Differentiation of materno-fetal GVHD from Omenn's syndrome in pre-BMT patients with severe combined immunodeficiency

Bone Marrow Transplant. 1994 Jul;14(1):157-9.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Transplantation
  • DNA / genetics
  • DNA / isolation & purification
  • Diagnosis, Differential
  • Female
  • Graft vs Host Disease / diagnosis*
  • Graft vs Host Disease / etiology*
  • Graft vs Host Disease / genetics
  • Histiocytic Sarcoma / diagnosis*
  • Histiocytic Sarcoma / etiology*
  • Histiocytic Sarcoma / genetics
  • Humans
  • Infant
  • Male
  • Maternal-Fetal Exchange / immunology*
  • Polymerase Chain Reaction
  • Pregnancy
  • Severe Combined Immunodeficiency / complications*
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / therapy
  • Syndrome
  • Y Chromosome


  • DNA