Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model.

[omenn syndrome]

Patients with Omenn syndrome (OS ) have hypomorphic RAG mutations and develop varying manifestations of severe combined immunodeficiency . It is not known which symptoms are caused directly by the RAG mutations and which depend on other polymorphic genes . Our current understanding of OS is limited by the lack of an animal model . In the present study , we identified a C 5 7 BL /10 mouse with a spontaneous mutation in , and reduced activity of , RAG 1 . Mice bred from this animal contained high numbers of memory-phenotype T cells and experienced hepatosplenomegaly and eosinophilia , had oligoclonal T cells , and demonstrated elevated levels of IgE , major symptoms of OS . Depletion of CD 4 + T cells in the mice caused a reduction in their IgE levels . Hence these "memory mutant " mice are a model for human OS ; many symptoms of their disease were direct results of the Rag hypomorphism and some were caused by malfunctions of their CD 4 + T cells .

Diseases
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Diseases presenting "elevated levels" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

aniridia

cadasil

canavan disease

congenital adrenal hyperplasia

epidermolysis bullosa simplex

erythropoietic protoporphyria

esophageal carcinoma

fabry disease

familial hypocalciuric hypercalcemia

hereditary cerebral hemorrhage with amyloidosis

inclusion body myositis

kabuki syndrome

omenn syndrome

phenylketonuria

primary effusion lymphoma

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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