Common Variable Immunodeficiency: Test Indications and Interpretations

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

“…18 The leaky maturation block within the B-precursor compartment at the pre-B-II stage (Figure 4) most closely resembles that observed in X-linked agammaglobulinemia, which results from mutations in Bruton tyrosine kinase (Btk) and accounts for 85% of patients with defects in early B-cell development. 19 However, direct sequencing of BTK gene coding exons, splice sites, and BTK transcript products failed to identify any mutations; likewise for the l5/14.1 gene, which encodes a component of the pre-Breceptor complex transiently expressed by B precursors, deficiency of which causes a similar phenotype.…”

Descriptive Review and Analysis of Immunoglobulin Utilization Management from 2,548 Prior Authorization Requests

“…Objective measures of immune system function can be obtained through such diagnostic means as vaccine response, total immunoglobulin levels, immunoglobulin isotypes, and subclass levels that can be referenced to determine whether Ig replacement is warranted. [17][18][19][20][21] The patient's detailed history of infections is also essential. Patient-specific criteria require clinical interpretation and often do not fit well into algorithms derived for the purpose of determining insurance approval.…”

Acute inflammatory myelopathies

“…CVID is a clinically heterogeneous group of primary immune deficiency disorders characterized by hypogammaglobulinemia, resulting in an increased propensity for infection, and is caused by a variety of predisposing genetic alleles (Weiler and Bankers-Fulbright, 2005). Treatment consists primarily of supplementation with IVIg.…”