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)

Achromobacter xylosoxidans is a gram-negative bacterium whose natural habitat has not been clearly defined. It has been isolated from ear discharge and the large intestine of humans and from various hospital or environmental water sources. Infection with A. xylosoxidans in humans has been documented, and resulting illnesses include meningitis, pneumonia, cholecystitis, peritonitis and urinary tract infection. Bacteremia due to A. xylosoxidans is rare, and little information on treatment is available. Two cases of bacteremia due to A. xylosoxidans in patients with hemapoietic malignancies are reported herein. Case 1 involved a 70-yr. male whose clinical diagnosis was IgA lambda-type plasmacytoma. Case 2 involved 72-yr. male whose clinical diagnosis was acute lymphatic leukemia (L2). Both patients had been catheterized. Neutropenia was noted and the white blood cell counts were 20/microliter in case 1 and 35/microliter in case 2 when A. xylosoxidans was isolated from the blood culture. We suggest that bacteremia due to A. xylosoxidans may have been related to the presence of the catheter and neutropenia.
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PMID:[Two cases of Achromobacter xylosoxidans sepsis]. 984 26

X-linked hyper-IgM syndrome (XHIM) is a severe congenital immunodeficiency caused by mutations in CD154 (CD40 ligand, gp39), the T cell ligand for CD40 on B cells. Chronic or cyclic neutropenia is a frequent complicating feature that heightens susceptibility to severe infections. We describe a patient with a variant of XHIM who produced elevated levels of serum IgA as well as IgM and suffered from chronic severe neutropenia. Eight of ten leukocyte transfusions with cells from a maternal aunt, performed because of mucosal infections, resulted in similar episodes of endogenous granulocyte production. Transfection studies with the mutant CD154 protein indicate that the protein is expressed at the cell surface and forms an aberrant trimer that does not interact with CD40. The data suggest that allogeneic cells from the patient's aunt, probably activated T cells bearing functional CD154, may interact with CD40+ recipient cells to produce maturation of myeloid precursors in the bone marrow.
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PMID:Leukocyte transfusion-associated granulocyte responses in a patient with X-linked hyper-IgM syndrome. 985 88

Hyper-IgM immunodeficiency (HIM) is an immunological disorder characterized by normal or elevated serum IgM levels, and reduced serum IgG and IgA levels, due to the disruption of immunoglobulin class switching in B cells. X-linked hyper-IgM is caused by the defective expression of the CD40 ligand on activated T cells, which induces immunoglobulin class switching along with some cytokines, such as interleukin 4, by the signal transduction of CD40 in B cells. We report on a Japanese girl who initially showed low serum IgM, IgG and IgA levels like patients with common variable immunodeficiency; however, in the course of time, serum IgG levels became reduced and serum IgM levels increased, resulting in the typical immunoglobulin profile of HIM. Neutropenia, one of the features of X-linked HIM, was not observed. In spite of extremely low serum IgG levels, she did not show any predisposition to severe infection, even without gammaglobulin replacement therapy. No mutation of the CD40 ligand or CD40 was detected. Sequencing of the complementarity-determining region of immunoglobulin heavy-chain genes in peripheral B lymphocytes revealed that they were all in frame, and insertion of the N region was detected. These results indicate that the heavy-chain gene rearrangement in the patient's B cells is intact. Non-X-linked HIM has heterogeneous pathogenetic mechanisms, and some groups may show the resistance to infection at the healthy donor level. The underlying defects in non-X-linked HIM might be specifically involved in class switching.
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PMID:Long-term study of a female hyper-IgM immunodeficiency. 1109 55

Hyper-IgM syndrome is a rare immunodeficiency disease characterized by markedly decreased serum IgG, IgA, and IgE levels but normal or elevated IgM levels. The most common clinical signs are infections, cirrhosis, arthritis, malignancies, and mucosal ulcers. Approximately two-thirds of patients have chronic neutropenia associated with oral and perirectal ulcers. We report a 14-month-old girl with hyper-IgM syndrome who has recurrent cutaneous ulcers restricted to the diaper area.
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PMID:An unusual presentation of immunodeficiency with hyper-IgM. 1120 72

