Primary Immunodeficiency Disorders

Flashcards covering key vocabulary and concepts related to primary immunodeficiency disorders discussed in the lecture.

Primary Immunodeficiency Disorders

Disorders resulting from defects in T cells, B cells, combined T and B cells, complement deficiencies, or phagocyte deficiencies.

Clinical Indicator of B Cell Deficiencies

Increased risk of recurrent pyogenic infections and infections with encapsulated bacteria, suggesting a B cell deficiency.

Clinical Indicator of T Cell Deficiencies

Increased risk of infection with intracellular bacterial organisms, fungal and viral infections, malignancies, and autoimmune disorders, suggesting a T cell deficiency.

Selective IgA Immunodeficiency

The most common primary immunodeficiency, characterized by a complete lack of IgA in the bloodstream, leading to recurrent mucosal infections.

Common Variable Immunodeficiency

Deficiency of at least two types of immunoglobulin in the plasma, such as IgA and IgG, leading to recurrent pyogenic infections and increased risk of autoimmune disorders and malignancies.

Hyper IgM Syndrome

Excessively high levels of IgM in the bloodstream with low levels of other immunoglobulins (IgG, IgA), due to a defect in CD40 ligand, resulting in impaired class switching and recurrent pyogenic infections.

Bruton's or X-linked Agammaglobulinemia

Inherited disorder caused by a defect in Bruton's tyrosine kinase, leading to a complete lack of B cells and immunoglobulins in the blood, resulting in recurrent pyogenic infections after two months of life.

Wiskott-Aldrich Syndrome

Syndrome caused by a defect in the WAS gene, affecting the interaction between cells and cytoskeletal structures, resulting in immunodeficiency, thrombocytopenia, eczema, and microplatelets on blood smear.

DiGeorge Syndrome

Also called velocardiofacial syndrome or thymic aplasia, caused by a defect in the development of the third and fourth pharyngeal pouches, leading to cardiac defects, abnormal facial features, thymic aplasia, cleft palate, and hypocalcemia.

Chronic Mucocutaneous Candidiasis

Disorder due to defect of cell-mediated immunity, characterized by recurrent, chronic candidal infections involving the skin, mucous membrane, and nails.

Job's Syndrome (Hyper IgE Syndrome)

Syndrome with very high levels of IgE in the bloodstream, recurrent cold abscesses, and eczema, due to a defect in gamma interferon production by helper T cells, leading to reduced macrophage function.

Severe Combined Immunodeficiency (SCID)

Severe immunodeficiency caused by a defect in T and B cell function, leading to recurrent infections, cancers, autoimmune disorders, and failure to thrive.

Omenn Syndrome

SCID caused by recombinase enzyme defects, characterized by immunodeficiency, erythroderma, and skin peeling.