Celiac disease has been associated with selective IgA immunoglobulin deficiency. A celiac disease cohort of 234 biopsy-defined adults (including 73 males and 161 females) from a 30-year period from 1982 to 2011 was reviewed. A total of 7 with selective IgA immunoglobulin deficiency were noted, or about 3%. All were female with an initial positive biopsy for untreated celiac disease. All had characteristic small intestinal biopsy features of severe histopathological adult disease and additional biopsies demonstrated a histopathological response after 1 to 10 years on a strict gluten-free diet. For 6 of the 7, diagnosed at ages 24 to 40 years, follow-up biopsies were either normal or showed only minimal epithelial lymphocytosis. In addition, a 71 year old female had a limited but definite histopathological response to a gluten-free diet. Although there was no microscopic evidence for a malignant lymphoma, added biopsies for molecular gene re-arrangement studies revealed a monoclonal lymphocyte population suggesting an occult or cryptic T-cell lymphoma. Gastric and colonic biopsies showed no abnormalities or evidence of epithelial lymphocytosis. In all of those tested, IgA antibodies to tissue transglutaminase were detected, occasionally even at high levels. In these, a gluten-free diet serological response was detected. Together, these findings demonstrate a heterogeneous serological response to a gluten-free diet in adult celiac disease accompanied by selective immunoglobulin deficiency.

IgA deficiency, celiac disease, immunodeficiency, tissue transglutaminase, duodenal biopsy