Primary Immunodeficiencies Flashcards
What PID caused defective production of ROSs?
NADPH Oxidase defect in Chronic Granulomatous Disease (CGD)
What cell makes ROS involved in chronic granulomatous disease?
Phagocytes
What PID is associated with absent or deficient expression of B2-integrins?
LAD-1
What is B2-integrin important for?
Leukocyte adhesion
What PID is caused by absent or deficient expression of leukocyte ligands for endothelial E and P-selectins causing failure of MIGRATION of leukocytes from blood into tissue?
LAD-2
What complement disease is caused by a defect in the complement cascade activation?
Complement C3 Deficiency
Complement C2 and C4 deficiency is related to which pathway?
Classical Complement Pathway
What disease is associated with failure to clear immune complexes and defective granule function in NK cells?
SLE
What disease is caused by defective lysosomal function in neutrophils, macrophages, and dendritic cells?
Chédiak-Higashi Syndrome
What is commonly seen with a problem in macrophage phagocytosis?
Abscesses
Defective lysosomal storage can be caused by…
Dysfunctional microtubules
Dysfunctional phagocytosis
What is the inheritance pattern of CGD?
x-linked and autosomal recessive
What is the inheritance pattern of Chediak-Higashi?
Autosomal recessive
What is the inheritance pattern of LAD-1
Autosomal recessive
What is the inheritance pattern of the classical pathway?
autosomal recessive
What is the inheritance pattern of Bruton’s XLA?
x-linked
What is the inheritance pattern of Wiskott-Aldrich?
x-linked
What is the inheritance pattern of Hyper IgE (Job Syndrome)?
autosomal dominant
Abscess with granulomas
CGD
Albinism
Chediak-Higashi
Delayed separation of umbilical cord, poor wound healing, and high neutrophils in blood
LAD
Low or absent IgA
IgA deficiency
Thrombocytopenia, infection, eczema (TIE)
Wiskott-Aldrich
elevated IgM and low IgA and IgE
Hyper IgM Syndrome
Absent B-cells and low Ab
Bruton’s XLA
SCIDs are associated with a defect in…
B and T cell development
The most common SCID is…
Common-gamma chain –> lack of IL-7, IL-12, etc
The second most common SCID is associated with…
ADA deficiency
Adenosine deaminase
What SCID is related to cytoskeletal deficiency leading to poor uptake by dendritic cells and other APCs?
Wiskott-Aldrich
What is the deficiency associated with x-linked SCID?
cytokine receptor commom gamma chain mutation that leads to defective T-cell maturation due to lack of IL-7
Autosomal recessive SCID due to ADA or PNP deficiency leads to…
progressive decrease in B and T cells
More T0cells
In ADA- reduced Ig
In PNP- normal B-cells and serum Ig
ADA and PNP deficiency causes…
accumulation of toxic metabolites in lymphocytes
X-linked agammaglobulinemia
decrease of all serum Ig isotypes due to reduced B-cell numbers
DiGeorge Syndrome
decreased Tcells
normal Bcells
DiGeorge Syndrome is caused by
improper formation of the 3rd and 4th pharyngeal pouches which are important for thymus production
Hypocalcemia is seen in…
DiGeorge
Mutation in CD40 ligand leads to…
Hyper IgM Syndrome
CVID is associated with
Mutations in the receptor for B cell growth factors and stimulators
TAP1, TAP2, tapasin
MHC I expression defect
Bare Lymphocyte Syndrome
MHC II expression defect
Deficiency/defect in CD3 and ZAP70
Defective T-cell signaling
In defective CD3 and ZAP70 you see… what change in T-cells?
Normal T-cell number
Defective signaling
DiGeorge Syndrome is a mutation in…
Tbox-1 and FoxN1 genes
thymic aplasia is associated with…
DiGeorge Syndrome
What mutations are associated with VDJ recombination?
RAG 1, RAG 2, and Artemis
CD19 is seen on what cell?
B-cells
Mutations in CD40ligand, CD40 receptor, and AID is associated with…
Hyper IgM Syndrome
