ABSTRACT
Chediak-Higashi Syndrome is a rare inherited autosomal recessive disorder of immune system. Susceptibility to infection due to phagocyte dysfunction ranges from recurrent skin infection to over whelming fatal systemic infection. A three year old boy presented by dark skin all over the body except tiny areas of hypopigmentation. He suffered from repeated attacks of fever, cough, bloody diarrhea. On examination there was severe pallor, grey silver hair, generalized lymphadenopathy and hepatosplenomegaly. His investigations showed pancytopenia and giant lysosomal granules in the cytoplasm of neutrophils and lymphocytes. He received antibiotics for several times but in last episode he looked terminally ill and his parents refused medical advice for admission and took him to home
Subject(s)
Humans , Male , Chediak-Higashi Syndrome/genetics , Lymphatic Diseases/genetics , Pancytopenia/diagnosis , ChildABSTRACT
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.
Subject(s)
Alopecia/genetics , DNA-Binding Proteins/genetics , Dermatitis, Exfoliative/genetics , Female , Gene Rearrangement, T-Lymphocyte , Hepatomegaly/genetics , Heterozygote , Homeodomain Proteins/genetics , Humans , Infant , Lymphatic Diseases/genetics , Morocco , Mutation/genetics , Nuclear Proteins/genetics , Severe Combined Immunodeficiency/diagnosis , Splenomegaly/genetics , SyndromeABSTRACT
Peripheral T cell lymphoma encompasses lymphomas with a variety of histologic appearances and clinical patterns. Recently, it has been suggested that almost all of the histologic features described under the name of polymorphic reticulosis(PR), lethal midline granuloma, and midline malignant reticulosis can be included in those generally described for malignant lymphomas of peripheral T cell origin(PTCL). There have been few studies of pathogenesis or tissue damage mechanism in PR patients. The need for a precise mechanism for tissue damage has important therapeutic implications. Using immunohistochemical methods with polyclonal anti IL-6 antibody, the authors describe 5 cases of PR with clinically and pathologically typical PR demonstrating a high expression of IL-6. According to classification, 2 cases of grade 1 PR showed the highest expressions, and 2 cases of grade 2 PR with atypical lymphoid cells showed moderate activity, but one case progressed into frank lymphoma(grade 3) and lost IL-6 expression. This strongly implies that some cases of PR have a different mechanism of tissue damage from frank PTCL, despite the one disease spectrum. Further studies on more cases may help clarify the pathogenesis.