Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency-Reference-Cited by-同舟云学术

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

Published:2012 Issue: Volume:2012 Page:1-4
ISSN:2090-6609
Container-title:Case Reports in Immunology
language:en
Short-container-title:Case Reports in Immunology

Author:

Joshi Avni Y.¹²,Ham Erin K.²,Shah Neel B.³,Dong Xiangyang⁴,Khan Shakila P.⁵,Abraham Roshini S.⁴

Affiliation:

1. Division of Pediatric and Adult Allergy and Immunology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA

2. Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA

3. Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA

4. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA

5. Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA

Abstract

We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in theADAgene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash.

Publisher

Hindawi Limited

Subject

Immunology,Immunology and Allergy

Link

http://downloads.hindawi.com/journals/crii/2012/919241.pdf

Reference10 articles.

1. Familial Reticuloendotheliosis with Eosinophilia

2. Omenn Syndrome—Review of Several Phenotypes of Omenn Syndrome and RAG1/RAG2 Mutations in Japan

3. Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

4. Engrafted maternal T cells in a severe combined immunodeficiency patient express T-cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity

5. Chimerism analysis by sex determining region Y (SRY) and major histocompatibility complex markers in non-human primates using quantitative real-time polymerase chain reaction

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