Term
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Definition
Primary immunodeficiency
- congenital, genetic and intrinsic defects of the immune system |
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Term
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Definition
Secondary immunodeficiency - or "acquired"
- suppression, damage or decline of normal immune system |
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Term
| What are some common causes of Secondary Immunodeficiency? |
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Definition
-Prematurity, infancy, pregnancy, elderly
-Malnutrition
-Infection
-Malignancy (lymphoma/myeloma)
-Radiation and cancer chemotherapy
- immunosuppression in transplantation
- autoimmune diseases
- Protein loss (nephrotic syndrome etc.)
- Metabolic diseases (diabetes, uremia, liver failure) |
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Term
| Why is it important to know the clinical features that would raise suspicion of an immune deficiency? |
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Definition
| because timely referral for investigation/diagnosis may be life-saving |
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Term
| What characteristics of infections suggest abnormal immunodeficiency? |
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Definition
> 12 infections yearly
severe infections
chronic infections
persistent damages
recurrent infections with same microbes
infections with opportunistic microbes |
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Term
| If you are reading this card, go check out the 10 warning signs of primary immunodeficiency! |
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Definition
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Term
| What are the most common types of primary immune deficiencies? |
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Definition
| Antibody disorders (so B cell defects) |
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Term
| When are the majority of patients diagnosed with PID? |
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Definition
| half of patients are diagnosed after the 3rd deade of life |
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Term
| What are the different types of Severe Combined Immune Deficiency? |
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Definition
(T-, B-, NK-) --> no T, B or NK lymphotcytes
(B+, T-, NK) --> have B cells, no T or NK lymphocytes
(NK+, T-, B-) --> have NK cells, no T or B cells |
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Term
| How many genetic defects cause SCID? |
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Definition
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Term
| The (T, B, NK) designation/classification is based on what? |
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Definition
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Term
| When will you suspect SCID? |
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Definition
| If there is clinical presentation from birth up to 15 months of one or more warning signs of PID |
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Term
| What are some of the most important warning signs of SCID? |
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Definition
- Severe/persistent respiratory or GI tract infection (with any virus, fungi or bacteria)
- severe eczema or chronic diarrhea in association with infections
- adverse rxn to live virus vaccine
- previous infant death or consanguinity |
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Term
| Explain the workup for SCID |
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Definition
- Absolute lymphocyte count
- IgG and IgM
- HIV screen
- T, B and NK enumeration |
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Term
| What must infant absolute lymphocyte count be? |
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Definition
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Term
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Definition
- Isolation
- prophylaxis against fungi, herpes and pneumocystis,
- administer IVIG
- prepare for hematopoietic stem cell transplantation
- avoid transfusion (due to graft vs host disease)
- use irradiated and Cytomegalovirus-negative blood |
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Term
| If someone's immune system is normal, what would you expect of the immunoglobulins if that person has recurrent infection? |
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Definition
| you would expect immunoglobin levels to increase! |
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Term
| Why do we test for albumin level? |
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Definition
If the level is low, it might suggest general protein loss including IgG most often into the gut
so this would make you less likely to think it's an immune deficiency |
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Term
| Describe (very basically) the levels of immunoglobulins in serum of normal children. |
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Definition
- IgG crosses the placenta and provides protection = so newborns have tons of it
- after maternal antibodies are catabolized the baby has to make their own
- There is a drop in IgG and an increase in other kinds of immunoglobulins |
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Term
| What is transient hypogammaglobulinemia of infancy? |
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Definition
- IgG given by the mom lasts 4-6 months then babies produce their own... so IgG increases during first 4 eyes.
- in THI, initiation of IgG production is delayed |
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Term
| What are some symptoms of THI? |
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Definition
- infant may be healthy
- may have recurrent sinus, ear or lung infections
- be at increase risk of invasive bacterial infection |
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Term
| In THI, Ig_ is usually also low and delayed |
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Definition
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Term
| 90-95% of THI cases resolve by ages 3-4. Why is it important to follow up? |
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Definition
- the remainder may remain IgA deficient
- IgG subclass deficient
- it may evolve into CVID |
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Term
What is X-linked agammaglobulinemia?
(aka Bruton's) |
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Definition
| failure of B cell development due to mutation of the gene for Burton's tyrosine kinase (Btk) |
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Term
| What is important about Btk? |
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Definition
| it is an essential signaling molecule from the B cell antigen receptor |
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Term
| What is the significance of agammaglobulinemia being x-linked? |
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Definition
| only boys get it, mothers are carriers? |
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Term
| Children with x-linked agammaglobulinemia have ___ T cell function |
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Definition
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Term
| What is the prognosis of x-linked agammaglobulinemia? |
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Definition
| Very good if treated with adequate IgG therapy and antibiotic to protect from permanent lung damage (ex: bronchiectasis) |
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Term
| What are the indicators of selective IgA deficiency? |
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Definition
- IgA below detection (<0.07 g/L) with normal IgM and IgG
- recurrent sinus and pulmonary infections or GI problems (n 50% of cases) |
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Term
| Patients with Selective IgA deficiency are at an increased risk of ... |
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Definition
- Asthma
- Food allergies
- Increased (10-20 x) risk of celiac disease
- hemolytic anemia
- diabetes
- autoimmune hepatisis
arthritis |
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Term
| Why are patients with selective IgA deficiencies at risk of anaphylactic/allergic run to blood products? |
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Definition
| Because IgG or IgE may have an antibody to IgA (since IgA is a foreign protein!) |
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Term
| Describe the immunoglobulins in a patient with CVID |
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Definition
- Decreased IgG
- Unusually low IgA
- Variable or normal IgM
- Failure of IgG antibody responses |
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Term
| What are some characteristics of CVID? |
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Definition
- It involves a defect or decline with age of B cell activation, Ig switching and memory B cells
- recurrent sinus infections, pulmonary infections of GI infections |
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Term
| Why are some CVID patients at increased risk of viral and fungal infections? |
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Definition
| Because they have T cell dysfunction or a decline in number |
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Term
| Patients with CVID often produce __-antibodies |
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Definition
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Term
| What is the prognosis for patients with common variable immune deficiency? |
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Definition
| overall, good with IVIG or subcutaneous Ig |
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Term
| In IgG therapy how often is IgG given? |
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Definition
| approximately once a month because its half-life is approximately 28 days |
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Term
| NEED to insert complement deficiency cards |
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Definition
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Term
| Clinical Presentation of Neutrophil/Phagocyte deficiency |
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Definition
- recurrent or severe sino-pulmonary infection of bacteremia
- fungal respiratory infections
- abscesses
- poor wound healing
- delayed umbilical cord separation
- mycobacteria infections (ex: TB) |
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Term
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Definition
| leukocyte adhesion deficiency - a defect in an adhesion protein |
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Term
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Definition
| chronic granulomatosis disease --> lack an enzyme, and it get eventually fatal fungal pneumonia |
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Term
| How do you treat CGD and other severe neutrophil deficiencies? |
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Definition
- life-long antibiotic and anti-fungal prophylactic meds
- bone marrow or cord blood stem cell transplant
- granulocyte colony stimulating factor |
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