Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.

Joshi, Avni Y; Ham, Erin K; Shah, Neel B; Dong, Xiangyang; Khan, Shakila P; Abraham, Roshini S

Joshi, Avni Y; Ham, Erin K; Shah, Neel B; Dong, Xiangyang; Khan, Shakila P; Abraham, Roshini S.

Afiliação

Joshi AY; Division of Pediatric and Adult Allergy and Immunology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA ; Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Ham EK; Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Shah NB; Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Dong X; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Khan SP; Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Abraham RS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

Case Reports Immunol ; 2012: 919241, 2012.

Article em En | MEDLINE | ID: mdl-25954555

ABSTRACT

ABSTRACT

We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56(bright)CD16- cytokine-producing NK cells after treatment with steroids for skin rash.

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Case Reports Immunol Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Estados Unidos

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