. Many
patients and families find it helpful to talk to another affected family or participate in a support group
(support groups).
You also can help your child take steps to avoid as many infections as possible, including
good hygiene practices,
avoiding exposure to contagious illness,and
ensuring that he or she receivesall appropriate childhood, adolescent, and adult
vaccinations.
8. Maintaining a healthy diet and getting adequate exercise and sleep also can help the body fight
infections.
Can primary immunodeficiency disease be prevented?
Because most cases of primary immunodeficiency disease result from an inherited gene defect, there
is no way to prevent their occurrence.
What the prognosis for a child with primary immunodeficiency
disease?
Because primary immunodeficiency disease represents a group of hundreds of different diseases, it is
not possible to assign a prognosis to this group of conditions in general. Many children and adults
with primary immunodeficiency disease can attend school or work and maintain productive lives.
What support groups are available for primary immunodeficiency
disease?
The Immune Deficiency Foundation offers a number of support and educational resources,
including peer support programs. Your treatment center or care team may also have information
about specific support programs in your area.
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PRIMARYIMMUNODEFICIENCYDISEASE(PIDD) CENTER
References
CompleteList
10. Top Primary Immunodeficiency Disease PIDD Related Articles
Ear Infection Slideshow
Learn aboutthecausesandsymptomsof ear infectionsand howthey arediagnosed andtreated.Read abouttreatments
such as ear tubes and antibiotics, which could prevent future ear infections.
Bacterial Infections101
Learn moreaboutbacteriaand themostcommon bacterial infections.Getmoreinformationon bacterial skininfections,
which bacteria cause food poisoning, sexually transmitted bacteria, and more.
Cold or Flu: How Do You Know?
Learn common symptoms of a coldand theflu.Discoverthedifferencebetween a cold and theflu.Read about cold and
flu treatments such as over-the-counter medicines.
11. Diarrhea
Diarrhea is a change is the frequency and looseness of bowel movements. Symptoms associated with diarrhea are
cramping,abdominal pain,andthesensation of rectal urgency.Causesof diarrhea include viral, bacterial, or parasite
infection, gastroenteritis, food poisoning, and drugs. Absorbents and anti -motility medications are used to treat
diarrhea.
Ear Infection
Middleear infection(otitismedia) isinflammation of themiddle ear. There are two forms of this type of ear infection,
acuteand chronic.Acuteotitismedia is generally short in duration, and chronic otitis media generally lasts several
weeks. Babies, toddlers, and children with a middle ear infection may be irritable, pull and tug at their ears, and
experience numerous other symptoms and signs. Treatment depends upon the type of ear infection.
Ear Infection Quiz
Is itpossibleto preventear infections? TaketheEar Infection (Otitis Media) Quiz to learn the risks, causes, symptoms
and treatments for the common ear infection.
Enlarged Spleen
An enlarged spleen or splenomegaly,isgenerally caused by other diseases or conditions such as infections, cancers,
blood disorders,or decreased blood flow. Symptoms of an enlarged spleen are often unnoticed. A feeling of fullness
after eatinga small amount of food and not being able to eat large meals may be a symptom of an enlarged spleen.
Treatment for an enlarged spleen depends upon the cause.
12.
HeadachesQuiz
If you'replagued with headaches,our HeadachesQuizmay helpyou identifycauses,triggers,symptoms,and treatments
for headache pain caused by different types of headaches such as migraines, sinus, cluster, tension, or stress.
Is a SinusInfection Contagious
Sinus infection (sinusitis) is infection (viral, bacterial, or fungal) or inflammation of the sinuses. Symptoms of sinus
infection are cough,bad breath,coughing up greenish-yellowsputum,sinus headache,andothersymptoms ofthe common
cold.Treatments ofsinusinfectionare home remedies to soothe symptoms and antibiotics if the infection is bacterial or
fungal.
Is Pneumonia Contagious
Pneumonia isinflammationof thelungusually caused by bacterial or viral infection (rarely,alsoby fungi) thatcauses the
air sacsto fill with pus.If inflammation affects both lungs, the infection is termed double pneumonia. If it affects one
lung, it is termed single pneumonia. If it affects only a certain lobe of a lung it's termed lobar pneumonia. Most
pneumoniasarecaused by bacteria and viruses, but some pneumonias are caused by inhaling toxic chemicals that
damage lung tissue.
13.
Nausea and Vomiting
Nausea is an uneasiness ofthe stomachthat often precedes vomiting.Nausea and vomiting are not diseases, but they are
symptoms ofmany conditions.There are numerous cases ofnausea and vomiting. Some causes may not require medical
treatment,forexample, motion sickness,and other causes may require medical treatment by a doctor, for example, heart
attack, lung infections, bronchitis, and pneumonia.
Some causes of nausea and vomiting may be life threatening, for example, heart attack, abdominal obstruction, and
cancers.
Treatment of nausea and vomiting depends upon the cause.
Pneumonia Facts
Pneumonia isinflammationof thelungs caused by fungi,bacteria,or viruses.Symptomsand signs include cough, fever,
shortnessof breath,and chills.Antibioticstreat pneumonia,and thechoiceof theantibiotic depends upon the cause of
the infection.
Sinusitis
Sinus infection (sinusitis)is caused by allergies,infection,and chemicals orother irritants ofsinuses.Signs and symptoms
are headache,fever,and facialtenderness,pressure,orpain.Treatments ofsinus infections are generally with antibiotics
and at times, home remedies.
14.
SinusitisSlideshow
Sinus infection(sinusitis) symptoms can include headaches, a sore throat, and toothaches. Chronic sinusitis may be
caused by allergiesand can lastup to threemonths.Antibioticsandhomeremedies can relievesinusinfection (sinusitis)
symptoms.
Swollen Lymph Nodes
Lymph nodes help the body's immune system fight infections. Causes of swollen lymph nodes (glands) may include
infection (viral,bacterial,fungal,parasites).Symptomsof swollen lymph nodesvary greatly,butmay include fever, night
sweats,toothache,sorethroat,or weightloss.Causes of swollen lymph nodes also vary, but may include cancer, the
common cold, mono, chickenox, HIV, and herpes. The treatment of swollen lymph nodes depends upon the cause.
Tummy Trouble Quiz
Tummy Troubles? Geta better idea of what's causingthenausea,vomiting,bloating,gas, constipation, diarrhea, pain,
and other gastrointestinal discomforts and problems. Take the Tummy Troubles Quiz!
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NEWSLETTERS
secondary immune deficiency disease
occurs when the immune system is
compromised due to an environmental
16. factor. ... In contrast,
primary immunodeficiency diseases
(PIDD) are a group of disorders caused by
inherited or genetic defects in the cells and
tissues of the immune system.
The following can cause a secondary
immunodeficiency disorder: severe burns.
chemotherapy.
...
Examples of secondary
immunodeficiency disorders include:
AIDS.
cancers of the immune system, like
leukemia.
immune-complex diseases, like viral
hepatitis.
multiple myeloma (cancer of the plasma
cells, which produce antibodies)