Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P06126 (CD1a)
 2,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile xanthogranuloma (JXG) is considered to represent a lesion originating from histiocytes. Three cases of deeply located JXG and one case of cutaneous JXG were studied. One case with extensive mesenteric involvement presented with hypercalcemia and one case with liver involvement had hypergammaglobulinemia. Immunohistochemistry, electron microscopy, karyotyping, and DNA flow cytometry were used to determine the phenotype of the cells involved and to find further clues as to the histogenesis of these lesions. Immunohistochemically, all lesions studied expressed the CD1a antigen but showed no labeling for S-100 protein. The cells did not contain Birbeck granules. From these data it is suggested that the cells involved are of indeterminate dermal histiocyte lineage and that occurrence of deep located lesions of JXG may be due to migration of CD1 a-positive histiocytes.
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PMID:Deep juvenile xanthogranuloma: a lesion related to dermal indeterminate cells. 137 72

T-cell leukemia/lymphoma (T-c LL) associated with prior infection with HTLV-I is rarely described in children. We present herein, the clinical, morphological, and virologic features of T-c LL, which occurred in eight pediatric cases with similar features of ATLL described in adults. There were three girls and five boys with age ranging from 2 to 18 years. Lymphoadenopathy, hepatosplenomegaly and marked skin lesions were presented in all cases. Five patients had hypercalcemia. The diagnostic criteria of T-c LL were based on both morphological and immunophenotypical analyses characterized by T-cell markers positively. Seven cases were cCD3+, CD4/CD25+, whereas CD1a and TdT were negative in all cases tested. HTLV-I antibodies were detected in all cases. HTLV-I provirus integration of at least one provirus was seen in all cases tested by molecular analysis. Mother-to-child transmission of HTLV-I was demonstrated in six cases. Interestingly, a homozygous deletion in p16 gene locus was observed in all four cases studied, while exons 7 and 8 of p53 were deleted in one child. The deletion of the p16(INK4A)/p14(ARF) or mutation of p53, key regulatory protein of cell cycle checkpoint in G1/S progression, found in five of the eight pediatric patients suggests that in these cases genetic lesions associated with HTLV-I infection may predispose for an early onset of leukemia.
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PMID:Genetic mutation and early onset of T-cell leukemia in pediatric patients infected at birth with HTLV-I. 1175 65

Juvenile xanthogranulomas (JXG) is a histiocytic disorder, primarily but not exclusively seen throughout the first two decades of life and principally as a solitary cutaneous lesion. This study is a retrospective clinical and pathologic review of 174 cases documenting the cutaneous and extracutaneous manifestations in patients presenting from the neonatal period to 20 years of age (mean 3.3 years; median 1 year). There was a male predominance (99 male:75 female) in all categories of clinical presentation, but especially notable in the group with multiple cutaneous lesions (12 male:1 female). A solitary cutaneous lesion accounted for 67% of all cases, followed by a solitary subcutaneous or deep soft tissue mass (28 cases, 16%), multiple cutaneous lesions (13 cases, 7%), a solitary extracutaneous, nonsoft tissue lesion (9 cases, 5%), and multiple cutaneous and visceral-systemic lesions (8 cases, 5%). The recorded deaths due to disease included two neonates with systemic JXG who developed hepatic failure and thrombocytopenia and at autopsy had giant cell-neonatal hepatitis in addition to JXG in the liver and other visceral sites. A third death in a 3-month-old boy with a retroperitoneal-pelvic JXG occurred after failure to control severe hypercalcemia. The characteristic Touton giant cell in variable numbers was a consistent feature of the cutaneous lesions; however, these cells were either absent or present in reduced numbers in the various extracutaneous lesions when compared with JXG in the skin. Spindle cells intermingled among the mononuclear cells or forming short fascicles were seen in both cutaneous and extracutaneous lesions. Immunohistochemistry was performed on all extracutaneous lesions, and the constituent cells, regardless of their individual morphologic features, were uniformly positive for vimentin, CD68, and factor XIIIa and negative for S-100 protein and CD1a. It is widely held that JXG is a proliferative disorder of dendrocytes, possibly dermal dendrocytes; thus, its clinical and pathologic similarities to Langerhans cell histiocytosis are not entirely unexpected in light of the most recently proposed international classification of histiocytic disorders, which includes JXG and Langerhans cell histiocytosis together as "dendritic cell-related" histiocytoses.
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PMID:Juvenile xanthogranulomas in the first two decades of life: a clinicopathologic study of 174 cases with cutaneous and extracutaneous manifestations. 1271 44

Adult T-cell leukemia/lymphoma (ATLL) is a peripheral T-cell neoplasm caused by human T-cell lymphotropic virus type I (HTLV-I). The neoplastic cells are highly pleomorphic and are usually CD4+ and CD8- phenotypically. We reported the case of a 46-year-old woman presenting with fever, abdominal distention, lymphadenopathy, leukocytosis and hypercalcemia. Nodal biopsy showed diffuse infiltration by monomorphic small to medium-sized atypical lymphocytes expressing CD3, CD25, CD30 and CD99, but not CD1a, CD4, CD8, CD34, terminal deoxynucleotidyl transferase or ALK. An initial diagnosis of T-lymphoblastic leukemia/lymphoma was made based on cytomorphology, CD4 and CD8 double negativity, and the expression of CD99. The diagnosis was later revised to ATLL based on the positive serology study for anti-HTLV I/II antibody and confirmation by the clonal integration of HTLV-I proviral DNA into the tumor tissues by Southern blotting analysis. The patient had a stage IVB disease and died of septic shock after 2 courses of chemotherapy 3 months after diagnosis. Immunohistochemical staining for CD99 in archival ATLL tissues showed a positive rate of 67% (4 of 6 tumors). Our case showed that ATLL with atypical morphology and immunophenotype in HTLV non-endemic areas might pose a diagnostic challenge and CD99 expression is frequent in ATLL.
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PMID:CD4 and CD8 double-negative adult T-cell leukemia/lymphoma with monomorphic cells expressing CD99: a diagnostic challenge in a country non-endemic for human T-cell leukemia virus. 2346 72