RESUMO
Omenn syndrome is a form of severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. Inherited hypomorphic mutations in the recombination activating genes 1 and 2 (RAG1 and RAG2) and in ARTEMIS genes and more recently defects in IL7RA, and RMRP genes have been described to be responsible of this peculiar immunodeficiency. The authors report here a Moroccan patient of four-months-old with classical features of Omenn syndrome, carrying a deletion at the N terminal part of RAG1. Early recognition of this condition is important for genetic counseling and early treatment.
Assuntos
Alopecia/genética , Proteínas de Ligação a DNA/genética , Dermatite Esfoliativa/genética , Feminino , Rearranjo Gênico do Linfócito T , Hepatomegalia/genética , Heterozigoto , Proteínas de Homeodomínio/genética , Humanos , Lactente , Doenças Linfáticas/genética , Marrocos , Mutação/genética , Proteínas Nucleares/genética , Imunodeficiência Combinada Severa/diagnóstico , Esplenomegalia/genética , SíndromeRESUMO
Introdution: The Philadelphia chromosome was the first cytogenetic abnormality specific of malignant process. In 1960 Nowell and Hungerford associated this abnormality to the chronic myeloid leukemia. It's reciprocal translocation between the chromosome 9 [breakpoint: q34] and the 22 [breakpoint: q11]
Material and methods: We have searched the Ph1 chromosome with cytogenetic analysis at 170 patients affected by Chronic Myeloproliferative Disorders . Eighty nine patients were at the diagnosis step, six in acutisation, and seven in relapse, twelve in clinical remission. The evolutionary stage is unknown in the other cases
Results: The Ph1 chromosome: t [9;22][q34;q11] was found in 116 cases
Discussion: We discuss in this study, the interest of the Ph1 chromosome in order to confirm the diagnosis of chronic myeloid leukemia and to follow the patients under Interferon and imatinib [Glivec[*]]