Immunological problems

Abstract

Immunological problems can develop as permanent key manifestations of a metabolic disease (e.g., adenosine deaminase deficiency) or can occur inconstantly in individual patients. Inherited metabolic diseases associated with T cell immunodeficiency mainly feature purine nucleoside phosphorylase deficiency. This disease is characterized by severe viral, bacterial, or fungal infections. Milder impaired T cell function is sometimes seen in lysinuric protein intolerance, Menkes disease or Zellweger syndrome. B cell immunodeficiency has been observed in patients with transcobalamin II deficiency or propionic acidemia. Adenosine deaminase deficiency represents the best characterized inherited metabolic disease with combined T and B cell immunodefi-ciencies. Recurrent infections caused by a broad variety of microorganisms often become life-threatening. Bone marrow transplantation has been successful in some patients. Besides adenosine deaminase deficiency, immu-nological dysfunction affecting both the B and T cell lines has been reported in acrodermatitis enteropathica, biotinidase and holocarboxy-lase synthetase deficiencies, hereditary orotic aciduria, deficiency of intestinal folic acid absorption, α-mannosidosis, and in some patients with methylmalonic aciduria. Phagocytic dysfunction and neutropenia are characteristic findings in glycogen storage disease type I non-a. Dysfunction of phagocytes or neutropenia is also frequently observed in classical galactosemia, X-linked cardioskele-tal myopathy (Barth syndrome), glutathione synthetase deficiency, or Pearson syndrome. NK cell immunodeficiency is very rarely associated with inborn errors of metabolism. In single cases, this immunological dysfunction has been reported in lysinuric protein intolerance. © 2010 Springer-Verlag Berlin Heidelberg.