title: Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
abstract: OS has been described as a clinical phenotype in infants characterized by SCID, diffuse erythroderma, and other distinct features. The pathogenesis is secondary to autologous, auto-reactive T cells produced as rare escapees from the SCID blockade. Mutations in either the RAG1 or RAG2 gene that lead to partial recombinase activity are responsible for many of the patients with these clinical features. We report on two patients, one with an atypical phenotype of OS (absence of rash but presence of other typical features) who harbored a previously undescribed mutation in RAG1, and a second who had many of the classic features of OS but was found to have a mutation in the common gamma chain (gamma(c)) cytokine receptor gene. These cases highlight the clinical and genetic heterogeneity of OS.
authors.affiliation: Divisions of Hematology and Oncology, Children's Hospital Los Angeles, 4650 Sunset Blvd., Los Angeles, CA 90027, USA.
authors.forename: Tanja A
authors.initials: TA
authors.lastname: Gruber
authors.forename: Ami J
authors.initials: AJ
authors.lastname: Shah
authors.forename: Michelle
authors.initials: M
authors.lastname: Hernandez
authors.forename: Gay M
authors.initials: GM
authors.lastname: Crooks
authors.forename: Hisham
authors.initials: H
authors.lastname: Abdel-Azim
authors.forename: Sudhir
authors.initials: S
authors.lastname: Gupta
authors.forename: Sean
authors.initials: S
authors.lastname: McKnight
authors.forename: Drew
authors.initials: D
authors.lastname: White
authors.forename: Neena
authors.initials: N
authors.lastname: Kapoor
authors.forename: Donald B
authors.initials: DB
authors.lastname: Kohn
mesh_terms: D016207:Cytokines / Q000235:genetics; D005076:Exanthema / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D007223:Infant; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D013601:T-Lymphocytes / Q000378:metabolism; D013997:Time Factors; D016896:Treatment Outcome; D045567:VDJ Recombinases / Q000235:genetics
chemical_list: D016207:Cytokines; D018398:Homeodomain Proteins; C064658:RAG-1 protein; D045567:VDJ Recombinases