Primary Immunodeficiencies Flashcards
What defect would you want to screen for with recurrent skin abscesses/ or fungal infections
Phagocyte defect
MyD88 deficiency
Impaired signaling for all TLRs except TLR3
Recurrent pyogenic bacteria infection
Patients lack fevers and lack elevated levels of ESR/CRP during infection
Low TNF-a, IL-1, IL-6 during infection
DiGeorge syndrome
T-, B+, NK+
T-cell deficiency
Hypoplastic thymus, cardiac abnormalities, hypocalcemia
HIGM
High IgM, low IgG/IgA, T+, B+, NK+
Normal levels of peripheral B cells, low CD27+ memory B cells
Transient Hypogammaglobulinemia of Infancy
Low IgG/IgA, IgM is normal or low
Intrinsic IgG production is delayed for up to 36 months
Increased susceptibility to sinopulmonary infection
C2 deficiency
Most common complement deficiency in caucasion
Found in young kids with recurrent streptococcus pneumoniae
Paroxysmal nocturnal hemoglobinuria
GPI deficiency
DAF and CD59 not linked to membrane
Increased RBC susceptibility to hemolysis
PNP deficiency
Purine nucleoside phosphorylase deficiency
T-, B-, NK+
Accumulation of intracellular dGTP
Early neurological abnormalities
Common to have associated AI disorders including hemolytic anemia, thyroid disease, arthritis, lupus
HSCT is treatment
Agammaglobulinemia
B cell development is arrested at the pre-B cell stage
Circulating B cells are absent or low in number
T+, B-, NK+
CD3 deficiency
T-, B+, NK+, Low IgG, IgA Form of SCID Lymphopenia, decreased T cells Specific Ab response is decreased Failure to thrive, opportunistic inf, diarrhea
NK deficiency- NKD
Classical NKD= Absence of NK cells (GATA2 deficiency)
Functional NKD= Presence of NK cells with defective activity (perforin deficiency)
Recurrent viral infections
Chronic granulomatous disease CGD
Phagocytic disorder, tendency to form granulomas
Deficiency of NADPH oxidase in phagocytes
Cannot generate superoxide anion
Defective elimination of extracellular pathogens
Recurrent inf with catalase positive organisms (staph)
Th17 deficiency
Susceptible to chronic mucocutaneous candidiasis
Mutations in IL-17/IL-17R, TFs- STAT1, STAT3 or AIRE
CD40L deficiency
Responsible for 2/3 of HIGM cases Unable to class switch or activate B cells, no B cell differentiation
SCID
Low IgA, IgG, IgM Severe lymphopenia Severe opportunistic infections At risk of abortion due to inability to reject maternal T cells Avoid all live viral vaccines
ADA deficiency
Second most common cause of SCID
Leads to accumulation of toxins for lymphocytes metabolic by-products deoxyadenosine
ALPS
Defects in Fas, FasL, Caspase-8 or 10 results in abrogated formation of death-inducing signaling complex DISC and resistance of effector T cells to apoptosis
Bare lymphocyte syndrome II
CD4-, CD8+, B+, NK+
No MHC II expression, deficient CD4 cells
Respiratory/GI/UT infections, early death
Common variable immune deficiency CVID
Defect in Ab production, B-/+, T+, NK+
Number of circulating B cells is low or normal
B cells cannot differentiate into plasma cells
Recurrent pyogenic sinopulmonary infections
IL-7R alpha chain deficiency
T-, B+, NK+, IgA/IgG low
Ig levels are low/absent due to absence of T cell costimulatory signaling
Candidiasis, diarrhea, pneumocystis jiroveci pneumonia, severe viral infections
X-linked BTK deficiency
Defect in rearrangement of Ig heavy chains
IgA, IgG, IgM are absent or very low
B-, T+, NK+
Isolated IgG deficiency
Decreased concentration of one or more IgG subclass
Usually asymptomatic, can be associated with recurrent viral/bacterial infections- usually respiratory
B+, T+, NK+
What are you looking for after a failed DTH skin test
T cell defects
Factor H deficiency
Associated with atypical hemolytic uremic syndrome or glomerulonephritis
