Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C.

Sundin, Mikael; Uhlin, Michael; Gaballa, Ahmed; Ramme, Kim; Kolios, Antonios Ga; Marits, Per; Nilsson, Jakob

Sundin, Mikael; Uhlin, Michael; Gaballa, Ahmed; Ramme, Kim; Kolios, Antonios Ga; Marits, Per; Nilsson, Jakob.

Afiliação

Sundin M; The Astrid Lindgren Children's Hospital, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
Uhlin M; Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
Gaballa A; Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
Ramme K; The Astrid Lindgren Children's Hospital, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
Kolios AG; Department of Immunology, University Hospital Zurich, Switzerland.
Marits P; Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.
Nilsson J; Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Huddinge, Sweden.

Pediatr Allergy Immunol ; 29(1): 108-111, 2018 02.

Article em En | MEDLINE | ID: mdl-28981982

Assuntos

Endonucleases/genética; Proteínas Nucleares/genética; Imunodeficiência Combinada Severa/genética; Pré-Escolar; Proteínas de Ligação a DNA; Transplante de Células-Tronco Hematopoéticas/métodos; Humanos; Masculino; Mutação de Sentido Incorreto; Imunodeficiência Combinada Severa/diagnóstico; Imunodeficiência Combinada Severa/terapia

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Imunodeficiência Combinada Severa / Endonucleases Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google