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- Title
Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency.
- Authors
Bégin, Philippe; Patey, Natalie; Mueller, Pascal; Rasquin, Andrée; Sirard, Alain; Klein, Christoph; Haddad, Élie; Drouin, Éric; Deist, Françoise
- Abstract
Purpose: G6PC3 deficiency presents as a complex and heterogeneous syndrome that classically associates severe congenital neutropenia with cardiac and urogenital developmental defects. Here we investigate the findings of T cell lymphopenia and inflammatory bowel disease in a child with G6PC3 deficiency due to compound heterozygous mutations in intron 3 (c.IVS3-1 G>A) and exon 6 (c.G778G/C; p.Gly260/Arg). Methods: Histological examination was conducted on all biopsy specimens. Immunophenotyping and lymphocyte proliferation assays were performed. Immunoglobulin levels and vaccine responses were measured. Results: The patient showed persistent global T cell lymphopenia, with only 8 to 13 % of thymic naive CD31CD45RA cells among CD4 T cells (normal range 27-60 %). Proliferation assays and vaccine responses were within normal limits. The gastrointestinal inflammatory lesions were very closely related to those of glycogen storage disease type 1b, with a Crohn's-like appearance but without granuloma or increased cryptic abscesses. The gastrointestinal disease responded to infliximab therapy. These findings were associated with a polyclonal hypergammaglobuliemia G. Conclusion: G6PC3 deficiency may present with inflammatory bowel disease and T cell lymphopenia. The diagnosis should thus be considered in a patient with chronic congenital neutropenia and gastrointestinal symptoms. Patients with confirmed disease should also undergo T cell phenotyping to rule out cellular immunodeficiency.
- Subjects
INFLAMMATORY bowel diseases; T cells; LYMPHOPENIA; NEUTROPENIA; GENETIC mutation; CELLULAR immunity; CD4 antigen; CELL proliferation; IMMUNOPHENOTYPING
- Publication
Journal of Clinical Immunology, 2013, Vol 33, Issue 3, p520
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-012-9833-6