Kappa-chain deficiency. An immunoglobulin disorder

N Engl J Med. 1976 May 6;294(19):1026-30. doi: 10.1056/NEJM197605062941902.

Abstract

Since kappa-chain deficiency is an unusual condition, we studied the clinical and laboratory findings in a patient with this deficiency. The patient had cystic fibrosis with concurrent malabsorption, diabetes mellitus and IgA deficiency. The serum levels of IgM and IgG were 0.85 and 7.22 mg per milliliter, respectively. Kappa type IgM and IgG was not present in serum and external secretions; gamma, mu and lambda chains were probably polyclonal in character. Antibodies against kappa chains were not detected in either the patient or the mother. Plasma cells containing kappa-type immunoglobulins were absent in jejunum samples and bone marrow; kappa-chainbearing B lymphocytes could not be detected in blood and bone marrow. The serum of one of the patient's sisters contained trace amounts of kappa-type immunoglobulins. The patient displays a complete absence of kappa-type immunoglobulins, probably owing to a genetic defect.

MeSH terms

  • Antibodies, Anti-Idiotypic / analysis*
  • Antibody Formation
  • Antibody Specificity
  • Child, Preschool
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / immunology
  • Diabetes Mellitus, Type 1 / complications
  • Dysgammaglobulinemia / complications
  • Dysgammaglobulinemia / genetics
  • Dysgammaglobulinemia / immunology*
  • Genetic Linkage
  • Humans
  • Immunoelectrophoresis
  • Immunoglobulin A / analysis*
  • Immunoglobulin G / isolation & purification
  • Immunoglobulin Light Chains*
  • Immunoglobulin M / isolation & purification
  • Immunoglobulin kappa-Chains*
  • Immunologic Deficiency Syndromes / immunology*
  • Malabsorption Syndromes / complications
  • Male
  • Phenotype

Substances

  • Antibodies, Anti-Idiotypic
  • Immunoglobulin A
  • Immunoglobulin G
  • Immunoglobulin Light Chains
  • Immunoglobulin M
  • Immunoglobulin kappa-Chains