Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity

Lancet. 1979 Jul 21;2(8134):115-8. doi: 10.1016/s0140-6736(79)90002-3.

Abstract

Three siblings presented in early childhood with central-nervous-system (CNS) dysfunction, candida dermatitis, keratoconjunctivitis, and alopecia. Two were studied immunologically and had absent delayed-hypersensitivity skin-test responses and absent in-vitro lymphocyte responses to candida antigen. One of them had selective IgA deficiency and no antibody response to pneumococcal polysaccharide immunisation, and the other had a subnormal percentage of T lymphocytes in peripheral blood. The first two siblings died with progressive CNS deterioration and overwhelming infection. The third child, who presented with a periorificial candida dermatitis, alopecia, keratoconjunctivitis, and intermittent ataxia at eighteen months of age, had intermittent lactic acidosis and raised excretion of beta-hydroxyproprionate, methylcitrate, beta-methylcrotonylglycine, and beta-hydroxyisovalerate in urine. After four days of oral biotin, 10 mg/per day, the metabolites in her urine were significantly reduced, suggesting a biotin-responsive multiple carboxylase deficiency. These findings, taken with previous reports of immune defects in patients with disorders of branched-chain aminoacid catabolism, suggest a new biochemical basis for primary immunodeficiency disease.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alopecia / etiology
  • B-Lymphocytes / immunology*
  • Biotin / therapeutic use
  • Candidiasis, Cutaneous / etiology
  • Carboxy-Lyases / deficiency*
  • Cerebellar Ataxia / etiology
  • Child, Preschool
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / complications*
  • Immunologic Deficiency Syndromes / drug therapy
  • Immunologic Deficiency Syndromes / genetics
  • Infant
  • Keratoconjunctivitis / etiology
  • Male
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / genetics
  • T-Lymphocytes / immunology*

Substances

  • Biotin
  • Carboxy-Lyases