Differentiation of materno-fetal GVHD from Omenn's syndrome in pre-BMT patients with severe combined immunodeficiency.
Materno-fetal GVHD is commonly a fatal condition occurring in patients with severe combined immunodeficiency (SCID). Definitive diagnosis is often difficult. We describe a patient with clinical features suggestive of materno-fetal GVHD but in whom histology was atypical. Y chromosome-specific PCR amplification analysis of DNA extracted from the skin biopsy was performed to detect chimeric evidence of infiltrating maternal T cells. This revealed strong positivity for the Y chromosome, indicating lack of maternal T cell engraftment and thus confirming a diagnosis of Omenn's syndrome, a variant of SCID in which atypical lymphocyte clones give rise to a similar picture. In contrast, Y chromosome-specific PCR analysis of skin biopsy DNA from a male patient with a rash clinically and histologically typical of materno-fetal GVHD revealed absence of the Y chromosome, indicating infiltration of maternal cells and thus confirming the diagnosis of materno-fetal GVHD. Y chromosome-specific PCR analysis is thus a useful investigation for the differentiation of materno-fetal GVHD from Omenn's syndrome in pre-BMT SCID patients presenting with unexplained rash.
University Department of Pathology, Newcastle General Hospital, Newcastle-upon-Tyne, UK.
A L
AL
Appleton
A
A
Curtis
J
J
Wilkes
A J
AJ
Cant
D016026:Bone Marrow Transplantation; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D003937:Diagnosis, Differential; D005260:Female; D006086:Graft vs Host Disease / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D054747:Histiocytic Sarcoma / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008431:Maternal-Fetal Exchange / Q000276:immunology*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000276:immunology / Q000628:therapy; D013577:Syndrome; D014998:Y Chromosome
D004247:DNA