A Case of Omenn-Like Immunodeficiency Syndrome

Morren, Marie; Lierde, S. Van; Lacquet, F.; Ceuppens, Jan; Delabie, Jan; Dewolfpeeters, C.; Degreef, Hugo

doi:10.1159/000247476

Cited by 3 publications

(5 citation statements)

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“…Similar findings caused by graft‐ versus ‐host illness can be ruled out by proving the presence of circulating allogeneic T cells. However, sporadic cases have been reported [21–23], and mild variant or related disorders without maternal T cell engraftment have also been described [3–6]. These cases sometimes pose diagnostic problems, especially when some of the cardinal features are missing.…”

Section: Discussionmentioning

confidence: 99%

“…These conditions are classified as Omenn‐like syndrome and can be easily differentiated from true Omenn syndrome once the chimerism is identified within the patient. However, there have been several reported cases with clinical findings similar to Omenn syndrome, sharing some of the features with the illness [3–6]. It has been difficult to draw a clear distinction between Omenn syndrome and such variants in the absence of a known genetic background to explain the immunodeficiency.…”

Section: Introductionmentioning

confidence: 99%

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Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

Wada¹,

Takei²,

Kudo³

et al. 2000

Clinical and Experimental Immunology

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SUMMARYOmenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity. Although the clinical hallmarks of the disease are well defined, there have been several cases with clinical findings similar to, but distinct from Omenn syndrome. The data on immune functions and RAG gene mutations of such cases are limited. We described five Japanese infants from four unrelated families, including two cases of Omenn syndrome and three cases of related disorders. Sibling cases with typical Omenn phenotype were found to be compound heterozygotes of R396C and L885R mutations in RAG1. The former has been reported in European cases and may constitute a hot spot. The latter is a novel missense mutation. Infants with related disorders exhibited erythroderma, eosinophilia, hypogammaglobulinaemia, decreased number of B cells and skewing to Th2, and their lymph node specimens showed architectural effacement, lymphocyte depletion and histiocytic hyperplasia, each of which is seen characteristically in Omenn syndrome. However, in these cases serum IgE levels were low or undetectable. We found no mutation in RAG genes except for a K820R substitution in RAG1, which was regarded to be a functional polymorphism, in two of these cases. Our study suggests that RAG missense mutation may be a genetic abnormality unique to Omenn syndrome with characteristic clinical and laboratory findings. Variations of Omenn syndrome, or related disorders, may represent a different type of immunodeficiency, distinct from abnormalities in lymphoid-specific recombinase activity.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

Wada¹,

Takei²,

Kudo³

et al. 2000

Clinical and Experimental Immunology

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“…The basement membrane is destroyed allowing the penetration of some in¯ammatory cells into the epidermis. Dermal in®ltration is abundant and consists of histiocytes, eosinophils and T-lymphocytes [2,9,22,28,29,46]. Lymph node biopsy reveals a total eacement of the normal microscopic architecture.…”

Section: Pathologymentioning

confidence: 99%

“…(MOR-1) [28] was cured by supportive care only. The clinical picture was indeed in conformity with OS and GVHD was excluded.…”

Section: Treatmentmentioning

confidence: 99%

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Reviewing Omenn syndrome

et al. 2001

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Harville

Adams

Howard

et al. 1997

Journal of Clinical Immunology

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Omenn syndrome comprises a rare form of combined immunodeficiency with TH2-type features of eosinophilia and elevated IgE. Previous studies have led to reports of restricted heterogeneity in the T lymphocyte repertoire, and in vitro cloned T lymphocytes have been shown to produce IL-4 and IL-5. We hypothesized that (1) T cell receptor beta V(D)J DNA sequence analysis would confirm and further define the putative restricted heterogeneity, and (2) increased production of IL-4 and IL-5 should be found in nonstimulated T lymphocytes, if the molecular pathogenesis of Omenn syndrome is an uncontrolled TH2 state. We report the results of molecular analyses of T lymphocytes from an untreated 3-month-old patient. Oligoclonal T cell receptor beta variable gene usage was found. Sequence analysis revealed sets of identical V(D)J sequences, each in-frame, with apparently normal N-diversification and no obvious antigen combining site motif. From fresh, nonstimulated lymphocytes, proinflammatory TH1 cytokines could be detected, but TH2 cytokines could not, so that a simple TH1/TH2 paradigm cannot explain the eosinophilia and elevated IgE in Omenn syndrome. Our studies fully document for the first time at the molecular level that clonally expanded populations of T lymphocytes are present in Omenn syndrome.

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A Case of Omenn-Like Immunodeficiency Syndrome

Cited by 3 publications

References 3 publications

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

Reviewing Omenn syndrome

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