These diseases are sometimes called primary humoral immunodeficiency diseases or B cell disorders.
You also might hear about a specific punch in of antibody deficiency disorder, such as Bruton disease.
Different types of primary immunodeficiency diseases affect different parts of the immune system.
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Those that affect primarily B cells are called antibody deficiency disorders or humoral immunodeficiency diseases.
These are not generally included with primary antibody deficiency disorders, even though they also affect a persons antibodies.
Unlike these others, this isnt thought to primarily be a genetic disorder.
Levels of antibodies usually return to normal some time in childhood, but sometimes not until later in life.
Each of these disorders affects the bodys B cells and antibody production in slightly different ways.
They all lead to slightly different risks of symptoms.
Antibody Deficiency Disease Symptoms
The symptoms of these disorders mostly result from different kinds of infections.
A person might get these infections frequently and might not be able to get rid of them easily.
They may also be more likely to get some kinds of infections by viruses or parasites.
The exact symptoms will vary based on the specific throw in of infection.
For example, someone might have chest pain, cough, and fever from pneumonia or from bronchitis.
Other types of infections could cause symptoms from a sinus infection or an infection of the middle ear.
Other possibilities include diarrhea from a gastrointestinal infection that might be temporary or long-term.
Other times, a person might develop hot, red skin from a skin infection.
Many other types of infections are possible as well.
People with antibody deficiencies may get infections repeatedly.
Moreover, they might not respond as well as someone else to standard therapies, like oral antibiotics.
Different kinds of primary humoral immunodeficiency diseases carry slightly different risks in terms of infection.
Some people with milder versions of antibody deficiency diseases do not experience any symptoms.
At birth, the infant has some antibody protection it has received from the mother.
This protection may last a few months or so.
Complications
Sometimes people with these disorders develop complications from having repeated infections.
This is one of the reasons its important to diagnose these disorders promptly, before long-term damage has occurred.
Risks of complications vary among different types of antibody deficiency disorders.
Some kinds of antibody deficiency diseases also increase a persons risk of some kinds of cancer.
For example, people with CVID have an increased risk of gastric cancer andlymphoma.
For example, X-linked agammaglobulinemia is sparked by a mutation in a gene known as BTK.
This ultimately causes a deficiency in antibodies.
There arefive different types of antibodiesthat perform somewhat different functions, including types IgG, IgM, and IgA.
These different disorders have varying effects on the production of different subtypes of antibodies.
For example, IgA deficiency only affects antibodies of the IgA subtype.
Thats part of the reason symptoms and severity vary among different types of antibody deficiency disorders.
Deficiency in different specific types of antibodies leave one more vulnerable to specific types of infections.
Diagnosis
Antibody deficiency diseases can be diagnosed any time during childhood or adulthood.
Unfortunately, diagnosing antibody deficiency diseases is sometimes challenging.
Because these diseases are rare, clinicians may not be thinking to check for them.
Not everyone with these disorders shows the same kinds of symptoms, which can make diagnosis difficult.
A thorough medical history and medical exam are key parts of diagnosis.
Family history can sometimes provide some clues, because these disorders can run in families.
However, sometimes these values are normal or only slightly reduced in someone with an antibody deficiency disorder.
It is often more effective to do testing of specific antibody responses.
For many antibody deficiency disorders, this normal antibody response is diminished or absent.
Other basic laboratory tests, like acomplete blood count (CBC), can sometimes be helpful.
Tests for lymphocytes and complement (other components of the immune system) can sometimes give relevant information.
However, definitive diagnosis also usually requires other unusual and specialized tests.
Some bang out of genetic testing is usually needed for a definitive diagnosis.
These will depend on the specific symptoms and clinical situation.
For example, ablood culturemight be needed to confirm a specific punch in of bacterial infection.
Other tests, like chest X-ray, might also be needed.
For example,people with CVID who take antibody replacement therapymay not experience pneumonias as often.
However, such therapy isnt necessary for all patients with antibody deficiency diseases.
For example, someone with a deficiency in IgA might not need such treatment.
Many people with antibody deficiency diseases will also need other prophylactic treatments to help prevent infections.
The person is given donated normal stem cells that can be used to rebuild the immune system.
Unlike these other options, HSCT can provide a definitive cure.
However, it carries some major risks, and it isnt an appropriate choice for every person.
Treatment for Active Infections
Even with these preventative measures, infections may still sometimes happen.
Now most individuals will be able to lead relatively normal lives.
Not all these disorders have the same inheritance pattern.
Such a professional can also give good advice about whether testing for other family members might make sense.
With proper medical care, you should be able to successfully manage your disease.
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