Immunodeficiencies Flashcards
Immunodeficiency
defects in any part of immune response
Main classes of Immunodeficiency
primary - congenital defects
secondary acquired - external
Immunoglobulin Immunodeficiency Overview
defects in B-cell maturation or activation
relatively rare congenital diseases
Selective IgA Deficiency
most common immunodeficiency (arabs 1:150)
can have low to NO IgA
usually asymptomatic, or respiratory infections, digestive infections
sever reaction - anaphylaxis w/ blood transfusion
Common Variable Immunodeficiency
2nd most common immunoglobulin deficiency
patients have hypogammaglobulinemia of one or more classes
can result in severe infections
Common Variable Immunodeficiency Diagnosis
SPE
Quantify IgA, IgM, IgG w/ nephalometry
Common Variable Immunodeficiency Treatment
IV Ig
lifetime therapy
extremely expensive
DiGeorge Syndrome
small deletion of chromosome 22
affects organs & body parts, severity varies
childhood infections are common
DiGeorge Syndrome characteristics
low set ears, wide set downward slanting eyes
often a cleft palate
dsyfunctional or failed development of thymus - T cells function normally but there is a low number
Severe Combined Immune Deficiency (SCID)
genetic disease characterized by low levels and/or non-functional T & B lymphs
defects in gammaC subunit signaling
affects function of many cytokines
Opsonizaiton Defect
Complement deficiency
complement is required to remove immune complexes (Lupus)
defects in C1qrs, C2, C4
Lytic Deficiency
Defects in one of the following genes involved in the membrane attack complex (C5, C6, C7, C8, C9)
increased susceptibility to gram - bacteria especially NEISSERIA
Opsonization & Lytic Deficiency
Defects C3
high infection rate & high mortality
Complement Tests ordered
CH50- classical pathway activity
AH50- alternative pathway activity
Chronic Granulomatous Disease
disease category for the inability of phagocytes to undergo an oxidative burst
patients susceptible to catalase positive bacteria (Staph, nocardia, kleb)
