Fanconi-like syndrome. Immunologic deficiency, pancytopenia, and cutaneous malignancies

Abels, D.

doi:10.1001/archderm.107.3.419

Cited by 6 publications

(4 citation statements)

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“…Two patients have been reported with familial or congenital pancytopenia and immune deficiency, but they did not have congenital malformations or chromosome abnormalities (1,11) and thus did not have typical Fanconi's anemia.…”

Section: Discussionmentioning

confidence: 96%

Indication of Primary Immune Deficiency in Fanconi's Anemia

Pedersen¹,

Hertz

Lundsteen

et al. 1977

Acta Paediatrica

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A girl with various congenital malformations developed pancytopenia and hypoplastic bone marrow at the age of 6 year. A chromosome study of lymphocytes showed numerous breaks, gaps and rearrangements, allowing the diagnosis of Fanconi's anemia. Treatment with corticosteroids and splenectomy did not result in hematologic remission. Repeated immunologic studies showed increasingly deficient T cell function as judged by lymphocyte transformation studies and skin test reactivity, whereas T cell number, T/B cell ratio, immunoglobulins, complement factors and neutrophil function were normal. A sever Pneumocystis carinii pneumonitis developed, but was successfully treated with pentamidine, sulfametoxazole with trimetoprim and transfer factor. Improvement of T cell function followed transfer factor therapy. Combined therapy with corticosteroids and androgens caused partial remission of the hematologic abnormalities. The probability of a primary immune deficiency in the patient is discussed.

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Section: Discussionmentioning

confidence: 96%

Indication of Primary Immune Deficiency in Fanconi's Anemia

Pedersen¹,

Hertz

Lundsteen

et al. 1977

Acta Paediatrica

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“…And fourthly, the epithelial tumors excepting hepatomas were exclusively squamous cell carcinomas of the tongue or esophagus or female outer genitalia. There are 3 papers reporting the immunological status of FA patients : Defects in cellular immunity (Pedersen et al 1977 ;Hersey et al 1982) and IgA absence (Abels and Reed 1973). Then, the rather premature surge of the epithelial tumors in FA may possibly be related to a reduced immune surveellance with NK cells against emerging cancer cells or IgA against any viral intrusion through the gastrointestinal and female genital tracts, for NK cells are greatly and rather "selectively" sensitive to radiation and therefore to superoxide radicals , and are evolutionarily thought to have emerged prior to T and B cells (Kumagai 1985).…”

Section: Discussionmentioning

confidence: 99%

Fanconi's anemia as a nature's evolutionary experiment on carcinogenesis.

Okuyama

1987

Tohoku J. Exp. Med.

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“…Vitiligo, a cutaneous lesion which is characterized by melanocyte absence, often accompanies the autoimmune diseases which frequently lead to the demise of immuno-deficient individuals (Fudenberg 1966, Fraser 1969. One report of pigmentary absence associated with immunoglobulin deficiency was not accompanied by microscopic study of the melanocytes (Bernier et al 1972) and a second described a skin biopsy as showing "slight atrophy and incontinence of pigment and a mild chronic inflammatory infiltrate" (Abels & Reed 1973). Other pigmentary abnormalities such as incontinentia pigmenti have been reported only rarely with immunoglobulin derangements (Honig & Miller 1972).…”

Section: Discussionmentioning

confidence: 99%

“…In a second report, Bernier et al (1972) described a child with white hair and fair skin, but normally pigmented irides, who had a dysgammaglobulinemia characterized by a deficiency of IgA, IgE, and kappa chains. Finally, a syndrome including IgA deficiency, elevated IgG, pancytopenia, abnormal delayed hypersensitivity, cutaneous mottling with hypopigmentation and hyperpigmentation has been documented with evidence suggesting either an autosomal recessive or sex-linked inheritance (Abels & Reed 1973).…”

mentioning

confidence: 99%