Rare Diseases Symptoms Automatic Extraction

Omenn's syndrome occurring in patients without mutations in recombination activating genes.

[omenn syndrome]

Omenn syndrome (OS) is characterised by hepatosplenomegaly, lymphadenopathy, erythema, eosinophilia, elevated IgE, oligoclonal T cell expansions and recombinase activating gene (RAG) mutations. We investigated 9 cases of OS to correlate genotype with immunophenotype using a two-color flow cytometry with monoclonal antibodies against CD3 and TCRVB families to map TCRVB usage. T and B clonal cell populations were examined in peripheral blood lymphocytes by PCR and sequencing of TCRB/TCRG T cell and IGH FR2/FR3 B cell products. RAG and Artemis genes were sequenced from genomic DNA. All patients demonstrated absent TCRVB families; six had predominant TCRVB families, six oligoclonal TCR gene rearrangements including TCRGD rearrangements. One demonstrated functional IGH rearrangement, an observation not previously reported. In this clinically homogeneous population, with similar immunological phenotype, RAG mutations were identified in only 2/9 patients. OS is a genetically heterogeneous condition, and patients with similar immunophenotypes may have as yet unidentified gene defects.

Diseases presenting "hepatosplenomegaly" symptom

  • alpha-thalassemia
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • gm1 gangliosidosis
  • homocystinuria without methylmalonic aciduria
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • severe combined immunodeficiency
  • waldenström macroglobulinemia
  • zellweger syndrome

This symptom has already been validated