Severe selective IgM deficiency.

Abstract

Among the primary antibody deficiency syndromes, severe selective IgM deficiency (also previously known as type V dysgammaglobulinaemia) is rare, and the majority of previous reports have indicated a fatal outcome. Three adult patients who were found to have a persistently low serum IgM are described. This deficiency was not obviously related to their presenting illness; in two of the patients, who were investigated in detail, it appeared to be of no immediate consequence.

Pediatric Selective Igm Immunodeficiency

“…Dysgammaglobulinemia has been reported with several GI conditions including steatorrhea, nodular lymphoid hypoplasia, Crohn's disease, ulcerative colitis, amyloidosis, disaccharidase deficiencies, pernicious anemia, schlerosing cholangitis, celiac disease and protein losing enteropathies [4,20,50]. In particular, celiac disease has been reported in association with several primary immunodeficiencies including isolated severe SIgAID [52,53] or reduced IgA levels (20-<60 mg/100 mL) [20,54,55], panhypogammaglobulinemia [53] and isolated combined IgA and IgM deficiency [53].…”

“…Normal peripheral T and B cell phenotypes [42,43,47,48]; increased CD8+ cells and inverted CD4/CD8 ratios [40]; increased CD4+ cells and decreased CD8+ cells [47] Reduced number of IgM secreting B cells [45,46] with a failure of secreted mu mRNA synthesis [46]; normal surface IgM expression on B cells [10,17,35,43,[47][48][49]; normal secreted mu mRNA synthesis [49] Mitogen/antigen stimulation Mitogen and antigen stimulated B cell proliferation assays with normal IgM responses [11,42]; decreased antigen proliferation IgM responses [4,17,40,41,[45][46][47][48][49] Deficient IgM responses to viral antigens and/or endotoxin containing vaccines and deficient isohemagglutinin antibodies [24] Failure to respond to antigen challenge with tetanus toxoid, pneumococcal vaccine, meningococcus vaccine, Salmonella O and H antigens, and typhusparatyphus vaccine [10-12, 19, 42, 50] Complement No complement deficits [10] Delayed hypersensitivity Reduced delayed cutaneous hypersensitivity [10,17]; normal delayed cutaneous hypersensitivity [11,42] Phagocytosis Normal phagocytosis and killing of encapsulated bacteria [10]; nominally affected opsonification of yeast particles [11]; select opsonic defect against Pseudomonas [51] not screened for or identified in our retrospective practice database analysis. These cases are typically found dur...…”

“…It is said to be a rare primary immunodeficiency, with the prevalence of completely deficient IgM patients reported as approximately 0.03% in a community-based study. [1] However, the prevalence of those with deficient but detectable levels of IgM is closer to 0.1-3.0% in hospitalized patients [1,4,5], 1.6% in an unselected community health screening [1,6], 0.07% in an allergy and immunology clinic [7], and 0.26% in an adult allergy and immunology clinic [8]. There is a slightly higher penetration of SIgMID in males (1.97%) versus females (1.42%) [1].…”

Selective IgM Deficiency with T Cell Defects and Mycobacterium Avium Complex (MAC) Infection

“…The most common presentation is recurrent and chronic upper and lower respiratory tract infections and sepsis [2][3][4][5]23]. B cells, T cells and T cell subsets, and NK cells are normal [5,15,[21][22][23][24].…”

“…Selective IgM deficiency can be asymptomatic or may symptomatically present with infections from encapsulated bacteria and viruses, some of which can be serious and even lifethreatening infections varying from pneumonia to septicemia and meningitis [2][3][4]. Hobbs et al, [3] first described selective IgM deficiency in 2 children with fulminant meningococcus septicemia.…”