1.
J Pediatr
; 148(3): 396-8, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16615976
RESUMO
We report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease.
Assuntos
Afibrinogenemia/genética , Fibrinogênio/genética , Fibrinogênio/metabolismo , Fígado/metabolismo , Mutação , Alanina Transaminase/sangue , Aspartato Aminotransferases/sangue , Criança , Consanguinidade , Humanos , Masculino , Tempo de Tromboplastina Parcial , Tempo de Protrombina , gama-Glutamiltransferase/sangue
2.
J Pediatr
; 148(3): 404-6, 2006 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16615979
RESUMO
HyperIgM syndrome is a heterogenous immunodeficiency characterized by impaired class-switch recombination due to different molecular abnormalities. We report on two female patients affected by a novel syndrome associating HIGM, growth and pubertal disturbances, and severe lymphoid hyperplasia with eventual development into lymphomas, suggesting a DNA repair defect.