Primary Immune Deficiencies Flashcards
impaired cellular immunity is
lack of T cells and NK cells
Impaired humoral immunity means lack of
antibodies
impaired innate immunity means lack of
macrophages and neutrophiles
what are the three group defects
Defects in lymphocyte (groups: 1-4)
Defects in phagocytes/innate immunity (groups: 5-6)
Other defects (groups: 7-10)
SCAD ( Severe Combined Immunodeficiencies) is a defect in
T-cell development or function together w/h defective B and or NK cell immunity
what is the treatment for Severe Combined Immunodeficienes
Bone marrow/ HSC transplant
what is the most common type of SCID
X-linked
X-linked SCID causes
T cells and NK cells to be absent
B cells are present but not functional
mutation in what can also cause X-linked SCID
JAK3
X-linked SCID is due to
mutation in the gama chain
ADA is what type of trait
Autosomal Recessive
ADA catalyzes
adenosine and deoxyadenosine
What happends to the cells in ADA SCID
decline in B,T and NK cells
SCID-RAG deficiency is
autosomal recessive on chromosome 11
SCID-RAG deficiency is failed
V(D)J recombination of Ig/BCR and TCR loci
what happends to the cells in SCID-RAG
B and T cells develop but arrested at pre-B and pre-T cell stage , no mature cells present
NK cell and function are normal
what are the two syndromes of SCID-RAG
Omenn syndrome
Athabascan phenotype
what are the features of omenn syndrome
red skin, hair loss, enlarged liver/spleen
SCID-Class 2 MHC deficiency is
autosomal recessive
the 4 subtypes of SCID-Class 2 MHC all
involve transcription factors
SCID-Class 2 MHC cause
CD4+T cells to be dramatically reduced
Class 2 MHC are absent and non-inducible
DiGeorge syndrome is a
autosomal dominant disorder on chromosome 22
DiGeorge is a defect in
TBX1; transcription factor
DiGeorge syndrome causes
T cells to be absent or reduced
Complete DiGeorge syndrome results in
severe infection, chronic diarrhea, fatal
non-complete DGS the
T cell function tends to improve with age
what is a possible treatment for DGS
BM or fetal thymus transplant
is SCID or antibody deficiency more severe
SCID
(X-linked Antibody) Burton’s Agammaglobulinemia is a
x linked disease
Burton’s Agammaglobulinemia is a defect in
BCR kinase Btk
what does Burton’s Agammaglobulinemia cause cellulary
- no heavy chain rearrangement
- reduced or absent B cells/ germinal center
- low serum immunoglobulin
- T-cell function is normal
what is the common infection in Burton’s Agammaglobulinemia
Neisseria
( X-linked Antibody) Hyper IgM syndrome is a defect
in CD40L
what does Hyper IgM syndrome co cellularly
Defective Ig switching to IgG and IgA, causes increase of IgM
Common Variable Immunodeficiency causes
reduced levels of Serum Ig and impaired response to infection/vaccines
Selective Ig isotype deficiency is more common that
IgG subclass deficiencies
what type of deficiency is leukocyte adhesion deficiency
phagocyte deficiency
Leukocyte adhesion deficiency is a
loss of CD18
what is the result Leukocyte adhesion deficiency
adhesion is impaired
neutrophils cannot migrate to site of infection/injury
Chronic Granulomatous disease causes
Phagocyte killing microbes is impaired
T-cell response predominateed activating granulomas
defects in C3 cause
Defects in C5-C9 cause
Lack of C1-C4 cause
decrease opsonization
MAC decreases lysis of bacteria like Neisseria
impairs C3b and C4b reducing opsonization and clearance of antibody complex
