Immunodeficiency

Question 1

what are the two types of immunodeficiency disorders?

Answer 1

• primary: congenital-inherited as autosomal recessive genes
• secondary: comprised of outside factors ( cancer therapy, HIV, immuno-suppression therapy etc)

Question 2

what are the types of primary immune deficiency disorders?

Answer 2

• B cell disorders
• T cell disorders
• T and B cell disorders
• complement deficiency disorders
• phagocytic dysfunctions
• leukocyte adhesion molecule deficiencies

Question 3

signs that an immunodeficiency disorder is present?

Answer 3

• recurrent infection or severe infections
• poor response to treatment
• delayed or incomplete recovery from illness
• certain types of cancers
• certain infections

Question 4

a deficiency in B cells would cause what disease
susceptibility?

Answer 4

• recurrent bacterial infections (otis media and pneumonia)

Question 5

a deficiency in T cells would cause what disease
susceptibility?

Answer 5

intracellular viral, bacterial, fungal or protozoal infections

Question 6

a deficiency in phagocytes would cause what disease susceptibility?

Answer 6

systemic infection with bacteria that are normally of low virulence

Question 7

a deficiency in complements would cause what disease susceptibility?

Answer 7

bacterial infections and autoimmune diseases

Question 8

a deficiency in leukocyte adhesion molecules would cause what disease
susceptibility?

Answer 8

recurrent bacterial infections, impaired pus formation, impaired wound healing

Question 9

what are the common B cell deficiency diseases ?

Answer 9

• X-linked Infantile Agammaglobulinemia (XLA) / Bruton Disease
• Common Variable Immunodeficiency (CVID) and Transient Hypogammaglobulinemia
• selective deficiency of IgA

Question 10

what are the common T cell deficiency diseases ?

Answer 10

• congenital thymic aplasia (DiGeorge syndrome)
• chronic mucocutaneous candidiasis

Question 11

what are the common B and T cell deficiency diseases ?

Answer 11

• Ataxia-telangiectasia
• Severe combined Immunodeficiency

Question 12

what are the common phagocytic deficiency diseases ?

Answer 12

• chediak-higashi syndrome
• chronic granulomatous diseases

Question 13

what are the common complement deficiency diseases ?

Answer 13

hereditary angioneurotic edema

Question 14

what are the tests used in diagnosis of immunodeficiency disorders?

Answer 14

• immunoelectrophoresis
• low serum antibodies against vaccine
• white blood cell count
• T cell function - mixed lymphocyte culture

Question 15

what does immunoelectrophoresis measure?

Answer 15

absence or abnormal levels of antibody/immunoglobulin or complement proteins

Question 16

what are ways to manage or treat immunodeficiency disorders?

Answer 16

• intravenous immunoglobulin
• antibiotics
• anti-inflammatory
• gene therapies

Question 17

what are the characteristics of X-linked infantile agammaglobulinemia (Bruton’s disease)?

Answer 17

• no circulating B cells and all classes of Ig are absent

Question 18

what are the characteristics of transient hypogammaglobulinemia?

Answer 18

• more likely to occur in premature babies
• temporary

Question 19

what are the characteristics of common variable hypogammaglobulinemia?

Answer 19

• B cells fail to mature into plasma cells
• variable (some have a decrease in IgA and IgG but others may have decrease in all three IgA, IgG and IgM)

Question 20

what are the characteristics of selective immunoglobulin deficiency?

Answer 20

absence of certain subclasses (ex IgA)

Question 21

what is the most common selective immunoglobulin deficiency and what does it cause?

Answer 21

• IgA deficiency
• decreased immune function in the mucosal surfaces of the mouth, GI tract and lungs causing an increase risk for respiratory and GI infections

Question 22

what is IgA also associated with ?

Answer 22

autoimmune diseases

Question 23

how do you diagnose IgA deficiency ?