This study describes the frequency of monoclonal gammopathy of undetermined significance (MGUS) and the changes in some inflammation-related serum proteins in 157 patients with nonimmune chronic idiopathic neutropenia syndrome (NI-CINS). Of these patients, 42 had pronounced neutropenia with neutrophil counts < 1500/microL, and 115 had mild neutropenia with neutrophil counts ranging from 1500 to 2499/microL. Sixty-six volunteers served as healthy control subjects and 157 age- and sex-matched patients hospitalized for nonmalignant diseases served as patient control subjects. We found that 28.6% of patients with pronounced neutropenia and 14.8% of patients with mild neutropenia had increased serum gamma globulins (above the 95% confidence limit of values of the control subjects). In the group of patients with pronounced neutropenia, 30.9% had increased immunoglobulin (Ig)G values and 23.8% had increased IgA values. In the group of patients with mild neutropenia, 17.4% had increased IgG values and 21.7% had increased IgA values. IgG and IgA values strongly correlated with the neutrophil count. No changes in serum IgM were found. Three of 42 patients with pronounced neutropenia (7.14%) and 3 of 115 patients with mild neutropenia (2.61%) had serum immunofixation tests which showed a small monoclonal spike--4 were IgG-kappa type, 1 was IgG-lambda type, and 1 was IgA-kappa type. None of the healthy or patient control subjects had any evidence of MGUS. No significant changes in the amount of monoclonal spikes were documented during an 18- to 143-month follow-up (median, 58 months). Except for significantly increased alpha1-antitrypsin levels, there were no significant differences in the levels of acute-phase proteins studied between the study patients and the control subjects. These findings are consistent with our previous report suggesting the possible existence of an unrecognized low-grade chronic inflammation in patients with NI-CINS, which may be involved in the pathogenesis of neutropenia in the affected subjects.
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PMID:Increased frequency of monoclonal gammopathy of undetermined significance in patients with nonimmune chronic idiopathic neutropenia syndrome. 1134

There is strong evidence that non-immune chronic idiopathic neutropenia of adult is a cytokine-mediated syndrome characterized by (a) neutropenia of varying degree associated with a low number of lineage-specific CD34+ cells and increased production of inhibitors of hematopoiesis, including transforming growth factor-beta1 and tumor necrosis factor-alpha; (b) lymphopenia due to selective loss of primed/memory T-cells and NK cells; (c) increased splenic volume on ultrasonography in 48.1% of patients; (d) osteopenia and/or osteoporosis in 60.0% of patients; (e) anemia, mostly of the type of anemia of chronic disease, in 15.6% of patients; (f) features of chronic antigenic stimulation, including increased proportion of bone marrow plasma cells, increased serum levels of IgG1 and/or IgA, increased frequency of monoclonal gammopathy of undetermined significance, increased frequency of antinuclear antibodies with specific reactivity, and increased serum levels of circulating immune complexes; and (g) increased concentrations of a variety of macrophage-derived pro-inflammatory cytokines and chemokines capable of affecting bone metabolism, bone marrow function, and leukocyte trafficking. All these findings are suggestive of the existence of an unrecognized low-grade chronic inflammatory process which may be involved in the pathogenesis of the disorder. Neutropenia in these patients is probably the result of a combination of at least three factors, reduced neutrophil production in bone marrow, enhanced neutrophil extravasation, and increased sequestration and/or extravasation of neutrophils into the spleen.
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PMID:Non-immune chronic idiopathic neutropenia of adult: an overview. 1155 65

Mouth ulcers are commonly caused by infection but may be due to neutropenia. The most common form of hyper-IgM syndrome is of X-linked inheritance and caused by CD40 ligand gene mutations. Consider hyper-IgM syndrome in a male child with recurrent bacterial or opportunistic infections, neutropenia, hypogammaglobulinaemia (IgG and IgA) and normal T- and B-cell counts. In X-linked hyper-IgM syndrome: - the serum IgM concentration is normal in about 50% of cases. - transient or persistent neutropenia occurs in 70% of cases. First-line therapeutic options for hyper-IgM syndrome include regular intravenous immunoglobulin and prophylactic trimethoprimsulphamethoxazole.
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PMID:Fevers and mouth ulcers. 1188 19

