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Kappa light chain deficiency

Related gene: IGKC

Inheritance pattern: Autosomal recessive

Each immunoglobulin molecule contains two heavy chains (which determine the Ig class such as IgG or IgA) and two light chains, either both lambda or both kappa light chains. Kappa light chain deficiency is inherited from both parents (autosomal recessive). Susceptibility to infection may be due to reduced activation of B cells to make antibodies and to a reduced variety of antibodies. However, some patients may be asymptomatic.

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Other antibody deficiencies 

Similar to the patients with X-linked agammaglobulinemia (XLA)hyper IgM syndromecommon variable immune deficiency (CVID), and specific antibody deficiency (SAD), individuals with less common antibody deficiencies usually present with upper respiratory infections or infections of the sinuses or lungs, typically with organisms like Streptococcus pneumoniae and Haemophilus influenzae. Laboratory studies show low immunoglobulins and/or deficient specific antibody production. Many of these disorders also include abnormalities in the cells responsible for generating or maintaining an antibody response. The patients often improve with antibiotics but get sick again when these are discontinued. The cornerstone of therapy for antibody deficiency disorders is immunoglobulin (Ig) replacement therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA