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

Multiple infections and severe neutropenia were found in a previously healthy 29 year old man with no history of similar syndromes in the family, drug ingestion or exposure to environmental toxins. There was no evidence at the time of presentation of diseases previously associated with agranulocytosis (e.g., neoplasia, thyrotoxicosis, chronic infection, collagen-vascular disease or leukoagglutinating antibody). His serum contained a nonagglutinating, complement-dependent, cytotoxic antibody, however, reactive with peripheral blood granulocytes from 35 per cent of normal donors. The neutropenia was not affected by steroids but resolved promptly after splenectomy. Microscopic examination of the spleen revealed ingestion of polymorphonuclear leukocytes by splenic macrophages. Family studies indicated that the target antigen was non-HLA and that the antibody was not absorbed by lymphocytes or platelets. We conclude that the agranulocytosis was autoimmune in origin and suggest that similar myeloid-specific immune responses could influence granulocyte tranfusion and bone marrow transplantation by alloimmune "rejection" that would not be avoided by matching only for HLA specificities.
 ...
PMID:Acquired agranulocytosis with granulocyte specific cytotoxic autoantibody. 44 60

A child with repeated infections was immunologically normal but was found to have neutropenia with periodic elevations of the absolute mature polymorphonuclear count at 21-day intervals. Immediately following the PMN rise, bone marrow morphology and in vitro cultures demonstrated a maturation arrest at the myelocyte stage with an increase in proliferative capacity. His cycle was not altered by infusions of normal plasma or by injections of epinephrine or typhoid vaccine. Infusion of 10 ml/kg of "stimulated" plasma from donors reactive to TV, obtained 60 minutes following immunization, resulted in an out-of-phase rise in PMN cells and clinical improvement. In vitro assays, using normal or patient marrow, detected high levels of colony-stimulating activity only in those plasma samples that were effective in the patient. These observations support a role of CSA as a physiologic regulator of granulopoiesis in man.
 ...
PMID:Chronic neutropenia: Response to plasma with high colony-stimulating activity. 108 Nov 33

A 20-month-old Indian boy presented with recurrent pyogenic infections and failure to thrive. His IgG and IgA levels were low, but his IgM was elevated. He also had undetectable isohaemagglutinin titre and neutropenia, both parameters being poor prognostic indicators in this very rare primary immunodeficiency state--antibody deficiency with hyper IgM. Our patient subsequently succumbed to Pseudomonas aeruginosa septicaemia and meningitis inspite of aggressive antibiotic and intravenous gammaglobulin therapy. To the best of our knowledge, this is the first such case to be documented in Malaysia.
 ...
PMID:Antibody deficiency with hyper IgM--a case report. 130 25

Localized plasma cell type Castleman's disease (CD) is an unusual pathologic entity. It is frequently associated with clinical and laboratory characteristics and rarely occurs in children. Total surgical excision results in cure in all aspects. To make early diagnosis of mesenteric CD is not easy, especially for children. An 11-year-old Taiwanese boy was recently evaluated for anemia and delayed growth. His clinical findings included a syndrome of severe hypochromic microcytic anemia, neutropenia, thrombocytosis, hypoferremia, hypergammaglobulinemia, and growth failure. Radiological examinations (abdominal ultrasound, small intestinal series, and computerized tomography) identified hepatosplenomegaly, nephromegaly, and huge masses in the middle abdomen with precaval, celiac, and paraaortic lymph nodal enlargement. However, detailed physical examination failed to detect a mass. At laparotomy a double-fist-sized confluent mass was found arising from the mesenteric root. Most masses were discrete and were excised individually. The pathologic diagnosis was plasma-cell type angiofollicular lymph node hyperplasia (Castleman's disease). Seven weeks after surgery, he had an episode of acute hepatitis B. Postoperatively, he exhibited a dramatic growth spurt; the hemoglobin, red blood cell indices, serum iron, and immunoglobulins returned to normal in 2 months. Neutropenia, which has not been previously related to mesenteric CD, was an unexpected finding in our case; however, it resolved spontaneously 3 months after the surgery, suggesting its causal relationship with the tumor.
 ...
PMID:New observations in a child with angiofollicular lymph node hyperplasia (Castleman's disease) originated from the mesenteric root. 151 Jan 96

