Maternal T-cell engraftment associated with severe hemophagocytosis of the bone marrow in untreated X-linked severe combined immunodeficiency.
Maternal engraftment of T cells in severe combined immunodeficiency can lead to graft-versus-host disease of the skin and liver. We report the case of an infant with X-linked severe combined immunodeficiency, confirmed by DNA sequencing of the common gamma chain gene locus, in which this disorder's characteristic peripheral lymphocyte phenotype [T(-)B(+)NK(-)] was obscured by the postnatal onset of hemophagocytic syndrome that included severe B-cell lymphopenia, neutropenia, and anemia. Hemophagocytosis was most likely owing to maternal graft-versus-host disease, as perforin-expressing CD8 T cells, presumably of maternal origin, were prominent in the bone marrow and there was no concurrent severe infection.
Dvorak
Christopher C
CC
Division of Pediatric Stem Cell Transplantation, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. dvorakc@peds.ucsf.edu
Sandford
Amanda
A
Fong
Abraham
A
Cowan
Morton J
MJ
George
Tracy I
TI
Lewis
David B
DB
D001853:Bone Marrow / Q000473:pathology*; D006801:Humans; D007142:Immunoglobulin gamma-Chains / Q000235:genetics; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications; D016393:Lymphoma, B-Cell / Q000150:complications / Q000473:pathology; D008297:Male; D016511:Severe Combined Immunodeficiency / Q000628:therapy*; D013601:T-Lymphocytes / Q000637:transplantation*; D016896:Treatment Outcome; D053632:X-Linked Combined Immunodeficiency Diseases / Q000473:pathology / Q000628:therapy*
D007142:Immunoglobulin gamma-Chains