Progressive lymphoid system deterioration: a new familial lymphopenic immunological deficiency disease.

A familial disorder characterized by rapidly developing haematopoietic and lymphoid tissue depletion with death in the 2nd year of life is described. The onset of symptoms is in the 2nd year of life and is characterized by chronic upper respiratory infections, otitis media, oral and cutaneous moniliasis, pneumonia, and bleeding. Only IgG and IgM serum levels are altered, and their progressive depletion was documented during a 6-month period of observation in one case. The IgA system is relatively unaffected by this process which is consistent with observations of others suggesting its independence from the other immunoglobulin systems. Lymphopenia developed as the disease progressed, and in the advanced stage cutaneous delayed hypersensitivity was absent. However, a normal lymphocyte response to phytohaemagglutinin persisted. The thymus was small and lacked corticomedullary differentiation, but it contained Hassall's corpuscles and well-developed blood vessels.