We diagnosed infections from human parvovirus B19 in three patients by using dot-blot hybridization and a polymerase chain reaction to detect B19 DNA and using an enzyme immunoassay to detect IgG and IgM to B19. For 5 months a 5-year-old boy with acute lymphoblastic leukemia in remission had anemia without reticulocytes or bone marrow erythrocyte precursors. His serum lacked IgG and IgM to B19 but contained B19 DNA. He received gamma globulin intravenously (0.4 gm/kg/day for 5 days); his viremia promptly cleared and reticulocytosis developed. A 14-year-old boy with acute lymphoblastic leukemia in remission had fever, rash, neutropenia (less than 300 leukocytes/mm3), and a hemophagocytic syndrome lasting 3 weeks. His serum contained IgM to B19 and B19 DNA. Without therapy, IgG to B19 developed; although low levels of B19 DNA persisted, the leukocyte count returned to normal. In a 19-year-old patient with systemic lupus erythematosus and hemolytic anemia, an aplastic crisis lasted 2 weeks. Her serum lacked IgG and IgM to B19 but contained B19 DNA. Without therapy, IgG and IgM to B19 appeared, viremia diminished, and reticulocytosis occurred. These patients illustrate the varied manifestations of chronic B19 infections, the importance of DNA detection for diagnosis, and the possible efficacy of gamma globulin therapy.
 ...
PMID:Manifestations and treatment of human parvovirus B19 infection in immunocompromised patients. 168 74

Neutropenia in the newborn is often associated with sepsis, maternal hypertension, or prematurity. We describe a 654-g infant born at 30 weeks' gestation by cesarean section due to severe maternal hypertension. His course was complicated by five episodes of sepsis, including three with group B streptococcus. The results of hematologic and immunologic studies were normal except that absolute neutrophil counts were low (less than 1 x 10(9)/L) with intermittent increases during sepsis. Human recombinant granulocyte colony-stimulating factor administered subcutaneously (10 micrograms/kg per day initially) resulted in an absolute neutrophil count of greater than 30 x 10(9)/L within 2 weeks. The dosage was lowered and the absolute neutrophil counts were maintained at 8 to 12 x 10(9)/L with no further septic episodes. The human recombinant granulocyte colony-stimulating factor therapy was discontinued after 7 months, and the patient remained healthy with an absolute neutrophil count of greater than 2 x 10(9)/L. Thus, treatment with human recombinant granulocyte colony-stimulating factor may be useful as a temporary measure for neonatal neutropenia associated with sepsis. A controlled, clinical trial is warranted.
 ...
PMID:Neutropenia in an extremely premature infant treated with recombinant human granulocyte colony-stimulating factor. 171 73

A 12-month-old boy with Kostmann's syndrome was admitted with cavitary pulmonary disease. He had also had bacterial conjunctivitis, periorbital cellulitis, pneumonitis, and otitis media since the age of 10 days. His umbilical cord had not fallen off until he was 3 weeks old. Neutropenia was diagnosed at 4 weeks of age. Antineutrophil antibody studies were negative. A bone marrow aspirate showed granulocytic hypoplasia and a maturation arrest at the promyelocyte stage. Hematopoietic cell culture showed normal numbers of colony-forming units-granulocyte macrophage. Serum granulocyte-macrophage colony-stimulating factor level, was 0.24 ng/mL (normal, greater than 0.05 ng/mL). Serum granulocyte colony-stimulating factor levels, measured by enzyme immunoassay, were undetectable. The patient was successfully treated with filgrastim (granulocyte colony-stimulating factor), with an increase in the absolute neutrophil count to 10.0 x 10(9)/L. Thus, our case of Kostmann's syndrome appears to represent a defect in regulation or production of granulocyte colony-stimulating factor.
 ...
PMID:Measurement of serum granulocyte colony-stimulating factor in a patient with congenital agranulocytosis (Kostmann's syndrome). 171 5

A case of periodic neutropenia with specific symptoms of gingiva and alveolar bone loss in primary dentition is reported. The patient was a boy, and it was followed between the ages of 3- and 9 years-old. At the period of neutropenia he was suffered from recurrent redness, swelling and bleeding of the gingiva, and also with cold-like symptoms with fever. Although the cause of these symptoms was not definite at first, even in medical exploration, we could diagnose this disease as periodic neutropenia by the process of dental therapy. By alveolar bone resorption, pocket formation and severe tooth mobility, the patient had lost more than half of his primary teeth at the end of 2 years after the initial examination. However throughout this period we motivated and instructed the patient and his mother how to brush his teeth. His oral hygiene was improved in the mixed and permanent dentition stages. Then there was no evidence of bone resorption around the teeth of the permanent dentition stage, but recurrent gingival symptoms are continuing now. The specific feature of this case is found in the gingival findings. There was no ulceration of the oral mucosa, but a bright red jelly-like appearance was found periodically in the area of the marginal and attached gingiva. The junction between the reddened attached gingiva and the alveolar mucosa was well-defined. The serial examination of peripheral blood in this case revealed the cycle of neutropenia as 16 to 21 days. During this examination, and at the almost time of neutropenia of this patient, hyperplasia of monocytes and lymphocytes occurred. In this situation there was no clinical signs except for gingival redness. However at other times, generally marked signs were recurrent. This may have occurred due to the lack of both neutrophils and monocytes. From the above results we think that periodic neutropenia may be diagnosed first in the dental clinic by the distinctive redness in the gingival area as one specific sign of this disease. We also think that plaque control procedures may retain the teeth.
 ...
PMID:[Case report of periodontal disease with periodic neutropenia]. 248 57

