PowerPoint 6 - Primary Immune Deficiency Disorders

What is primary immune deficiency (PID)?

Poor or absent function in one or more components of the immune system

What does primary immune deficiency (PID) cause?

Frequent, persistent, server, or unusual infections

What are some common infections those with primary immune deficiency (PID) get?

Sinus infection, ear infection, RSV, cold, and influenza

What are some unusual infections people with primary immune deficiency (PID) get?

Sepsis, fungal, and yeast infections (oral thrush and oral candidiasis, tuberculosis)

What is the usual cause of primary immune deficiency (PID)?

Genetic (Consider family history)

PID involvement in adaptive immunity involves what?

Antibody (primarily a B cell problem) deficiencies (most common)

T cell deficiencies

Combined B and T cell deficiencies

PID involvement in innate immunity involves what?

Phagocyte deficiencies

Complement deficiencies

What is not PID?

Acquired immunodeficiency syndromes (HIV (AIDS))

Viral or bacterial infections (measles causes an “immune amnesia” erasing 11-73% of the antibody library)

Malnutrition

Malignancy

Immunosuppression therapies (autoimmune deficiencies (rheumatoid arthritis), organ transplants, cancers, chronic steroid use)

What does measles do to immune system?

“Immune amnesia” erasing 11-73% of antibody library

What are common symptoms of PID in adults?

Basically they get sick a lot (that’s really what we need to remember)

2 or more ear infections a year, yearly pneumonia, 2 or more…

What are the common symptoms of PID in children?

4 or more ear infections a year

2 months of antibiotic (abx) treatment with no effect

Failure to gain weight as an infant

2 or more deep-seated infections (sepsis)

What is the most common primary immunodeficiency?

Selective IgA deficiency

What is noticeable in labs of selective IgA deficiency?

Low IgA

Normal IgG

Normal IgM

What are the symptoms of selective IgA deficiency?

Usually none and found out incidentally

Some have recurrent bacterial infections (sinusitis, otitis, bronchitis, GI)

What may happen if we give plasma or blood infusion with someone that has selective IgA deficiency?

Anaphylactic reaction

What is common variable immunodeficiency?

Recurrent, severe sinopulmonary infections that are not due to other causes (such as COPD)

What is a sign of common variable immunodeficiency?

Inadequate vaccination responses

What do the labs show when someone has common variable immunodeficiency?

Low IgG, IgM, and sometimes undetectable IgA

What cell is not working properly in common variable immunodeficiency?

B cells (specifically plasma cells that aren’t working properly)

What is specific antibody deficiency?

Inadequate IgG antibody response to vaccines

What are signs of specific antibody deficiency?

Mild symptoms that require antibiotic to recurrent infections

What does specific antibody deficiency mimic?

Common variable immunodeficiency

If someone has a history of immune deficiency and has low IgG only, what do they have?

Specific antibody deficiency

If someone has a history of immune deficiency and has low IgA only, what do they have?

Selective IgA deficiency

If someone has a history of immune deficiency and has low IgG and IgM with undetectable IgA, what do they have?

Common variable immunodeficiency

How do infants that have severe combined immunodeficiency (SCID) show it?

Appear healthy at first but are highly susceptible to severe infection

What is the term we have for those that have SCID?

Bubble babies

What is the outlook for infants born with SCID without treatment?

Fatal within 1-2 years

What happens in SCID?

Infants make few or no T cells with or without B cell (no adaptive immunity)

What should we NOT give patients that have SCID?

Live attenuated vaccines (MMR, Varicella)

What is the supportive treatment for SCID?

Manage current infections

Immunoglobulin replacement therapy (IgG-RT)

Antibiotic, antifungal prophylaxis

What is the definitive treatment for SCID?

Hematopoietic stem cell transplant or bone marrow transplant

(the problem is genetic)

What weakens the first line of defense?

Burn victims, smoking, IV drug use (by passes first defense), Sjogren syndrome (decreased tear and mucous secretion)

What weakens second line of defense?

Neutrophil and other protections being produced slow

What are some disorders of innate immunity?

Phagocyte defects

Complement defects

What do phagocyte defects cause?

Recurrent pyogenic (pus forming bacteria) infections

Osteomyelitis (bone infections, lymphadenitis (enlarged lymph nodes), liver and lungs abscesses

How rare s complement defects?

Less than 1% of identified PID

What kind of disease is complement defects?

Systemic autoimmune disease (resemble lupus (SLE))

What is the first line of treatment for PID?

Refer to an immunolgist

Besides referring to an immunologist, what can we give for PID?

Immunoglobulin G replacement therapy (IgG-RT)

Antifungal and antibiotic prophylaxis

Vaccinations (NO LIVE ATTENUATED VACCINES (MMR, Varicella))

Bone marrow transplantation (definitive treatment)