Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency
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ORIGINAL RESEARCH
Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency Philippe Bégin & Natalie Patey & Pascal Mueller & Andrée Rasquin & Alain Sirard & Christoph Klein & Élie Haddad & Éric Drouin & Françoise Le Deist
Received: 9 October 2012 / Accepted: 30 October 2012 / Published online: 20 November 2012 # Springer Science+Business Media New York 2012
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 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.
P. Bégin : P. Mueller : A. Sirard : É. Haddad : É. Drouin : F. Le Deist Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Canada
P. Bégin Division of Immunology, Centre Hospitalier de l’Université de Montréal (CHUM), Montreal, Canada
P. Bégin : É. Haddad Division of Immunology, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Canada P. Mueller : A. Rasquin : É. Drouin Division of Gastroenterology, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Canada A. Sirard Division of General Pediatrics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, Canada P. Bégin Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CRCHUM), Montreal, Canada
N. Patey Department of Pathology, CHU Sainte-Justine and Université de Montréal, Montreal, Canada
C. Klein University Children’s Hospital, Ludwig Maximilians University, Munich, Germany
É. Haddad : F. Le Deist (*) Department of Immunology and Microbiology, CHU Sainte-Justine and Université de Montréal, 3175, Côte Sainte-Catherine, Montreal, Québec, Canada H3T 1C5 e-mail: francoise.
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