immmuno lec 16 immunodeficiency

Primary Immunodeficiency Disease (PID)

Inherited genetic defects resulting in a lack of immune components, typically becoming evident shortly after birth

Secondary Immunodeficiency Disease

Immune system abnormalities caused by environmental factors like malnutrition, radiation, or immunosuppressive drugs rather than genetic inheritance

HIV

example of acquired immunodeficiency disease

Severe Combined Immunodeficiency (SCID)

The most severe class of immunodeficiency, occurring when both T-cell and B-cell development are disrupted

TCR Excision Circles (TRECs)

Small DNA circles measured in newborn screenings to detect severe T-cell deficiencies; their absence indicates a failure in T-cell rearrangement

Transient Hypogammaglobulinemia

A condition where an infant's intrinsic IgG production is delayed for 3-6 months after maternal IgG wanes, often leading to recurrent bacterial infections

Selective IgA Deficiency (SIgA)

The most common primary immunodeficiency (1 in 500), defined by serum levels less than 7mg/dL and potentially causing increased respiratory or GI infections

X-Linked Agammaglobulinemia

A rare genetic disorder primarily in males where B-cells fail to mature, resulting in an absence of antibodies to all infectious agents

Bruton’s Tyrosine Kinase (BTK)

The enzyme necessary for B-cell maturation and signal transduction; mutations in the gene for this enzyme cause XLA

DiGeorge Syndrome

Also known as Congenital Thymic Aplasia, this condition is caused by a Chromosome 22 deletion (CATCH-22) and leads to thymus hypoplasia or aplasia

Bare Lymphocyte Syndrome

A form of SCID where the absence of MHC II markers prevents the presentation of exogenous antigens to helper T (Th) cells.. (only missing MHC I marker = no immunodeficiency!)

Adenosine Deaminase (ADA) Deficiency

An autosomal recessive SCID where the lack of the ADA enzyme leads to a toxic buildup of deoxyadenosine, which is lethal to immature lymphocytes

Chronic Granulomatous Disease (GCD)

An X-linked condition where neutrophils and macrophages lack the NADPH oxidase needed to produce superoxide radicals for killing pathogens

Leukpcyte Adhesion Deficiency (LAD)

A rare disorder where defects in cellular adhesion molecules (integrins) prevent immune cells from migrating to infection sites, resulting in soft tissue infections without pus

Intravenous Immunoglobulin (IVIG)

A common treatment for humoral deficiencies, involving pooled and fractionated IgG from 1,000 to 15,000 donors

Acquired Immunodeficiency Disease (AIDS)

A major secondary immunodeficiency caused by HIV, which results in the depletion of CD4+ helper T cells

C3

One of many abnormalities of the complement system is of how redundant it is, and how everything centers on —- processing