Properdin deficiency

Primary immunodeficiency diseases

Published in Gabriel Virella, Medical Immunology, 2019

While there are known deficiencies in virtually all components of the complement cascade, clinical findings are highly variable and dependent on the pathway (classical or alternative) impacted by the defect. Symptoms range from an increased risk for the development of autoimmune disease, angioedema, to recurrent infections. Figure 29.2 shows the complement cascade and the location and phenotype of common deficiencies that are classified as based on high or low susceptibility to infections. Most complement deficiencies have autosomal-dominant inheritance except properdin deficiency, which is X-linked.

Complement system network in cell physiology and in human diseases

View Article

Journal Information

Published in International Reviews of Immunology, 2021

Roberta Romano, Giuliana Giardino, Emilia Cirillo, Rosaria Prencipe, Claudio Pignata

Complement deficiencies can be hereditary (Table 1) or acquired. The inherited forms are all transmitted in an autosomal recessive manner, with the exception of properdin deficiency, which is X-linked recessive and C1-esterase inhibitor, that is autosomal dominant [1]. Complement deficiencies account for approximately 1–6% of all inborn errors of immunity and are generally caused by null alleles [1,27,28]. In Caucasian population, C2 deficiency occurs in 1:20,000 individuals. A prevalence of 5% has been reported for Mannose Binding Lectin deficiency, while deficiencies of C4A and C4B show prevalence rates of 11–22% and 30–45%, [7,29]. Overall, these defects have been observed in up to 20% of patients with disseminated Neisseria infections [30].

Properdin deficiency

Explore chapters and articles related to this topic

Primary immunodeficiency diseases

Complement system network in cell physiology and in human diseases