A lymphoproliferative syndrome, “cutaneous dystrophy” and combined immune deficiency with lack of helper T-cell factor

Wyss, M; Fliedner, V von; Jacot-Des-Combes, Eliane; Jeannet, M; Despont, J. P.; Kapançi, Y; Cox, Jeremiah N.

doi:10.1016/0090-1229(82)90068-x

Cited by 26 publications

(15 citation statements)

References 23 publications

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“…In contrast, the lymph nodes and thymus are profoundly depleted of lymphocytes. As the lesions are very similar to those observed in graft-versus-host disease (GVHD)' (5)(6)(7)(8) it has been proposed that GVHD is causal, but this has not been substantiated by the detection of foreign T lymphocytes (5)(6)(7)(8)(9). The autosomal recessive inherited nature of the syndrome strongly suggests that it is a primary immunodeficiency (1).…”

Section: Introductionmentioning

confidence: 55%

“…Blood T lymphocyte and eosinophil numbers are high, but there is marked lymphocyte depletion in the thymus and lymphoid tissues (1)(2)(3)(4)(5)(6)(7)(8)(9). The syndrome is clearly due to an intrinsic defect of the lymphocyte lineage since it is curable by bone marrow transplantation (22).…”

Section: Discussionmentioning

confidence: 99%

“…Omenn's syndrome is a genetic disorder with recessive autosomal inheritance (1)(2)(3)(4)(5)(6)(7)(8)(9), characterized by lymphocytic infiltration ofthe skin, gut, liver, and spleen, leading to erythroderma and protracted diarrhea with failure to thrive. Blood T lymphocyte and eosinophil numbers are high, but there is marked lymphocyte depletion in the thymus and lymphoid tissues (1)(2)(3)(4)(5)(6)(7)(8)(9).…”

Section: Discussionmentioning

confidence: 99%

“…Omenn's syndrome or combined immunodeficiency with hypereosinophilia is characterized by the early occurrence of diffuse erythroderma, hepatosplenomegaly, protracted diarrhea, and failure to thrive (1)(2)(3)(4)(5)(6)(7)(8). A large number ofpoorly functional T cells and eosinophils are present in the blood and infiltrate the skin, gut, liver, and spleen (5)(6)(7)(8).…”

Section: Introductionmentioning

confidence: 99%

“…A large number ofpoorly functional T cells and eosinophils are present in the blood and infiltrate the skin, gut, liver, and spleen (5)(6)(7)(8). In contrast, the lymph nodes and thymus are profoundly depleted of lymphocytes.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).

Basile¹,

Deist²,

Villartay³

et al. 1991

J. Clin. Invest.

160

101

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We report the immunological characteristics of five patients with Omenn's syndrome, a rare inherited immunodeficiency also known as combined immunodeficiency with hypereosinophilia. The syndrome is characterized by T cell infiltration of skin, gut, liver, and spleen leading to diffuse erythroderma, protracted diarrhea, failure to thrive, and hepatosplenomegaly. Blood T cells as well as those infiltrating the skin and gut were found to express activation markers and were partially activated by mitogens but not by antigens. Although the lesions resembled those in graft-versus-host disease, the blood T cells were shown by DNA haplotype analysis using probes revealing variable number of tandem repeats to belong to the patients as well as the T cells infiltrating the gut and skin in one patient. A given T cell subset (TCRa#+, CD4+/CD8+, or TCRy'y) was predominant in each patient, with a specific distribution in the skin lesions. Moreover, the study of T cell receptor ,B, 'y, and gene rearrangements in four patients revealed oligoclonality involving CjQ1, C,2., or different VyJy or VSJ6 genes. This indicates that restricted heterogeneity of the T cell repertoire, previously reported in one case, is a major feature of this syndrome. The occurrence of alymphocytosis-type severe combined immunodeficiency in the brother of one of the patients suggests that the restricted heterogeneity of T cell receptor gene usage in Omenn's syndrome may arise from leakiness, within the context of a genetically determined faulty T cell differentiation. (J. Clin. Invest. 87:1352-1359

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