Clinical Science I & II Flashcards
Which IL receptors are use common gamma chain?
2,4,7,9,15,21
What is lymphotoxin and what produces it?
similar to TNF, but doesn’t exist as a membrane bound form; only produced by lymphocytes
What is the main function of IL-18?
activate macrophages
Which cytokine is essential for differentiation and proliferation of NK cells?
IL-15
What is the function of APRIL and BAFF?
supports B cell proliferation and maturation
What is the function of TSLP and what cell type produces it?
activates dendritic and other APCs; produced by stromal cells
Why does IL-7R alpha defect lead to SCID?
IL-7 induces proliferation of B, T and NK cells
How does a T cell assure that only specific cells expand?
antigen binds to Ab -> prod of IL-1 and IL-6 -> induces IL-2 and IL-2R
What is the phenotype of ADA and reticular dysgenesis SCID?
T-B-NK-
What is the phenotype of RAG-1/RAG-2, Artemis, Cernunnos and ligase IV SCID?
T-B-NK+
What is the phenotype of JAK3, common gamma chain SCID?
T-B+NK-
What is the phenotype of IL-7R alpha SCID?
T-B+NK+
Which PID is associated with progressivvve T cell loss and decreased levels of uric acid?
PNP deficiency
What is the defect in WHIM syndrome?
autosomal dominant gain of function in CXCR4
Which PID has petechiae, eczema, and small platelets?
Wiscott-Aldrich syndrome
Which PID is associated with increased alpha-fetoprotein?
ataxia telangiectasia
What causes Hyper IgM syndrome?
defect in CD40 or CD40L - B cells can’t isotype switch
Which PID is due to inability to produce NF-KappaB?
NEMO
Which disease is characterized by increased alpha beta double negative T cells?
ALPS
Which disease is due to FAS mutation with increased vitamin B12 and IL-10?
ALPS
Mucocutaneous candidiasis seen in APECED is due to autoantibodies to what?
IL-17 and IL-22
What is the function of BTK?
phosphorylates PLC-gamma2
mutations in TACI and BAFF cause what disease?
CVID (but not all with mutation have CVID)
Mutations in AID and UNG lead to what?
Hyper IgM syndrome
What types of infections are more common in C5-C9 deficiency?
Nisseria
What disease is due to NK and CTL inability to release lytic granules for cytotoxicity?
hematophagocytic lymphohistiocytosis (HLH)
Chediak Higashi syndrome is due to a defect in what gene?
LYST - inability to generate normal lytic granules
What is the cellular problem in Hermansky Pudlak syndrome?
inappropriate formation of lytic granules and movement along microtubulesf
Mutations in LYST cause what to happen in granulocytes?
primary and secondary granules fuse, get giant granules- Chediak Higashi
What are the pathognomonic infections of CGD?
Chromobacterium violaceum, francisella philomiragia, granulibacter bethesdensis
Why are granulomas formed in CGD?
unable to degrade inflammatory mediators
What medications are contraindicated in CGD?
TNF blockers
What is the protein defect in LAD2?
CD15s
What is the mutation in JOB syndrome?
gp130
What is the mutation in hyper IgE syndrome?
STAT3
Which PID is associated with HPV and molluscum contagiosum?
DOCK8
What distinguishes STAT3 from DOCK8 mutations Hyper IgE syndromes clinically?
DOCK8 have viral infections and allergies, not STAT3
Disseminated mycobacterial infections are characteristic of what?
interferon gamma receptor 1 defect
