Abstract
On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.
MeSH terms
-
Antigens, CD / analysis
-
Autoimmune Diseases / congenital
-
Autoimmune Diseases / genetics
-
Autoimmune Diseases / immunology
-
Bone Diseases, Developmental / complications*
-
Bone Diseases, Developmental / genetics
-
Bone Diseases, Developmental / immunology
-
Bone and Bones / pathology
-
Child
-
Child, Preschool
-
Dwarfism / complications*
-
Dwarfism / genetics
-
Dwarfism / immunology
-
Female
-
Humans
-
Kidney Failure, Chronic / complications*
-
Kidney Failure, Chronic / genetics
-
Kidney Failure, Chronic / immunology
-
Leukocyte Count
-
Male
-
Pigmentation Disorders / complications*
-
Pigmentation Disorders / genetics
-
Pigmentation Disorders / immunology
-
T-Lymphocytes / immunology
-
T-Lymphocytes / physiology