X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis.
Pediatr Hematol Oncol
; 34(8): 428-434, 2017 Nov.
Article
em En
| MEDLINE
| ID: mdl-29303623
ABSTRACT
X-linked hyper-immunoglobulin M (IgM) syndrome is characterized by recurrent infections, low or undetectable levels of IgG and IgA, and normal to increased serum IgM, and is also rare. It is associated with mutation in the gene encoding CD40 ligand. This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohn's disease and hemophagocytic lymphohistiocytosis. Also, the clinical implications of this mutation and associated atypical phenotype are discussed.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Doença de Crohn
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Mutação Puntual
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Ligante de CD40
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Linfo-Histiocitose Hemofagocítica
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Síndrome de Imunodeficiência com Hiper-IgM Tipo 1
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
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NEOPLASIAS
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PEDIATRIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
China