RAG1 reversion mosaicism in a patient with omenn syndrome.

[omenn syndrome]

To identify mechanisms of disease in a child born to consanguineous parents , who presented with Omenn syndrome (OS ) and was found to carry a heterozygous RAG 1 mutation in peripheral blood DNA .Mutation analysis was performed on whole blood and buccal swab DNA . Recombination activity of the mutant RAG 1 protein and diversity of T cell repertoire were tested .Apparent heterozygosity for a novel , functionally null RAG 1 mutation in peripheral blood DNA from a patient with OS was shown to be secondary to true somatic reversion . Analysis of T cell repertoire demonstrated expression of various TCRBV families , but an overall restricted pattern .This is the first case of true somatic reversion of a RAG 1 mutation in a patient with OS . The reversion event likely occurred at a stage where only a limited pool of T cell progenitors capable of performing V (D )J recombination could be generated . This work emphasizes the importance of performing functional studies to investigate the significance of novel genetic variants , and to consider somatic reversion as a possible disease modifier in SCID .

Diseases
Validation

Diseases presenting "peripheral blood" symptom

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

aniridia

cohen syndrome

congenital toxoplasmosis

cutaneous mastocytosis

erdheim-chester disease

esophageal adenocarcinoma

esophageal squamous cell carcinoma

familial mediterranean fever

gm1 gangliosidosis

junctional epidermolysis bullosa

lamellar ichthyosis

monosomy 21

oligodontia

omenn syndrome

scrub typhus

severe combined immunodeficiency

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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