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Published on: April 21, 2015
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency
Philippe Bégin1, Natalie Patey, Pascal Mueller
1Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Canada.
Insights
G6PC3 deficiency can cause T cell lymphopenia and inflammatory bowel disease in children. Early diagnosis is crucial for managing congenital neutropenia and gastrointestinal symptoms.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- G6PC3 deficiency classically presents with congenital neutropenia and developmental defects.
- This syndrome's heterogeneity necessitates investigating broader clinical manifestations.
- T cell lymphopenia and inflammatory bowel disease are less common but significant associations.
Purpose of the Study:
- To investigate T cell lymphopenia and inflammatory bowel disease in a child with G6PC3 deficiency.
- To analyze the genetic basis (compound heterozygous mutations) of G6PC3 deficiency in this patient.
- To characterize the immunophenotype and clinical presentation.
Main Methods:
- Histological examination of biopsy specimens.
- Immunophenotyping and lymphocyte proliferation assays.
- Measurement of immunoglobulin levels and vaccine responses.
Main Results:
- The patient exhibited persistent global T cell lymphopenia, with significantly reduced naive CD4 T cells.
- Gastrointestinal lesions resembled Crohn's disease but lacked granulomas.
- The inflammatory bowel disease responded to infliximab therapy, with polyclonal hypergammaglobulinemia G observed.
Conclusions:
- G6PC3 deficiency should be considered in patients with congenital neutropenia and gastrointestinal issues.
- T cell lymphopenia can be a presenting feature of G6PC3 deficiency.
- Cellular immunodeficiency screening, including T cell phenotyping, is recommended for confirmed cases.
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 CD31(+)CD45RA(+) 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.
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