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Antibody deficiency with normal or elevated immunoglobulins

Related gene: Unknown

Inheritance pattern: Unknown

These patients have severe infections similar to patients with common variable immune deficiency (CVID), but their immunoglobulin levels are normal or elevated. They have decreased antibody levels to most vaccine antigens, both protein and polysaccharide, which differentiates them from patients with specific antibody deficiency.

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