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)

The yeast SPT10 gene encodes a putative histone acetyltransferase that binds specifically to pairs of upstream activating sequence (UAS) elements found only in the histone gene promoters. Here, we demonstrate that the DNA-binding domain of Spt10p is located between residues 283 and 396 and includes a His(2)-Cys(2) zinc finger. The binding of Spt10p to the histone UAS is zinc-dependent and is disabled by a zinc finger mutation (C388S). The isolated DNA-binding domain binds to single histone UAS elements with high affinity. In contrast, full-length Spt10p binds with high affinity only to pairs of UAS elements with very strong positive cooperativity and is unable to bind to a single UAS element. This implies the presence of a "blocking" domain in full-length Spt10p, which forces it to search for a pair of UAS elements. Chromatin immunoprecipitation experiments indicate that, unlike wild-type Spt10p, the C388S protein does not bind to the promoter of the gene encoding histone H2A (HTA1) in vivo. The C388S mutant has a phenotype similar to that of the spt10Delta mutant: poor growth and global aberrations in gene expression. Thus, the C388S mutation disables the DNA-binding function of Spt10p in vitro and in vivo. The zinc finger of Spt10p is homologous to that of foamy virus integrase, perhaps suggesting that this integrase is also a sequence-specific DNA-binding protein.
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PMID:The DNA-binding domain of the yeast Spt10p activator includes a zinc finger that is homologous to foamy virus integrase. 1641 40

We report a case with Langerhans cell histiocytosis appearing as an extra-pleural tumor. A 20-year-old man was transferred to our hospital because of right chest pain and fever. His chest X-ray showed an extra-pleural mass and chest CT scan showed a mass lesion with right 7th rib fracture. 67Gallium and bone scintigram showed uptake at the same site. We performed a CT-guided puncture biopsy. Pathological findings of the specimen showed diffuse proliferation of histiocytoid cells with some eosinophils. The histiocytes were positive for S-100 protein and CD1a on immunohistochemical stain. Langerhans cell histiocytosis was diagnosed. There was no other involvement of the disease except the rib. The tumor resolved only with smoking cessation and no recurrence was observed during the follow-up period. An association between smoking and progressions of the rib disease was suggested.
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PMID:[A case of Langerhans cell histiocytosis which resolved only on smoking cessation]. 1650 66

We present a 22-year-old male diagnosed with pro T-acute lymphoblastic leukemia (ALL). His laboratory test showed 181,900/microL of WBC complicated with lymphoadenopathy, pleural effusion, pericardial effusion and hepatosplenomegaly at the onset. Flow cytometry analysis of the leukemic cells showed cCD3+, CD7+, CD2+, CD1a-, CD3-, CD5-, CD4-, CD8-, CD34+, and HLA-DR+ as a pro T-cell phenotype. The patient was treated with induction therapy followed by 3 courses of consolidation therapy and achieved his first complete remission. He underwent up-front stem cell transplantation (SCT) from an HLA-full matched sibling, with early relapse just before transplantation. The conditioning regimen consisted of fludarabine (100 mg/m2) and melphalan (180 mg/m2). He relapsed with an extramedullary mass (gingival, testis, and femoral muscles) 1 year after transplantation. Since bone marrow involvement was not apparent, he received involved field radiation therapy (25.2 Gy/14 frequencies) in each mass. Six months after extramedullary relapse, bone marrow relapse occurred, and the patient died of sepsis due to Pseudomonas aeruginosa during re-induction therapies. Based on the immature T cell phenotype frequently with myeloid markers, a graft-versus- leukemic effect might be expected after allogeneic SCT for Pro T-ALL and a positive indication of SCT for this disease should be considered.
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PMID:[Limited but potential efficacy by graft-versus-leukemia (GVL) for Pro T-ALL]. 1901 41

A 50-year-old man presented with an asymptomatic, 1.5 x 1.5 cm, dark-brown noduloplaque with a rubbery consistency (Fig. 1) on the lateral aspect of the left lower leg of uncertain duration. His general condition was healthy, and he did not recall any trauma or insect bite at this site. No similar skin lesions were found elsewhere and no lymphadenopathy was observed. The lesion revealed a nonencapsulated, but well-circumscribed, deep dermal nodule with several lymphoid aggregates and germinal center-like structures within the tumor and also at the periphery, when examined microscopically at scanning power (Fig. 2a). The epidermis showed no remarkable changes, except for basal hyperpigmentation. At higher power, a mixed inflammatory infiltrate composed of histiocytes, foamy histiocytes (Fig. 2b), lymphocytes, and abundant plasma cells (Fig. 2c) with Russell bodies was revealed. The stroma contained mainly hyalinized and sclerotic collagen fibers (Fig. 2d). Prominent venules were noted, especially in the sclerotic areas, and some were surrounded by dense collagen fibers. No vasculitis or emperipolesis was found. No foreign materials were observed by polarization microscopy, and no organisms could be identified by periodic acid-Schiff (PAS), Grocott methenamine silver (GMS), Giemsa, Gram, acid-fast, or fite stains. The results of testing for infection by Epstein-Barr virus (EBV) (latent membrane protein 1, LMP-1) were negative. No spindle cells were found in the lesion. Immunohistochemical studies demonstrated mature plasma cells stained with CD138, and polyclonality was confirmed by the expression of both kappa and lambda light chains. The germinal center-like lymphoid aggregates were found to be B cells, which reacted positively with CD20. Scarce S100-positive cells and even rarer CD1a-positive cells were detected. Test results for smooth muscle actin (SMA) and anaplastic lymphoma kinase (ALK) were negative. Abundant CD68+ macrophages were observed within the lesion (Fig. 3a), and about 50-75% of the inflammatory cells were found to express cyclooxygenase-2 (COX-2) (Fig. 3b). The patient's condition was diagnosed as cutaneous plasma cell granuloma (CPCG). One year after excision, no evidence of recurrence was observed.
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PMID:Cutaneous plasma cell granuloma: report of a case with novel histologic and immunohistochemical findings. 1933 29

