title: Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn.
abstract: Omenn syndrome is an autosomal recessive form of "leaky" severe combined immune deficiency resulting in distinct phenotypic features. The patient described herein had an atypical presentation of Omenn syndrome, with conspicuous erythroderma and extreme lymphocytosis at birth, in contrast to the typical evolution of rash seen during the first few weeks of life. In addition, the skin findings were secondary to infiltration of CD8+(cytotoxic) T-cells in contrast to the CD4+(helper) T-cells typically seen, which broadens the Omenn syndrome phenotype.
authors.affiliation: Department of Pediatrics, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Rabia
authors.identifier: http://orcid.org/0000-0002-3515-7441
authors.initials: R
authors.lastname: Zafar
authors.affiliation: Division of Pediatric Allergy, Immunology & Pulmonary Medicine, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Aaron
authors.initials: A
authors.lastname: Ver Heul
authors.affiliation: Division of Pediatric Allergy, Immunology & Pulmonary Medicine, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Avraham
authors.initials: A
authors.lastname: Beigelman
authors.affiliation: Division of Pediatric Hematology and Oncology, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Jeffrey J
authors.initials: JJ
authors.lastname: Bednarski
authors.affiliation: Department of Pediatrics, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.|Division of Dermatology, Department of Medicine, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Bayliss
authors.affiliation: Department of Pathology and Immunology, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
authors.affiliation: Division of Dermatology, Department of Medicine, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.|Department of Pathology and Immunology, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Ilana S
authors.initials: IS
authors.lastname: Rosman
authors.affiliation: Division of Dermatology, Department of Medicine, School of Medicine, Washington University, School of Medicine, St. Louis, Missouri.
authors.forename: Carrie C
authors.initials: CC
authors.lastname: Coughlin
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D003873:Dermatitis, Exfoliative / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008218:Lymphocytosis / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics; D012867:Skin / Q000473:pathology*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064658:RAG-1 protein