Systems 4 Immunodeficiencies

Front 1

Primary Immunodeficiency
occurence?
cause?
result is?

Back 1

-relatively rare
-inherited and congenital
-result in a predisposition for infections

Front 2

X-linked agammaglobulinemia:
defect in?
type of infection? with what type of organism?
levels of immunoglobulins?
B cell/proB/preB levels?
lymphoid tissue?
defect in?
diagnosed by?
therapy?

Back 2

Pre-B cell to immature B-cell or pro-B cell to pre B-cell

-recurrent respiratory with encapsulated bacteria

-low levels of all immunoglobulin classes

-B-cells absent from blood, but preB or proB cells are normal

-lacks germinal centers and plasma cells

-defect in signal transducing molecule BTK or tyrosine kinase gene on long arm of chromosome X(xq22)

Front 3

Order to B cell maturation

Back 3

stem cell
early pro B
late pro B
Large pre B-intracellular/surface U chain receptor
small pre-B-intracellular U chain R
immature B cell-IgM expressed on cell surface
Mature B Cell-IgD and IgM on surface

Front 4

Process of elimination for:
bacteria toxins, extracellular space, plasma

Back 4

toxins(H. influenza):
cell with receptors for toxin
neutralization
ingestion by macrophage

extracellular space(s. pneumoniae)
-opsonization-ab surround microbe
-ingestion by macrophage

bacteria in plasma(s. aureus)
-ab surround microbe
-complement activation
lysis and ingestion

Front 5

encapsulated removal

Back 5

-resist uptake by neutrophils and avoid engulfment

-binding of IgG2 Abs to the bacterial surface leads to activation of complement and binding of C3b

Front 6

Flow Cytometry

Back 6

-fluorescent aBs against cells you want to study

-cells forced through a small stream single file

-hit by laser lights of different wavelengths for exication

-regular white light: see how big cells is
-look at shadow to determine size(aka forward scatter)

-red PMT/90 degree laser assesses granularity

-filters only take up certain fluorescent signals...ref fluorescence will be taken up by redPMT.

Front 7

what does this show?

Back 7

y-axis = granular
x-axis: size

bottom left = small dead cells

CD19 = antigen on B-cells
CD3 = antigen on T cells

Normally patient has mature B and T cells...in XLA patient has T cells but not B cells

Front 8

Isolated IgA deficiency
defect in?
sx?
immunoglobulin levels?
other complications?
treatment?

Back 8

-failure in B cell differentiation
-signaling molecules which allow IgA to be produced is absent in these patients -->can't develop IgA positive b-cells
-asx but some have recurrent upper respiratory infections, autoimmune disease, allergies and Gi disease
-other Ig levels are normal
-20-40% have anti-IgA antibodies that lead to nonhemolytic transfusion reactions
-immunoglobulin replacmeent is not a treatment option-patients at risk for developing aBs against IgA as they have none

-treat infections aggressively

Front 9

Hyper-IgM syndrome happens because?

Back 9

-there is no isotype switching occurs, so no IgE, IgA, IgG

Front 10

IgG subclass deficiency:
-characterized by?
-exhibit what kind of infections?
-assoicated with?
-treatment?

Back 10

-usually one or more subclasses are deficient

-exhibit recurrent bacterial and respiratory infections

-often assoicated with other immunodeficiencies such as ataxia-telangiectasia

-iv immunoglobulin

Front 11

X-linked Hyper-IgM Deficiency
caused by?
characterized by?
forms of disease?
complications?

Back 11

-IgMs which cannot class switch due to mutated CD40L on t-cells
-thus cannot produce aB except for IgM

-high levels of Igm and low levels of other isotypes

-primary and acquired

-recurrent infxns with pyogenic bacteria in infancy

Front 12

digeorges syndrome
what is blocked? what are the consequences of this blockage?

Back 12

maturation of t-cell blocked
-no mature CD8s and CD4s
-cannot activate B cells

Front 13

Architecture of the Thymus

Back 13

-Cells mature as they move the cortex(outside) to the medulla(inside)

-notch signalling is crucial for maturation..otherwise get a defect in T-cell maturation

Front 14

Digeorge syndrome
-physiological cause?
-sxs begin to show?
-causes what abnormalities
-effect on immune system
-antibody levels and fxns?
-complications?
-treatment
-would a bone marrow transplant help?

Back 14

-congenital apasia or hypoplasia of thymus and parathyroid glands due to inhbited growth of 3rd and 4th pharyngeal pouches

-right after birth

-low set malformed ears, fish mouth

-absence of cell mediated immunity and low levels of circulating T-cells

-antibody levels and fxn are variable

-susceptible to fungal and viral infections(cell mediate immunity deficient)

-treatment: involves monitoring heart disease, hypocalcemia, and prophy for pneumocystis(yeast infxn handled by adaptive immunity)

-no problem in thymus

Front 15

Common Variable Immunodeficiency

-what is impaired?
-defect in?
-occur at what age? when do u see sx?
-diagnosis
-complications?

Back 15

-B and or T cells(defecient in ICOS)

-defect maturation of B-cells leads from either cannot have T and B cell interaction or B cell problem itself-->no plasma cells

-any age, 15-35

-lack plasma cells, dx is usually one of exclusion...cannot pinpoint whether problem is in T-cells or B cells

-increase susceptibility to respiratory infxns
-high prevlance of autoimmune disease

Front 16

Adenosine deaminase deficiency
-deficiency at what level? leads to?
-treatment?

Back 16

-enzyme deficiency at stem cell level which affects B and T cells maturation

-bone marrow transplant

Front 17

Severe Combined Immunodeficiency
-generally caused by
-most common form?
-autosomal recessive forms characterized by?
-leads to defects in?
-complications
-treatments?

Back 17

-group mutations impt for T-cell maturation

-X-linked, mutation in gamma chain of IL-2-Receptor(for activation of T cell)

-adensoine deaminase deficiency and HLA class I and class II antigen deficiencies(bare lymphocyte syndrome)

-complete/partial defective T/B cell fxn

-viral, bacterial and fungal infxns b4 6 months of age
-fungal infxns on mucosal surfaces

-antimicrobial and bone marrow transplant