Familial Benign Chronic Neutropenia

Cutting, Hunter O.

doi:10.7326/0003-4819-61-5-876

Cited by 34 publications

(16 citation statements)

References 20 publications

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“…Lymphosarcoma has been reported in three persons with cyclical neutropenia [41]. These inborn blood dyscrasias may mimic leukemia [8], or leukemia may induce a hematologic disorder that mimics them. Neither error seems to have been made in the cases cited above from the literature nor in our series on the death certificate for a 14-year-old boy who died of congenital agranulocytosis at a leading university hospital.…”

Section: Hematologic Abnormalities (Cases 61-69)mentioning

confidence: 98%

Childhood Cancer and Congenital Defects A Study of U.S. Death Certificates During the Period 1960–1966

Miller

1969

Pediatr Res

115

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Section: Hematologic Abnormalities (Cases 61-69)mentioning

confidence: 98%

Childhood Cancer and Congenital Defects A Study of U.S. Death Certificates During the Period 1960–1966

Miller

1969

Pediatr Res

115

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“…The neutrophil elastase gene mutations (ELA2) have been found in a subgroup of patients with Kostmann disease, although these mutations are also found in some healthy family members. This disorder, 14,15 inher ited as an autosomal dominant trait, is characterized by chronic moderate to severe neutropenia, monocytosis, lym phocytosis and occasionally moderate eosinophilia. 7 HAX1 functions include signal transduc tion, cytoskeletal control and regulation of apoptosis and it is reported to play a role in suppression of apoptosis in lymphocytes and neurons, resulting in prolonged survival of these cells.…”

Section: Neutropeniamentioning

confidence: 99%

Abnormalities in leukocyte morphology and number

Zini¹

2011

Blood and Bone Marrow Pathology

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“…Inheritance is autosomal dominant. Patients may be asymptomatic or have mild infections that may require antibiotic therapy [12]. Benign chronic familial neutropenia is a heterogeneous group, most likely with diverse genetic lesions.…”

Section: Discussionmentioning

confidence: 99%

“…Joints and extremities were normal. Laboratory studies showed a red cell count of 5 12 , TSH, ANA, and rheumatoid factor were normal. Urinalyses were normal.…”

Section: Case Reportmentioning

confidence: 95%

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Benign chronic neutropenia with abnormalities involving 16q22, affecting mother and daughter

et al. 2006

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We report a case of familial, chronic, benign neutropenia in a 17-year-old female showing (1) the spontaneous expression of a heritable rare fragile site at 16q22 and (2) a deletion at the same region. The del(16)(q22), which most likely originated from the fragile site, was the main clonal abnormality detected in the patient's bone marrow cells, whereas a few cells with either del(16)(q22) or fra(16)(q22) were seen in the patient's peripheral blood. Interestingly, the del(16q) was also detected in the patient's uncultured cells, as demonstrated by FISH, excluding an in vitro origin of the del(16q) during culture. The bone marrow was hypocellular with decreased neutrophils and their precursors. Absolute neutrophil counts ranged from (0.62 to 1.24) 3 10 9 /L with a median value of 1.02 3 10 9 /L. The patient had a more severe neutropenia than her mother, which correlated with the presence of more cells with del(16q) in the marrow. The patient's mother, who was also diagnosed with neutropenia, revealed only a few cells with the rare fra(16)(q22) in her peripheral blood cells, whereas her bone marrow showed cells with both fra(16)(q22) and del(16)(q22), although the del(16q) was present in only 2/20 cells. Some possible candidate genes contributing to the pathogenesis of the neutropenia are discussed. Chromosome abnormalities involving the 16q22 breakpoint have been observed in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In this patient, the del(16)(q22) risk factor is unknown for subsequent development of MDS or AML. Another point to consider is the need to determine the origin of a chromosome abnormality, particularly when the clinical picture does not fit the chromosome findings. Although, the observation of a constitutional structural abnormality in a mosaic form is an extremely rare event, it is somewhat different in the case of a fragile site expression, which can, as in this case, be present in some cells and not in others. Am. J. Hematol. 81:262-270, 2006. V V C 2006 Wiley-Liss, Inc.

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Familial Benign Chronic Neutropenia

Cited by 34 publications

References 20 publications

Childhood Cancer and Congenital Defects A Study of U.S. Death Certificates During the Period 1960–1966

Childhood Cancer and Congenital Defects A Study of U.S. Death Certificates During the Period 1960–1966

Abnormalities in leukocyte morphology and number

Benign chronic neutropenia with abnormalities involving 16q22, affecting mother and daughter

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