Omenn's syndrome--pathologic arguments in favor of a graft versus host pathogenesis: a report of nine cases.
Histologic, histochemical, and histoenzymatic investigations of nine cases of Omenn's disease showed generalized lymphoid depletion, including B cells and all T-cell subpopulations; an apparent proliferation of alpha-naphthyl acetate esterase-, acid phosphatase-, OKM1-positive macrophages and T6 interdigitating cells; a thymic hypoplasia with arrest of hassallian epithelial maturation; starlike fibrinous deposits in the bone marrow; and extensive cutaneous lesions characterized by hyperkeratosis, apoptotic cell death associated with the intraepidermal presence of T4+ and T8+ cells, localized necrosis of the basement membrane, expression of Ia antigens by malpighian cells, and progressive loss of the T6+ Langerhans' cells. These lesions, mainly the skin and bone marrow changes, are reminiscent of those observed in acute graft versus host reaction. Although a blood chimerism has never been demonstrated, these pathologic observations support the hypothesis of graft versus host disease in a primary cellular immunodeficiency and the persistence of the proliferating maternal cells in the peripheral target organs.
Jouan
H
H
Laboratoire d'Anatomie Pathologique, Hôpital Pontchaillou, Chu de Rennes, France.
Le Deist
F
F
Nezelof
C
C
D001853:Bone Marrow / Q000473:pathology; D004802:Eosinophilia / Q000209:etiology / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D005260:Female; D006086:Graft vs Host Disease / Q000276:immunology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008198:Lymph Nodes / Q000473:pathology; D008206:Lymphatic Diseases / Q000209:etiology / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D008297:Male; D012867:Skin / Q000473:pathology; D013154:Spleen / Q000473:pathology; D013577:Syndrome; D013950:Thymus Gland / Q000473:pathology