A 3-year-old Turkish boy with a history of chronic cough, recurrent bronchopneumonia, and a borderline sweat chloride test (40 mEq/L) was referred for further evaluation to our department. He was born at term (2100 g) to a marriage with no consanguinity. His mother and father were 40 and 46 years old, respectively. Physical examination (Fig. 1) revealed hypopigmented, atrophic, and hyperkeratotic skin lesions surrounded by reticulate hyperpigmentation on the entire body, predominantly on the face, neck, arms, shoulders, and legs, which had been noticed initially at the age of 18 months. Dystrophic toenails, sparse and thin hair, and phimosis were also observed. Laboratory tests disclosed an isolated neutropenia (white blood cell count, 1800/mm3). Bone marrow (BM) aspiration showed a decreased myelopoiesis without myelodysplastic changes, but normal erythropoiesis, megakaryopoiesis, and normal stroma. Lymphocyte subgroups containing CD4, CD5, CD6, CD8, CD19, CD23, and CD25, and immunoglobulin G (IgG), IgM, IgA, and IgE, were in the normal range; hemoglobin F (HbF), 2.8%. Spontaneous and clastogen-induced chromosome breaks were not increased. A skin biopsy showed increased pigmentation at the basal layer, dyskeratotic epidermal cells, and marked IgM deposition and cytoid bodies and mild IgA and IgG deposits at the dermo-epidermal junction. Lactate response to glucose challenge, amino acid chromatography, and urine organic acid analysis were normal. A diagnosis of dyskeratosis congenita (DC) was made with typical skin lesions, dystrophic toenails, thin and sparse hair, and neutropenia with decreased myelopoiesis in BM. Treatment with granulocyte colony-stimulating factor (G-CSF) was considered for the neutropenia. As the increase in neutrophil count at a dose of 5 microg/kg was not adequate, 10 microg/kg G-CSF was tried (Fig. 2). With 10 microg/kg once to three times a week, a 1.8-4.8-fold increase in the absolute neutrophil count (ANC) was achieved with no side-effects. Treatment was more frequent during infection (days 22-28).
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PMID:Dyskeratosis congenita with isolated neutropenia and granulocyte colony-stimulating factor treatment. 1201 Mar 44

The hyper-IgM syndrome is a rare immunodeficiency disease in which the ability of B cells to switch immunoglobulin production from IgM to IgG, IgA and IgE is defective. The deficiency of IgG and IgA leads to recurrent infections of the respiratory tract, but some patients are susceptible to infection with opportunistic microorganisms, such as Cryptococcus neoformans, and also are prone to neutropenia and mucocutaneous ulcerations. We report a case of a two-year-old boy that was given the diagnosis of the hyper-IgM syndrome on the basis of low serum concentrations of IgG and IgA and high serum levels of IgM associated with C. neoformans infection, neutropenia and mucocutaneous ulcerations. Intravenous immune globulin improves dramatically the disorder, including neutropenia. To date, periodical infusion of immune globulin has prevented the development of serious infections.
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PMID:[Hyper-IgM syndrome: mucocutaneous lesions and neutropenia]. 1209 27

About 90 cases of platelet satellitism (PS) have been published, most of them involving neutrophils, a few comprising monocytes, and one case involving basophils. The case of a 30-year-old female patient with cutaneous vasculitis who developed asymptomatic severe neutropenia is reported. All blood smears (BS) prepared from peripheral blood samples collected with either ethylenediaminetetraacetic acid, trisodium citrate, and heparin showed PS involving neutrophils, eosinophils, and monocytes. Immunohistochemistry analysis of her skin biopsy and BS, employing peroxidase stain for the detection of antibodies directed against IgG, IgA, IgM, and C3, revealed an intense positive reaction only for IgG in the endothelium and leukocyte clumps within the microvasculature, as well as in peripheral blood neutrophils displaying the PS phenomenon. Transfer of the PS phenomenon was demonstrated by incubating the patient's plasma with leukocytes from an ABO-compatible healthy donor. In our patient, PS did not disappear after incubation at 37 degrees C, suggesting that this might be a different or "atypical" PS phenomenon probably mediated by an autoimmune process involving an IgG-class antibody responsible for both conditions, PS, and cutaneous vasculitis.
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PMID:Platelet satellitism, spurious neutropenia, and cutaneous vasculitis: casual or causal association? 1211 72


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