Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Periodic fever can be defined as recurrent episodes of fever lasting from a few days to several weeks separated by symptom-free intervals of variable duration, recurring throughout several months. Although these clinical pictures are unusual in clinical practice, in some instances the differential diagnosis with recurrent infections, malignancies and connective tissue diseases is difficult. The aim of this review is to group together these different clinical pictures, which are dispersed in the literature, to obtain an overall and detailed perspective.We classified these processes in two categories: hereditary (familial Mediterranean fever, hyper-IgD syndrome, tumor necrosis factor-receptor-associated periodic syndrome, Muckle-Wells syndrome and familial cold urticaria) and non-hereditary (periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA syndrome], cyclic neutropenia, chronic infantile neurological cutaneous and articular syndrome [CINCA syndrome], Castleman's disease, early onset sarcoidosis and Blau syndrome). Although diagnosis is essentially clinical, in recent years many advances have been made in the knowledge of the molecular and genetic bases of hereditary diseases, which may be of considerable help in establishing the diagnosis and improving treatment.
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PMID:[Periodic fever]. 1239 68

Kikuchi-Fujimoto's disease (KFD) or histiocytic necrotizing lymphadenitis is a self-limiting condition characterized by fever, neutropenia and lymphadenopathy. It is rarely associated with systemic lupus erythematosus (SLE). The authors reported a case of Kikuchi's necrotizing lymphadenitis who presented with fever, generalized lymphadenopathy, moderate leukopenia, polyarthritis, vasculitis-like lesions and oral ulcers compatible with SLE but serologic tests for autoimmune disease were all negative. The clinical symptoms resolved spontaneously within 3 months without any treatment. Because there is an association between KFD and SLE, great care should be taken with a patient who presents with either KFD or SLE.
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PMID:Kikuchi-Fujimoto's disease, histiocytic necrotizing lymphadenitis, mimicking systemic lupus erythematosus. 1245 85

A new symptom-complex is described characterized by manifestations of autoimmune disease, infectious lymphadenopathy, double negative T cells, and impaired activation-induced cell death that developed in late adolescence. Similarities, but also significant differences, to autoimmune lymphoproliferative syndromes (ALPS, Canale-Smith syndrome) and autoimmune lymphoproliferative disease (ALD, Dianzani syndrome), were observed. The main clinical features were recurrent bacterial infections with subsequent lymphadenopathy due to autoimmune neutropenia. Laboratory results revealed a large proportion of alphabetaTCR positive, CD4 negative, CD8 negative, peripheral T cells, and a decreased apoptosis upon activation with phytohemagglutinin and interleukin 2, but normal Fas-mediated apoptosis. Genetic investigations excluded mutations in Fas gene death domain and in the 4 exons of Fas ligand gene. Despite unknown pathogenesis, this new syndrome might belong to the growing group of diseases with defects in apoptosis.
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PMID:A new disorder of lymphocyte apoptosis: combination of autoimmunity, infectious lymphadenopathy, double negative T cells, and impaired activation-induced cell death. 1260 26

A 14-year-old girl was admitted because of general fatigue and cervical lymphadenopathy. She showed bilateral struma (IInd degree) and enlargement of her left cervical lymph nodes. Laboratory data revealed neutropenia (219/microliter) and thrombocytopenia (Plt 5.1 x 10(4)/microliter) with mild anemia (Hb 11.1 g/dl), and the bone marrow aspirate and biopsy specimens showed hypocellularity. In addition, auto-antibodies against thyroid peroxidase (TPO) and thyroglobulin (TG) were highly elevated. Computed tomography of the neck showed a nodule in the left thyroid lobe with marked lymphadenopathy, and fine needle aspiration biopsy demonstrated papillary thyroid carcinoma with Hashimoto's thyroiditis and metastasis to the lymph nodes. One month after left thyroid lobectomy and cervical lymphadenectomy, the patient's condition progressed to very severe aplastic anemia, and she received immunosuppressive therapy consisting of cyclosporin A and anti-thymocyte globulin. Hematologically, partial and complete responses were obtained three and six months later, respectively. Of interest, anti-TPO and TG antibody titers remarkably decreased after immunosuppressive therapy. The patient had HLA-DR 2(DRB 1*1501) and DR 8(DRB 1*0802). The former is frequently found in patients with cyclosporin A-dependent aplastic anemia, and the latter is frequently found in Asian patients with Hashimoto's thyroiditis, suggesting an underlying autoimmune background for the simultaneous outbreak of aplastic anemia and Hashimoto's thyroiditis complicated by thyroid carcinoma.
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PMID:[Development of severe aplastic anemia in a girl with Hashimoto's thyroiditis and papillary thyroid carcinoma]. 1282 8

A case of hairy cell leukaemia (HCL), a rare leukaemia, is reported here. The patient was presented with high grade continuous fever with left upper abdominal discomfort for 6 days. He was moderately anaemic, had no peripheral lymphadenopathy with mild hepatosplenomegaly. He was anaemic (Hb-7.8 gm/dl), total leukocyte count was 20 x 109/L. Peripheral blood film showed lymphocytosis (92%) with neutropenia (8%) and absolute neutophil count (ANC) was 1 x 109/L. On review, 88% of the peripheral cells had peripheral hairy projections resembling hairy cell (HC). Bone marrow examination was consistent with HCL (morrow hairy cell = 52%) including marker studies. Tartrate resistant acid phosphatase test (TRAP) was also positive. He had opportunistic mycobecterial infection giving a positive bronchial lavage for acid fast bacilli. After controlling the infection he was advised a single dose chemotherapy of 2-chlorodeoxyadenosine (2-CDA). After that he was in partial remission and after 25 months clinical and pathological relapses occurred and a second dose of 2-CDA was given and the patient went into complete remission.
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PMID:Hairy cell leukaemia with advanced treatment - a case report. 1289 49

Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasia, cancer susceptibility and variable humoral and cellular immunodeficiency. We describe a patient with AT presenting with autoimmune haemolytic anaemia, neutropenia, hepatosplenomegaly, lymphadenopathy and hyper-IgM at the age of 6 months. At the age of 26 months she developed persistent fever, progressive lymphadenopathy and pulmonary nodular infiltrates, which were responsive to steroid therapy.
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PMID:Unusual and severe disease course in a child with ataxia-telangiectasia. 1291 15

Felty's syndrome (FS) comprises a triad of rheumatoid arthritis (RA), neutropenia and splenomegaly, occurring in less than 1% of RA patients. Clinically it is characterized by severe joint destruction contrasting with moderate or absent joint inflammation and severe extra-articular disease, including a high frequency of rheumatoid nodules, lymphadenopathy, hepatopathy, vasculitis, leg ulcers, skin pigmentation etc. Recurrent bacterial infections are mostly due to the severe, otherwise unexplained neutropenia. The cause of neutropenia lies in both decreased granulopoiesis and increased peripheral destruction of granulocytes. Recurrent infections may lead to increased mortality. Spontaneous remission of the syndrome also occurs. Over 95% of FS patients are positive for rheumatoid factor (RF), 47-100% are positive for antinuclear antibody (ANA), and 78% of patients have the HLA-DR4*0401 antigen. Some 30% of FS patients have large granular lymphocyte (LGL) expansion. LGL expansion associated with uncomplicated RA is immunogenetically and phenotypically very similar to but clinically different from FS. Neutropenia of FS can be effectively treated with disease-modifying anti-rheumatic drugs (DMARDs), the widest experience being with methotrexate (MTX). Results of treatment with granulocyte colony-stimulating factor (G-CSF) are encouraging, but there is no experience with other biological agents. Splenectomy results in immediate improvement of neutropenia in 80% of the patients, but the rate of infection decreases to a lesser degree.
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PMID:Felty's syndrome. 1545 23

Anorexia nervosa is a chronic psychiatric process characterized by a restrictive disorder in alimentary habits. Hematologic alterations in the peripheral blood include cytopenias involving one or more hematopoietic lineages. Morphologic changes in the bone marrow and stereologic alterations in bone marrow adiopocytes may also be observed in anorexia nervosa. We present a 12-year-old girl who had chronic anorexia and one third of body weight loss during an 8-month period. She was apathetic and had missed several menstrual cycles. The sex maturity rating was Tanner stage IV. There was no lymphadenopathy, no hepatosplenomegaly, and no identifiable tumor mass. She was not anemic, but was found to have leukopenia, neutropenia and a low level of triiodothyronine. Sections of the bone marrow biopsy showed almost complete serous atrophy (gelatinous degeneration) of the bone marrow. In this patient, the bone marrow alteration is related to nutritional deprivation of anorexia nervosa.
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PMID:Gelatinous degeneration of the bone marrow in anorexia nervosa. 1579 62

Kikuchi's disease is a clinico-pathologic entity of unknown etiology characterized by subacute inflammatory process of lymph nodes. It affects mostly women around the age of 30 years. It is usually a self limiting illness characterized by pyrexia, neutropenia, and cervical lymphadenopathy. We report a case of Kikuchi's disease in a patient with past history of splenectomy. A 35-year-old otherwise healthy female patient presented with 15 days history of fever, night sweats, and right cervical lymphadenopathy. She was on no medication and had no contact with animals or patients with tuberculosis. Her past history revealed splenectomy for thrombocytopenia 14 years before presentation. Lymphoma was suspected and she was referred for a cervical lymph node biopsy. The final histopathology diagnosis revealed subacute necrotizing lymphadenitis consistent with Kikuchi's disease. This is the first case of Kikuchi's disease presenting in a post splenectomy patient.
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PMID:An unusual association between splenectomy and Kikuchi's disease. 1598 91

This report describes the case of a 16 year old girl with a history of high fever, prolonged fatigue, and cervical lymphadenopathy of the right side. In addition, the patient showed neutropenia, thrombopenia, and pronounced reticulopenia. Cervical ultrasound showed unilateral hypoechoic lymph nodes up to 23 mm in diameter suspicious for malignant lymphoma. Histology of a cervical lymph node specimen revealed massive nodular histiocytic proliferation and prominent apoptosis without necrosis. Parvovirus B19 was detected by polymerase chain reaction and immunohistochemistry in the lymph node. In summary, this case is an unusual presentation of parvovirus B19 infection. The virus was identified as the potential causative agent of unilateral cervical lymphoma and apoptotic sinus histocytosis, thus broadening the clinicopathological spectrum of parvovirus B19 induced diseases.
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PMID:Parvovirus B19 infection associated with unilateral cervical lymphadenopathy, apoptotic sinus histiocytosis, and prolonged fatigue. 1604 92


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