Deficit of Cell-Mediated Immunity, Chromosomal Alterations and Defective DNA Repair in a Case of Dyskeratosis Congenita

Giannetti, Aurora; Seidenari, Stefania

doi:10.1159/000250482

Cited by 17 publications

(8 citation statements)

References 9 publications

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“…Although his CMV disease has been controlled with prolonged gancyclovir therapy, it has resulted in severe permanent visual impairment. Immune function studies in this patient prior to transplant showed a reduction in T-cell numbers, which has been previously described in association with opportunistic infections in individuals with dyskeratosis congenita (Giannetti & Seidenari, 1980;Connor & Teague, 1981;Weideman et al, 1984;Rose & Kern, 1992;Lee et al, 1992).…”

Section: Discussionsupporting

confidence: 75%

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

et al. 1996

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Eight patients with aplastic anaemia associated with dyskeratosis congenita received allogeneic marrow grafts from either HLA-identical siblings (six patients) or HLA-matched unrelated donors (two patients). Patients who received marrow from HLA-identical siblings were conditioned with cyclophosphamide (140-200 mg/kg), with or without antithymocyte globulin. Patients who received unrelated donor marrow were conditioned with cyclophosphamide (120 mg/kg) and total body irradiation (1200 cGy). The six patients who survived for >2 weeks following transplant all had haematological evidence of engraftment, and all three patients who survived for at least a year following transplant recovered normal haematological function. Three patients died with respiratory failure and pulmonary fibrosis at 70 d. 8 years and 20 years posttransplant; three patients died during the neutropenic period of invasive fungal infections; one patient died on day 44 of refractory acute graft-versus-host disease; and one patient remains alive 463 d following transplant. The surviving patient recently underwent surgical resection of a Dukes' stage C rectal carcinoma diagnosed 14 months posttransplant. The aplastic anaemia associated with dyskeratosis congenita can be successfully treated by allogeneic bone marrow transplantation; however, this approach does not reverse the other systemic manifestations of the syndrome. The pathogenesis of the intestinal lung disease observed in dyskeratosis congenita patients following marrow transplantation is not understood.

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Section: Discussionsupporting

confidence: 75%

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

et al. 1996

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“…'2,16,20-23 That these alterations might also result in functional effects is suggested by the evidence of cutaneous anergy in 11 patients.5,10,12,19,23-28 and a reduced mitogenic response of the lymphocytes in 9 of the 15 patients. 10,11,21,23,26 Approximately 50% of the patients with an impaired lymphocyte response acquired recurrent infections or even opportunistic infections such as Pneumocystis carinii pneumonia (PCP). Defects in the complement system have not been described.…”

Section: Skin Alterationsmentioning

confidence: 99%

Dyskeratosis Congenita: Multisystemic Disorder with Special Consideration of Immunologic Aspects

Sölder

Weiss²,

Jäger³

et al. 1998

Clin Pediatr (Phila)

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Dyskeratosis congenita (DC) is a rare, predominantly X-linked multisystemic disorder. It demonstrates a wide spectrum of clinical manifestations and typically presents with dermatologic symptoms during the first decade of life. This review of the literature points out the importance of hematologic and immunologic alterations in defining the course and prognosis of the disease process. Pancytopenia as well as the humoral and cellular disturbances in immunologic functions associated with this disease complex may lead to severe infections that represent the main cause of death. The pathogenesis of DC is still unclear and a curative therapy is presently lacking. Recent reports suggest that a beneficial effect may be observed in the administration of hematopoietic growth factors (G-CSF, GM-CSF) for patients with DC and neutropenia.

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“…Several reports have documented a normal level of induced chromosomal instability in congenital dyskeratosis (reviewed in [10]; additional reports in [1,5]). In a few cases, an increase of the spontaneous breakage rate has been observed [3,8].…”

Section: Discussionmentioning

confidence: 99%

Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from fanconi anaemia

et al. 1988

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A male infant is reported with congenital dyskeratosis and pancytopenia Zinsser-Engman-Cole. The bone marrow pathology showed similarities to Fanconi anaemia. Ophthalmological complications were vitreous haemorrhage, haemorrhagic cataracta complicata and glaucoma. Spontaneous and diepoxybutane-induced chromosomal fragility was within the range of normal cells but was elevated through induction with 4-nitroquinoline-oxide. These findings are contrasted with those of Fanconi anaemia.

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Deficit of Cell-Mediated Immunity, Chromosomal Alterations and Defective DNA Repair in a Case of Dyskeratosis Congenita

Cited by 17 publications

References 9 publications

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

Dyskeratosis Congenita: Multisystemic Disorder with Special Consideration of Immunologic Aspects

Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from fanconi anaemia

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