Erdheim-Chester disease is a rare non-Langerhans form of histiocytosis with multiple organ involvement. Approximately 20% of patients have xanthoma-like lesions, usually on the eyelids. We report a case of Erdheim-Chester disease in a 32-year-old male who showed peculiar xanthomatous skin lesions and also had atopic dermatitis. His skin manifestations included ring-like yellowish tumors on his periorbital regions, rope necklace-like tumors on his neck, and spindle-shaped tumors on his right preauricular region and cubital fossas. He also had exophthalmos and diabetes insipidus. Chronic eczematous lesions were present on the flexor aspect of his extremities, and his serum eosinophil numbers and immunoglobulin E levels were elevated. A histological examination of his right neck tumor showed foamy macrophages and touton-type giant cells, which were positive for CD68 and CD163 and negative for S-100 and CD1a. We suggest that the complication of atopic dermatitis may have contributed to the uncommon clinical features in this case.
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PMID:Peculiar distribution of tumorous xanthomas in an adult case of erdheim-chester disease complicated by atopic dermatitis. 2167 88

Hemangiopericytoma (HPC) is a rare tumor of the central nervous system, most commonly found in the cranial cavity. HPCs in the spine are rare, and very few of them are primary osseous HPC. The aims of this study were to describe a rare case of primary osseous HPC in the thoracic spine and review the literature. A 54-year-old man presented with a 3-month history of back pain. Aneuro logical examination revealed no motor or sensory deficits. Magnetic resonance imaging (MRI) and computed tomography (CT) scan showed a tumor originating from the bone structure of the T10 vertebra with paravertebral extension, and chest CT revealed pulmonary metastases. A laminectomy, face-totomy,and subtotal resection of the tumor was performed with posterior pedicle screw system fixation followed by radiotherapy. The post-operative course was uneventful. His back pain was resolved completely after surgery. The patient survived with tumor during the 18-month follow-up period. Histopathology and immunohistologic findings were consistent with HPC. On immunohistochemistry, the tumor was positive for vimentin and CD34, partially positive for S-100, but negative for EMA, desmin, CD117, and CD1a. A literature review identified eight such cases reported between 1942 and 2013. As a conclusion, clinical manifestations of primary osseous spinal HPCs are different from intraspinal meningeal HPCs. Although showing certain variability, histopathology and immunohistochemical examinations are essential to establish the diagnosis. Surgical resection and radiotherapy are the treatment of choice. *These authors contributed equally to this work.
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PMID:Primary osseous hemangiopericytoma in the thoracic spine. 2488

Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare benign disorder usually characterized by massive painless cervical lymphadenopathy and systemic manifestations. Extranodal involvement, especially spinal involvement, is extremely rare. We report a 41-year-old man who presented with only intermittent dorsodynia. His condition was diagnosed as non-specific inflammatory disease on the basis of preoperative puncture biopsy results. We performed total surgical resection. Histopathological findings showed distinctive emperipolesis and immunohistochemistry results were positive for cluster of differentiation CD68 and S100 and negative for CD1a. A good prognosis was confirmed at the 3-month follow-up visit. This is the first case of RDD of the subdural spine with such a long segment lesion. There is still no consensus regarding appropriate therapy for this type of RDD and the preoperative diagnosis remains challenging. The unusual presentation of our case serves as a reference when diagnosing and treating RDD.
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PMID:Rosai-Dorfman disease of the subdural spine with a long segment lesion: A case report and literature review. 2817 21

Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis that affects multiple body organs, notably the skeletal system. We examined a 58-year-old man who presented with ataxia and T2 hyperintensity of the middle cerebellar peduncles and dentate nuclei without contrast enhancement on MRI brain. Workup for malignancy revealed "hairy kidneys" on CT scan of the abdomen, and excisional biopsy of the retroperitoneal mass for concerns of lymphoma revealed foamy histiocytes that tested positive for CD68 and negative for CD1a, confirming the diagnosis of ECD. Further genetic testing on excised tissue revealed BRAF (V600E) gene mutation that is present in 50% of ECD patients. Treatment was initiated with targeted therapy using the BRAF inhibitor Dabrafenib. X-ray of the lower extremities did not reveal sclerosis of the long bones, and bone scan with technetium 99 was negative except for a nonspecific tracer uptake in left calvarial bone with no corresponding CT changes or T1/T2 signal changes on MRI. His MRI brain revealed classic cerebellar involvement in ECD without other central nervous system (CNS) involvement. It has been postulated that bone involvement is almost universal in ECD; however, our patient with ECD had ataxia and cerebellar involvement without significant bone involvement, as evidenced by bone scan. This is a rare presentation of ECD affecting the CNS and sparing the skeletal system. It confirms the wide spectrum of presentation this multisystem disease can have.
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PMID:Neurohistiocytosis of the Cerebellum: A Rare Cause of Ataxia. 3036 24