Different phenotypes of the same XIAP mutation in a family: A case of XIAP deficiency with juvenile idiopathic arthritis.

Shabani, Mahsima; Razaghian, Anahita; Alimadadi, Hosein; Shiari, Reza; Shahrooei, Mohammad; Parvaneh, Nima

Shabani, Mahsima; Razaghian, Anahita; Alimadadi, Hosein; Shiari, Reza; Shahrooei, Mohammad; Parvaneh, Nima.

Afiliación

Shabani M; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Razaghian A; Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran.
Alimadadi H; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Shiari R; Department of Pediatric Gastroeneterology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Shahrooei M; Department of Pediatric Rheumatology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Parvaneh N; Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, Belgium.

Pediatr Blood Cancer ; 66(5): e27593, 2019 05.

Article en En | MEDLINE | ID: mdl-30604482

Asunto(s)

Artritis Juvenil/genética; Artritis Juvenil/patología; Mutación; Proteína Inhibidora de la Apoptosis Ligada a X/deficiencia; Proteína Inhibidora de la Apoptosis Ligada a X/genética; Preescolar; Familia; Femenino; Humanos; Lactante; Masculino; Fenotipo; Pronóstico

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artritis Juvenil / Proteína Inhibidora de la Apoptosis Ligada a X / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Pediatr Blood Cancer Asunto de la revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: Irán

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