Answer 23

symptoms
- family history of IgA deficiency or Bruton’s
- mouth infections
- frequent respiratory infections
- unexplained asthma or bronchiectasis
- chronic diarrhea
tests
- serum immunoelectrophoresis
- quantitative immunoglobulins

Question 24

how do you treat IgA deficiency ?

Answer 24

• antibiotics and anti-inflammatories

Question 25

why are intravenous immunoglobulin not recommended as a treatment for IgA deficiencies?

Answer 25

increased risk of life threatening allergic reactions or anaphylaxis

Question 26

what does DiGeorge syndrome cause?

Answer 26

- abnormal thymus: poor T cell development - abnormal parathyroid: blood calcium is low - infants may be jittery or have seizures

Question 27

how do you diagnosis DiGeorge syndrome?

Answer 27

- signs and symptoms present at birth - in teen years: speech delays or problems - genetic tests

Question 28

what is the treatment for DiGeorge syndrome?

Answer 28

variable - calcium replacement if T cell function is low but sufficient

Question 29

what is chronic mucocutaneous candidiasis?

Answer 29

selective defect in protection against candida albicans causing Thrush

Question 30

what is ataxia telangiectasia?

Answer 30

- Autosomal recessive chromosomal breakage disorder of the ATM (ataxia telangiectasia mutated) protein, an essential enzyme for DNA repair

Question 31

what are the symptoms of ataxia telangiectasia ?

Answer 31

- progressive decline in motor neurologic function - wobbly gait - tremors - abnormal eye movemnts - corkscrew-shaped blood vessels

Question 32

is there a cure for ataxia telangietasia?

Answer 32

no cure or therapy

Question 33

what causes severe combined deficiency disease (SCID) "bubble boy syndrome" ?

Answer 33

mutations in genes that encode proteins necessary for developing T and B lymphocytes - adenosine deaminase - recombinase activating genes 1 and 2 deficiency

Question 34

what does severe combined deficiency disease (SCID) "bubble boy syndrome" cause ?

Answer 34

extreme susceptibility to severe infections

Question 35

what are the signs of SCID in infants?

Answer 35

- severe infections from organisms that are usually not harmful - susceptible to vaccines - fungal (yeast) infections may be hard to treat - persistant diarrhea - severe weight loss and malnutrition - rash caused by mothers T cells

Question 36

how do you diagnosis SCID?

Answer 36

- family history - count of peripheral blood lymphocytes and examine T lymphocytes through lab tests

Question 37

how do you treat SCID?

Answer 37

- isolation - replacement therapy (ADA gene therapy) - bone marrow transplant

Question 38

what causes chediak-hagashi syndrome?

Answer 38

- phagocytosed bacteria are not destroyed by the lysosome's enzymes. due to mutation in the lysosomal trafficking regulator gene (LYST)

Question 39

what are the symptoms of chediak-higashi syndrome?

Answer 39

- partial albinism - platelete disfunction - associated with aggressive periodontisis

Question 40

what causes chronic granulomatous disease?

Answer 40

The body’s phagocytic cells are unable to make hydrogen peroxide and other oxidants making patients susceptible to infections with bacteria and fungi that usually are of low virulence

Question 41

what are the symptoms of chronic granulomatous disease?

Answer 41

- in infancy, recurrent unusual infection with bacteria or fungus - prolonged drainage, delayed healing, and residual scaring - fungal pneumonia - major risk in handling garden mulch

Question 42

how is chronic granulomatous disease managed?

Answer 42

- antibiotic prophylaxis, an antifungal drug, interferon gamma and no gardening

Question 43

what are the consequences of a deficiency in the complement cascade?

Answer 43

- increased susceptibility to bacterial infections and autoimmune diseases - failure to clear immune complexes - deficiencies of C5,6,7,8,or 9, late acting complement proteins involved in forming holes - susceptible to the bacteria neisseria - deficiencies in regulators of complement - hereditary angioneurotic edema