Diagnosis of HLH: two siblings, two distinct genetic causes.

Escaron, Claire; Ralph, Elizabeth; Bibi, Shahnaz; Visser, Johannes; Aricò, Maurizio; Rao, Kanchan; Veys, Paul; Gilmour, Kimberly

Escaron, Claire; Ralph, Elizabeth; Bibi, Shahnaz; Visser, Johannes; Aricò, Maurizio; Rao, Kanchan; Veys, Paul; Gilmour, Kimberly.

Afiliação

Escaron C; Immunology Laboratory, Great Ormond Street Hospital, London, UK.
Ralph E; Immunology Laboratory, Great Ormond Street Hospital, London, UK.
Bibi S; Genetics Laboratory, Great Ormond Street Hospital, London, UK.
Visser J; Department of Paediatric Oncology, Addenbrookes Hospital, Cambridge University Hospitals, Cambridge, UK.
Aricò M; Azienda Ospedaliero-Universitaria Consorziale Policlinico Bari, Children Hospital 13 Giovanni XXIII, Bari, Italy.
Rao K; Department of Bone Marrow Transplant, Great Ormond Street Hospital for Children, London, UK.
Veys P; Department of Bone Marrow Transplant, Great Ormond Street Hospital for Children, London, UK.
Gilmour K; Immunology Laboratory, Great Ormond Street Hospital, London, UK.

Clin Exp Immunol ; 207(2): 205-207, 2022 04 04.

Article em En | MEDLINE | ID: mdl-35020838

ABSTRACT

ABSTRACT

This report highlights case of two siblings who developed haemophagocytic lymphohystiocytosis due to distinct genetic abnormalities. Though their presentation was clinically similar, the cases demonstrate that a shared genetic diagnosis among siblings cannot be assumed.

Assuntos

Linfo-Histiocitose Hemofagocítica; Humanos; Linfo-Histiocitose Hemofagocítica/diagnóstico; Linfo-Histiocitose Hemofagocítica/genética; Irmãos

Palavras-chave

X-linked lymphoproliferative syndrome; genetic pedigree; haemophagocytic lymphohystiocytosis; molecular diagnostics; primary immunodeficiency

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Humans Idioma: En Revista: Clin Exp Immunol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

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