Diseases of Immunity Pt 3 Flashcards
Histopath of B cell deficiencies
absent or reduced follicles and germinal centers in lymphoid organs, reduced Ig levels
Infectious consequences of B cell deficiencies
pyogenic bacterial infections, enteric bacterial and viral infections
Histopath of T cell deficiencies
reduced T cell zones in lymphoid organs, reduced DTH reactions to common ags. defective T cell proliferative responses
Infectious consequences of T cell deficiencies
viral and other intracellular microbial infections, some cancers
Histopath of innate immune deficiencies
dependent on which component is defective
Infectious consequences of innate immune deficiencies
pyogenic bacterial and viral infections
Chediak Higashi syndrome
autosomal recessive disorder, failure of phagolysosomal fusion resulting in increased bacterial infections; fatal without a stem cell transplant
Blood smear of Chediak Higashi
giant granules, accumulation of organisms
Presentation of Chediak Higashi pts
defects in melanocytes leading to albinism or grey streaks in hair
Chronic granulomatous disease
GROUP of genetic disorders, failure of superoxide anion production within phagocytes; accumulation of macrophages walls off the infection
Membrane Attack Complex defiiency
C5, 6, 7, 8, 9 can be affected; lysis of cell membrane cannot occur; Neisseria infections are common (meningitis)
Hereditary angioedema
autosomal dominant deficiency of C1 inhibitor
Presentation of hereditary angioedema
headache, dizziness, throat swelling, vomiting, abd pain, bladder and genital swelling, cutaneous edema, cork screw appearance of intestines
Severe Combined Immunodeficiency (SCID)
most common deficiency is in both B and T cell lineages due to a defect in T cell function
X-linked SCID
males, mutation in IL receptors, T cell reduced and B cells unable to make Ab without T cell help
Autosomal Recessive SCID
adenosine deaminase (ADA) deficiency, accumulation of toxic purine metabolites that blocks T cell formation (some B cell influence but lack of Th cells suppresses humoral)
SCID treatments
stem cell transplant, gene therapy
DiGeorge syndrome
primary T cell deficiency due to failure of pharyngeal pouches 3 and 4 (thymus, parathyroids, heart, great vessels)
DiGeorge manifestations
facial and palatal abnormalities, cardiac abn, tetany, immune deficiency (T cell, humoral deficiency)
X-linked agammaglobulinemia
Bruton tyrosine kinase gene defect on x-csome; inability of pre-B cells to mature, presents in early to late childhood
Presentation of agammaglobulenemia
infection by encapsulated bacteria (S. pneumoniae, H. influenzae B, S. pyogenes, S. aureus, P. aeruginosa), viruses, and protozoa (Giardia lamblia)
Hyper-IgM syndrome
encapsulated bacterial infections predominate due to lack of opsonizing antibodies; CD40:CD40L mutations (prevents class switching); High IgM
Hyper-IgM treatment
IVIg, stem cell transplant
Common Variable Immunodeficiency (CVID)
results in hypogammaglobulinemia; most common primary immunodeficiency; encapsulated bacterial infections
CVID presentation
recurrent sinopulmonary infections by pyogenic bacteria due to low IgA, granulomas, chronic diarrhea, autoimmune disease (anemia, thrombocytopenia)
IgA deficiency
familial or acquired, less defense of inhaled and ingested pathogens
Presentation of IgA deficiency
sinus and resp infections, urinary bladder infections, GI infection, autoimmune dz and allergies, anapylactic rxn against RBC transfusion
Transfusion related anaphylaxis
IgA present in transfusion may trigger anaphylactic reaction, red cell washing can prevent reactions
Wiskott Aldrich Syndrome triad
thrombocytopenia, eczema, recurrent infections due to T cell loss and hypogammaglobulinemia
Wiskott Aldrich mutation
WASP gene
Wiskott Aldrich treatment
stem cell transplant