Term
Name examples of immunodeficiencies associated with the TLR pathway. |
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Definition
NEMO - ectodermal dysplasia, mycobacteria, pyogenic bacteria
MyD88 mutation - mycobacteria, pyogenic bacteria
IRAK4 mutation - pyogenic bacteria (strep pneumoniae)
Unc93B or TLR 3 mutation - HSV encephalopathy
TLR 4 - N. Meningitidis sepsis |
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Term
What is the defect in LAD type 1 and LAD type 2? |
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Definition
Defect in CD18 (part of integrin LFA-1 and MAC-1/CR3 and CR4 which also involves complement)
Defect in FUC1 gene required for synthesis of sialyl Lewis X on P and E selectin ligands |
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Term
What is the surface marker used to diagnose DiGeorge syndrome? |
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Definition
CD45RA (present on naive T cell but not on effector or memory T cells) |
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Term
What mutation is associated with X-linked lymphoproliferative syndrome? |
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Definition
SAP (slam associated protein) mutation |
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Term
Which interleukins are associated with common gamma chain family?
What immunodeficiency is associated with mutation in common gamma chain IL2R? |
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Definition
IL-2, 4, 7, 9, 15 and 21
X-linked SCID (most common form of SCID) |
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Term
Name two mutations for CGD. |
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Definition
gp91-phox (X-linked, 70%)
p47, p22, p67-phox (AR) |
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Term
What is associated with bare lymphocyte syndrome? |
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Definition
Defect in MHC class I expression - mutation in TAP (AR, CD8 lymphopenia)
Defect in MHC class II expression - mutation in CIITA (class II transcription activator), MHC2TA, RFX5, FRXAP, FRXANK (AR, CD4 lymphopenia) |
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Term
What mutation is associated with autoimmune polyglandular syndrome (APS)? |
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Definition
Mutation in AIRE (autoimmune regulatory gene) |
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Term
What mutation is associated with autoimmune lymphoproliferative syndrome (ALPS)? |
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Definition
Mutation in Fas (CD95) or FasL |
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Term
What deficiency results in AR SCID?
What about SCID with no CD8 cells or T lymphocyte function but normal B lymphocytes and NK cells?
Severe form of SCID? |
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Definition
Jak3 and CD45 deficiency
ZAP-70 mutation
CD3 |
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Term
What gene mutation leads to X-linked agammaglobulinemia?
What about autosomal agammaglobulinemia (in girls)? |
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Definition
btk (bruton's tyrosine kinase) gene mutation - cessation at pre-B cell stage
mu heavy chain gene mutation on Ig molecule, BLNK, lambda 5, Ig-alpha |
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Term
What mutation is associated with X-linked hyper IgM syndrome?
What deficiency is associated with AR hyper IgM syndrome involving class switching with lymphadenopathy?
What other deficiency is associated wtih AR hyper IgM syndrome which has normal class switching?
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Definition
CD40 ligand (on helper T cells) mutation (does not have lymphadenopathy), NEMO
AID and UNG mutations CD40 (on B cells) deficiency |
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Term
Name the chemokine receptor associated with WHIM (warts, hypogammaglobulinemia, Infections and myelokathexis) syndrome. |
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Definition
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Term
Which infections are most commonly found in IFN-gamma deficiency? |
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Definition
Mycobacteria and Salmonella |
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Term
What is the gene defect in neutrophil-specific granule deficiency? |
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Definition
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Term
What is the mutation in Chediak-Higashi Syndrome? |
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Definition
LYST (lysosomal trafficking regulator) gene |
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Term
What is the mutation in hyperIgE syndrome and which effector T cell subset is affected? |
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Definition
STAT3 (AD)
defective Th17 response |
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Term
What mutation leads to selective IgA deficiency? |
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Definition
TACI (transmembrane activator and calcium-modulator and cyclophilin-ligand interactor) |
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Term
What mutation leads to CVID? |
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Definition
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Term
What is the defect in hereditary angioedema?
What does this protein inhibit? |
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Definition
C1 inhibitor
Inhibits C1r and C1s as well as MASP1 and MASP2 |
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Term
What is the defect in immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome (IPEX)? |
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Definition
Mutation in FoxP3 causing deficiency in regulatory T cells |
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Term
Which are associated with these different types of SCID... T-B+NK- T-B+NK+ T-B-NK- T-B-NK+ |
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Definition
T-B+NK- common gamma chain, JAK3 T-B+NK+ IL-7Ralpha,CD3, CD45 T-B-NK- ADA, PNP, Reticular dysgenesis T-B-NK+ RAG, ARTEMIS, Ligase IV, Omenn's |
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Term
What is associated with normal B cells, normal Ig levels but no vaccine response? |
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Definition
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Term
What is associated with normal B cells, low Ig levels but normal vaccine response? |
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Definition
Transient hypogammaglobulinemia of infancy or secondary cause |
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Term
What is associated with normal B cells, low Ig levels and no vaccine response? |
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Definition
IgA deficiency, CVID and hyper-IgM |
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Term
Mutations in IL-12Rbeta1 lead to susceptibility to which infections? |
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Definition
Salmonella and atypical mycobacteria |
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Term
What chemokines are associated with HIV? What complement receptors? |
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Definition
CCR5 (no progression or slow progression of disease) and CCL3L1 (if low then worse disease) CR1,2 and 3 |
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Term
What is the defect in cyclic neutropenia? Kostmann syndrome (severe congenital neutropenia)? |
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Definition
ELA2 gene coding for elastase ELA2 and HAX1 genes |
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Term
What is the defect in shwachman-diamond syndrome? |
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Definition
SBDS gene encoding for ribosome production and RNA processing |
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Term
What is the defect in specific granule deficiency? |
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Definition
CEBP epsilon gene encoding myeloid transcription factor |
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Term
What is the defect in wiskott-Aldrich syndrome? |
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Definition
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Term
What autosomal dominant disease which causes adhesion problems and impairs chemotaxis? |
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Definition
Ras-related C3 botulinum toxin subjectn2 (RAC2) deficiency |
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