Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.

Sadeghi, Payman; Esslami, Golnaz Ghazizadeh; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Mohsenipour, Reihaneh

Sadeghi, Payman; Esslami, Golnaz Ghazizadeh; Rokni-Zadeh, Hassan; Changi-Ashtiani, Majid; Mohsenipour, Reihaneh.

Afiliação

Sadeghi P; Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.
Esslami GG; Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
Rokni-Zadeh H; Pediatric Rheumatology Society of Iran, Tehran, Iran.
Changi-Ashtiani M; Department of Emergency, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Mohsenipour R; Departments of Newborn Nursery, Neonates and Pediatrics, Ziaeian Hospital, Tehran University of Medical Sciences, Tehran, Iran.

BMC Pediatr ; 22(1): 667, 2022 11 19.

Article em En | MEDLINE | ID: mdl-36401200

Assuntos

Linfo-Histiocitose Hemofagocítica; Masculino; Humanos; Feminino; Recém-Nascido; Lactente; Linfo-Histiocitose Hemofagocítica/diagnóstico; Linfo-Histiocitose Hemofagocítica/genética; Mutação; Homozigoto; Triglicerídeos; Ferritinas; Proteínas de Membrana/genética

Palavras-chave

Case report; FHL (familial Hemophagocytic lymphohistiocytosis); HLH (Hemophagocytic lymphohistiocytosis); UNC13D

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Linfo-Histiocitose Hemofagocítica Tipo de estudo: Diagnostic_studies / Guideline Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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