Immunodeficiency

Question 1

Chronic mucocutaneous candidiasis

Answer 1

Refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial infections of the skin, mucous membranes, and nails with Candida organisms, usually Candida albicans.

Question 2

X-linked agammaglobulinemia

Answer 2

People with XLA have very few B cells, which are specialized white blood cells that help protect the body against sinopulmonary infection.

Mutations in the BTK gene lead to abnormal development of B cells

Question 3

Wiskott-Aldrich syndrome

Answer 3

X linked inheritance of mutation in WAS gene involved in cytoskeleton signalling protein. Features include microthrombocytopenia, eczema and reduced WBC function.
Associated with an increased risk of lymphoma

Question 4

Severe combined immunodeficiency

Answer 4

Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children.

Mutations in the IL2RG gene prevent lymphocytes from developing and functioning normally.