Immunodeficiency Flashcards
what are the two types of immunodeficiency disorders?
- primary: congenital-inherited as autosomal recessive genes
- secondary: comprised of outside factors ( cancer therapy, HIV, immuno-suppression therapy etc)
what are the types of primary immune deficiency disorders?
- B cell disorders
- T cell disorders
- T and B cell disorders
- complement deficiency disorders
- phagocytic dysfunctions
- leukocyte adhesion molecule deficiencies
signs that an immunodeficiency disorder is present?
- recurrent infection or severe infections
- poor response to treatment
- delayed or incomplete recovery from illness
- certain types of cancers
- certain infections
a deficiency in B cells would cause what disease
susceptibility?
- recurrent bacterial infections (otis media and pneumonia)
a deficiency in T cells would cause what disease
susceptibility?
intracellular viral, bacterial, fungal or protozoal infections
a deficiency in phagocytes would cause what disease susceptibility?
systemic infection with bacteria that are normally of low virulence
a deficiency in complements would cause what disease susceptibility?
bacterial infections and autoimmune diseases
a deficiency in leukocyte adhesion molecules would cause what disease
susceptibility?
recurrent bacterial infections, impaired pus formation, impaired wound healing
what are the common B cell deficiency diseases ?
- X-linked Infantile Agammaglobulinemia (XLA) / Bruton Disease
- Common Variable Immunodeficiency (CVID) and Transient Hypogammaglobulinemia
- selective deficiency of IgA
what are the common T cell deficiency diseases ?
- congenital thymic aplasia (DiGeorge syndrome)
- chronic mucocutaneous candidiasis
what are the common B and T cell deficiency diseases ?
- Ataxia-telangiectasia
- Severe combined Immunodeficiency
what are the common phagocytic deficiency diseases ?
- chediak-higashi syndrome
- chronic granulomatous diseases
what are the common complement deficiency diseases ?
hereditary angioneurotic edema
what are the tests used in diagnosis of immunodeficiency disorders?
- immunoelectrophoresis
- low serum antibodies against vaccine
- white blood cell count
- T cell function - mixed lymphocyte culture
what does immunoelectrophoresis measure?
absence or abnormal levels of antibody/immunoglobulin or complement proteins
what are ways to manage or treat immunodeficiency disorders?
- intravenous immunoglobulin
- antibiotics
- anti-inflammatory
- gene therapies
what are the characteristics of X-linked infantile agammaglobulinemia (Bruton’s disease)?
- no circulating B cells and all classes of Ig are absent
what are the characteristics of transient hypogammaglobulinemia?
- more likely to occur in premature babies
- temporary
what are the characteristics of common variable hypogammaglobulinemia?
- 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)
what are the characteristics of selective immunoglobulin deficiency?
absence of certain subclasses (ex IgA)
what is the most common selective immunoglobulin deficiency and what does it cause?
- 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
what is IgA also associated with ?
autoimmune diseases
how do you diagnose IgA deficiency ?
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
how do you treat IgA deficiency ?
- antibiotics and anti-inflammatories
why are intravenous immunoglobulin not recommended as a treatment for IgA deficiencies?
increased risk of life threatening allergic reactions or anaphylaxis
what does DiGeorge syndrome cause?
- abnormal thymus: poor T cell development
- abnormal parathyroid: blood calcium is low
- infants may be jittery or have seizures
how do you diagnosis DiGeorge syndrome?
- signs and symptoms present at birth
- in teen years: speech delays or problems
- genetic tests
what is the treatment for DiGeorge syndrome?
variable - calcium replacement if T cell function is low but sufficient
what is chronic mucocutaneous candidiasis?
selective defect in protection against candida albicans causing Thrush
what is ataxia telangiectasia?
- Autosomal recessive chromosomal breakage disorder of the ATM (ataxia telangiectasia mutated) protein, an essential enzyme for DNA repair
what are the symptoms of ataxia telangiectasia ?
- progressive decline in motor neurologic function
- wobbly gait
- tremors
- abnormal eye movemnts
- corkscrew-shaped blood vessels
is there a cure for ataxia telangietasia?
no cure or therapy
what causes severe combined deficiency disease (SCID) “bubble boy syndrome” ?
mutations in genes that encode proteins necessary for developing T and B lymphocytes
- adenosine deaminase
- recombinase activating genes 1 and 2 deficiency
what does severe combined deficiency disease (SCID) “bubble boy syndrome” cause ?
extreme susceptibility to severe infections
what are the signs of SCID in infants?
- 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
how do you diagnosis SCID?
- family history
- count of peripheral blood lymphocytes and examine T lymphocytes through lab tests
how do you treat SCID?
- isolation
- replacement therapy (ADA gene therapy)
- bone marrow transplant
what causes chediak-hagashi syndrome?
- phagocytosed bacteria are not destroyed by the lysosome’s enzymes.
due to mutation in the lysosomal trafficking regulator gene (LYST)
what are the symptoms of chediak-higashi syndrome?
- partial albinism
- platelete disfunction
- associated with aggressive periodontisis
what causes chronic granulomatous disease?
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
what are the symptoms of chronic granulomatous disease?
- in infancy, recurrent unusual infection with bacteria or fungus
- prolonged drainage, delayed healing, and residual scaring
- fungal pneumonia
- major risk in handling garden mulch
how is chronic granulomatous disease managed?
- antibiotic prophylaxis, an antifungal drug, interferon gamma and no gardening
what are the consequences of a deficiency in the complement cascade?
- 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
