Severe combined immunodeficiency syndrome associated with colonic stenosis

Abstract

Background: This is the first report in Mexico of a case of severe combined immunodeficiency syndrome (SCID) associated with colonic stenosis. The patient was an 8-month-old Mexican female who died at this age. She suffered infections due to microorganisms such as Mycobacterium tuberculosis, bacille Calmette-Guérin (BCG), Candida sp., and Pneumocystis carinii; and had frequent diarrhea. She was HIV-negative without familial history of immunodeficiency. The aim of the work was to analyze the immunologic status of this patient.

Methods: Peripheral blood from the patient and from a healthy matched control were analyzed by flow cytometry to determine peripheral leukocytes and production of cytokines and their receptors in T-lymphocytes and monocytes. Immunohistochemical analysis was performed in spleen and lymph node sections from the patient and control samples to assess alterations in architectural and cellular distribution within these lymphoid tissues.

Results: Peripheral blood analysis demonstrated reduced numbers of both T and B cells and defective expression of cytokines by activated T cells. Postmortem analysis revealed very small T and B cell zones in spleen and lymph nodes, absence of germinal centers and follicular dendritic cell networks, and two zones of stenosis at level of colon sigmoides.

Conclusions: As a whole, these data are consistent with severe combined immunodeficiency (SCID) syndrome; thus, we conclude that this patient may have had a variant of SCID syndrome associated with intestinal stenosis.