It has been suggested that neutrophil (PMN) specific granules are important in cell aggregation, locomotion, hydroxyl radical formation, and in extracellular functions such as the generation of complement-related inflammatory mediators (C5a) and the feedback regulation of myelopoiesis. In the current studies, a 9-yr-old boy with a history of recurrent infections and specific granule deficiency (absent lactoferrin, B-12 binding proteins, and characteristic specific granules on sucrose gradient centrifugation of cell homogenates) was studied to assess some of these concepts. In vivo, the patient had decreased PMN and monocyte accumulation into Rebuck skin windows but an expected febrile episode with an associated neutropenia (PMN margination) and neutrophilia (mobilization of marrow reserves) in response to intravenous endotoxin. In vitro, the patient's resting PMN showed increased ruffling, increased surface-to-volume ratio, and increased numbers of centriole-associated microtubules. His PMN showed a significant decrease in cell negative surface charge (which may relate to aggregation) in response to several stimuli and adhered better than normally to plastic. In addition, his PMN aggregated normally in response to the chemoattractant f-met-leu-phe, although the subsequent disaggregation normally seen with PMN did not occur with the patient's cells. Chemotaxis of the patient's PMN to several stimuli was abnormal, and specific saturable and displaceable binding of the chemoattractant f-met-leu-[3H]phe was decreased. Similarly, following incubation with secretagogues, there was a less than normal increase in f-met-leu-[3H]phe binding and an absence of the normal increases in PMN surface area. The patient's PMN bactericidal activity, stimulated oxygen metabolism (cytochrome-c reduction, chemiluminescence, and NBT reduction), and elicited changes in membrane potential were also abnormal. Studies assessing the mechanism for the abnormal monocyte accumulation into skin windows indicated the patient's monocyte chemotaxis was better than normal in vitro. However, the patient's PMN homogenates lacked a stimulus of monocyte locomotion and did not generate chemotactic activity normally from serum. Thus, the data indicate that specific granule constituents are not required for neutrophil margination in vivo or aggregation in vitro. However, the data support the concept that PMN-specific granules are important for PMN locomotion and oxidative metabolism. In addition, extracellular release of specific granule constituents appears to be important for amplification of the initial and subsequent phases of the inflammatory response.
 ...
PMID:Human neutrophil-specific granule deficiency: a model to assess the role of neutrophil-specific granules in the evolution of the inflammatory response. 704 47

Hyper-IgM syndrome associating with severe neutropenie presenting in irregularis cycles was diagnosed in a 3-year-old male patient. His elder brother died of sepsis which appeared as a consequence of dysgammaglobulinaemia and neutropenia at the age of 9. We could not achieve a parmanent good result with the monthly immunoglobulin substitution and supportive treatment. The candida infection of the gingiva and of the oral mucous membrane expanded to the esophagus resulting in its complete occlusion and temporarily a gastrostomy was needed to feed him. We started with the recombinant human granulocyta colony stimulating factor (rh-G-CSF) treatment at the age of 6. We tried several ways of applying and finally the 10 micrograms/kg/dose given subcutan, for 5-10 days from the nadir of the neutropenic cycle seemed the most effective. The rh-G-CSF treatment resulted in an increase of ANC and the complete resolution of gingivostomatitis. The incidents of infections, the requirement of antibiotics and the duration of hospitalisation were markedly reduced. The consequent improvement in his physical condition made it possible to finally resolve the esophageal stricture surgically. We have not observed any neutropenic cycle since the end of the 14 month rh-G-CSF treatment. Though the medicine was discontinued there has been no recidiva for more than 22 months.
 ...
PMID:[Successful treatment of cyclic neutropenia associated with hyperimmunoglobulin M syndrome using recombinant granulocyte-colony stimulating factor]. 756 51


1 2 3 4 5 6 7 8 9 Next >>