Pathology, Genetics, and Immunology

These flashcards cover key terms and concepts related to Chronic Granulomatous Disease (CGD), its physiological implications, diagnostic tests, and treatment options.

Chronic Granulomatous Disease (CGD)

A genetic disorder characterized by the inability of phagocytes to effectively kill certain bacteria and fungi due to a defect in the NADPH oxidase complex.

NADPH Oxidase

An enzyme complex responsible for producing reactive oxygen species (ROS) in phagocytes, essential for killing engulfed pathogens.

Reactive Oxygen Species (ROS)

Chemically reactive molecules containing oxygen, which are critical for the immune response and microbial killing.

Granuloma

A structured aggregate of immune cells that forms during an inflammatory response, often triggered by chronic infection or foreign substances.

Dihydrorhodamine Test (DHR)

A laboratory test used to assess the oxidative burst capacity of phagocytes; reduced DHR indicates a dysfunction in the oxidative burst.

Nitroblue Tetrazolium Test (NBT)

A diagnostic test that measures the ability of phagocytes to produce reactive oxygen species; lack of color change indicates a problem.

X-linked Recessive

A mode of inheritance where a gene causing a trait or disorder is located on the X chromosome; affects males more severely as they have only one X chromosome.

Humoral Immunity

A component of the immune system that is mediated by antibodies produced by B cells.

Cell-Mediated Immunity

A type of immunity that involves T cells and does not involve antibodies; crucial for controlling intracellular pathogens.

Leukocytosis

An increase in the number of white blood cells, often indicating infection or inflammation.

Neutrophilia

An increased level of neutrophils, a type of white blood cell, typically in response to infection or inflammation.

Chronic Granulomatous Disease (CGD)

A genetic disorder characterized by the inability of phagocytes to effectively kill certain bacteria and fungi due to a defect in the NADPH oxidase complex.

NADPH Oxidase

An enzyme complex responsible for producing reactive oxygen species (ROS) in phagocytes, essential for killing engulfed pathogens.

Reactive Oxygen Species (ROS)

Chemically reactive molecules containing oxygen, which are critical for the immune response and microbial killing.

Granuloma

A structured aggregate of immune cells that forms during an inflammatory response, often triggered by chronic infection or foreign substances.

Dihydrorhodamine Test (DHR)

A laboratory test used to assess the oxidative burst capacity of phagocytes; reduced DHR indicates a dysfunction in the oxidative burst.

Nitroblue Tetrazolium Test (NBT)

A diagnostic test that measures the ability of phagocytes to produce reactive oxygen species; lack of color change indicates a problem.

X-linked Recessive

A mode of inheritance where a gene causing a trait or disorder is located on the X chromosome; affects males more severely as they have only one X chromosome.

Humoral Immunity

A component of the immune system that is mediated by antibodies produced by B cells.

Cell-Mediated Immunity

A type of immunity that involves T cells and does not involve antibodies; crucial for controlling intracellular pathogens.

Leukocytosis

An increase in the number of white blood cells, often indicating infection or inflammation.

Neutrophilia

An elevated absolute neutrophil count (ANC), typically > 7,500/\mu L. It is a common clinical finding in response to:

1. Acute Bacterial Infection
   • Often presents with a 'left shift,' which is an increase in immature neutrophil 'band cells.'
2. Inflammation and Tissue Necrosis
   • Such as in myocardial infarction or severe burns.
3. Drug Effects
   • Glucocorticoids cause 'demargination' of neutrophils from the vessel walls into the circulating blood pool.
4. Leukemoid Reaction
   • An extreme elevation (> 50,000/\mu L) that mimics leukemia but is actually a reactive process.