AGE-RELATED-CHANGES IN SERUM IMMUNOGLOBULINS IN PATIENTS WITH FAMILIAL IGA DEFICIENCY AND COMMON VARIABLE IMMUNODEFICIENCY (CVID)

The concentration of serum immunoglobulins in individuals with IgA def iciency (IgAD) and CVID can vary with age to have practical implicatio ns for evaluation, therapy, and genetic analysis. Most IgAD and CVID p atients in our clinic population in the Southeastern United States hav e inherited part or all of two extended MHC haplotypes, referred to as haplotype 1 (HLA-DQB1 0201, HLA-DRS, C4B-Sf, C4A-0, G1-15, Bf-0.4, C2 -a, HSP-7.5, TNF alpha-5, HLA-B8, HLA-A1) and haplotype 2 (HLA-DQB1 02 01, HLA-DR-7, C4B-S, C4A-L, G11-4.5, Bf-0.6, C2-b, HSP-9, TNF alpha-9, HLA-B44, HLA-A29). In the present study, the clinic records of 68 CVI D patients and 73 IgAD patients were reviewed to determine whether pat ients with familial or MHC-associated IgAD or CVID experience changes in serum immunoglobulin concentrations. An increase in serum immunoglo bulin to the normal range was associated with clinical improvement in one patient with CVID and haplotype 2, two patients with IgAD and hapl otype 2, and one IgAD patient whose haplotype was not determined. Two patients with haplotype 1 and one with haplotype 2 had a significant d ecline in serum immunoglobulin: one progressed from normal to IgAD ass ociated with IgG subclass deficiencies, and two progressed from IgAD t o CVID. Five of the seven patients with notable changing serum immunog lobulin levels have a family member with either IgAD or CVID. The find ings suggest that familial, MHC-associated IgAD and CVID may be either progressive or reversible disorders, and emphasize the value of monit oring immunoglobulin levels in affected individuals and their family m embers.