Immune Deficiencies Flashcards
Immunodeficiencies are often three things (descriptive)
chronic, severe, recurrent
Immunodeficiencies do not respond to
antibiotic therapy
Immunodeficiencies are often caused by _____ organisms
opportunistic, of low virulence, which a normal functioning immune system can respond to
PIDs is often seen in what time of a child’s life?
= or > 5-6 months
Maternal IgG is _________ detected in newborn
not
PID classifications include
antibody deficiencies
T cell def.
B cell deficiencies
complement deficiencies
How long do maternal antibodies protect for on average?
usually only around 6 months
PIDs: B lymphocyte deficiency
x-linked agammaglobulinaemia (XLA) Common variable immunodeficiency (CVID) Selective IgA deficiency IgG subclass deficiency
T lymphocyte deficiency
DiGeorge syndrome
acquired immunodeficiency syndrome (HIV)
T cell activation defects
x-linked hyper IgM syndrome (XHIM)
T cell-APC interactions
IFN-gamma receptor deficiency
IL-12, IL-12 receptor deficiency
Neutrophil defects
chronic granulomatous disease (CGD)
Leukocyte adhesion deficiency (LAD)
Deficiency of complement components
classical pathway alternative pathway common pathway regulatory proteins mannan binding lectin
B cell deficiencies: ADA deficiency prevents what from developing into what?
progenitor cells from developing into pro-B cells
“combined immunodeficiency”
B cell deficiencies: RAG-1/RAG-2 and Artemis mutations are involved in
Rag = recombination genes Artemis = essential role in VDJ recombination
mutations in these prevent pro-B cells from developing into pre-B cells
B cell deficiencies: BTK deficiency
contains a PH domain that binds PIP3
involved in b cell maturation
implicated in x-linked agammaglobulinemia
prevents pre-B cells from developing into immature B cell
B cell deficiencies: BLNK
linker protein involved in B cell development and B cell signaling
mutation prevents development into immature B cells
Ig-alpha chain mutations,
B cell deficiencies: Ig-alpha, mu, and lambda
mutations prevents B cells from developing into the immature B cells
B cell deficiencies: CD19
mutation prevents development of mature B cells into plasma cells
“ADA immunodeficiency”
considered a combined immune deficiency affecting
B cells, T cells, NK cells
x-linked agammaglobulinemia
Who is affected?
What is affected?
When would they be diagnosed?
inherited mutation in BTK gene (Bruton’s Tyrosine Kinase)
X linked rearrangement of Ig heavy genes males are affected Pre-B --> circulating B cells usually absent or low in number diagnosed around 5-6 months
low/absent IgM, IgA, IgG
x-linked agammaglobulinemia: what happens “generally”
What category of immune function would be almost absent?
b lymphocytes do not mature or differentiate
humoral, Ab mediated: plasma cells never developed
x linked agammaglobulinemia is clinically
heterogenous
Which lymphoid organs are effected by x-linked agammaglobulinemia?
those in which b cells proliferate, differentiate, and stored:
spleen, tonsils, adenoids, peyer patches, peripheral lymph nodes
Autosomal recessive agammaglobulinemia
BLNK, b cell linker adaptor proteins effected
provides transduction mechanism which amplifies and regulates downstream events
