Leukocytes from four patients with complete or partial Leu-CAM deficiency contain the common beta-subunit precursor and beta-subunit messenger RNA

J Clin Invest. 1987 Mar;79(3):1010-5. doi: 10.1172/JCI112868.

Abstract

Deficiency of a family of three leukocyte adhesion molecules (Leu-CAM) is associated with recurrent and life-threatening bacterial infections in man. Each of the three antigens, Mo1, LFA-1, and Leu M5 has a distinct alpha subunit noncovalently associated with a common beta subunit that appears to be required for the expression of these antigens on the cell surface. To investigate the molecular basis of Leu-CAM deficiency, we studied leukocytes from four unrelated patients suffering from complete or partial Leu-CAM deficiency using immunoprecipitation of metabolically labeled proteins, RNA extraction, and Northern blot analysis. We found that B cells from all four patients synthesized a normal sized beta subunit precursor that either failed to "mature" or matured only partially to the membrane expressed form. B cells from all four patients also had a single normal sized beta subunit mRNA of approximately 3.4 kb. Leu-CAM deficiency, in these unrelated patients, is not due to the absence of the beta chain gene or to aberrant splicing of its mRNA and are consistent with a defective beta subunit gene resulting in abnormal posttranslational processing of the synthesized molecule.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antigens, Surface / genetics
  • B-Lymphocytes / metabolism*
  • CD18 Antigens
  • Cell Transformation, Viral
  • DNA / genetics
  • Herpesvirus 4, Human
  • Humans
  • Immunosorbent Techniques
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics
  • Nucleic Acid Hybridization
  • Protein Precursors / biosynthesis*
  • Protein Processing, Post-Translational
  • RNA, Messenger / genetics*
  • Transcription, Genetic

Substances

  • Antigens, Surface
  • CD18 Antigens
  • Membrane Proteins
  • Protein Precursors
  • RNA, Messenger
  • DNA