Familial thrombocytopenia, elevated serum IgA levels and renal disease

Gutenberger, James E.; Trygstad, Carl W.; Stiehm, E. Richard; Opitz, John M.; Thatcher, L. Gilbert; Bloodworth, J. M. B.; Setzkorn, Julianne

doi:10.1016/s0002-9343(70)80055-9

Cited by 42 publications

(21 citation statements)

References 19 publications

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“…One variant of the syndrome is associated with I gA nephropathy, potentially leading to end-stage renal failure [8][9][10]. Renal transplantation is not usually recommended in this condition because of the underlying immunodeficiency and the increased risk of lymphoma.…”

Section: Discussionmentioning

confidence: 99%

Fatal outcome of renal transplantation in a patient with the Wiskott-Aldrich syndrome

Fischer

Binet²,

Oertli

et al. 1996

Nephrology Dialysis Transplantation

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Section: Discussionmentioning

confidence: 99%

Fatal outcome of renal transplantation in a patient with the Wiskott-Aldrich syndrome

Fischer

Binet²,

Oertli

et al. 1996

Nephrology Dialysis Transplantation

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“…Since the publication of Vestermark and Vestermark in 1964, a few additional families have been reported [3,7,13] who presented a similar condition and mode of inheritance and several of these showed evidence of a minor immunological defect. C anales and M auer [3] found absent or low isohaemagglutinins in 3 and isolated increase of IgA concentration in another 3 of the 7 male members of a family.…”

Section: Discussionmentioning

confidence: 99%

“…G utenberger et al [7] reported in 1970 a kindred with 45 members, in which 12 had thrombocyto penia. Eight of these presented elevated IgA concentrations, and renal biopsies in 3 showed various degrees of glomerulonephritis.…”

Section: Discussionmentioning

confidence: 99%

“…Attempts to elucidate the genetic relations of the various clinical types by linkage analysis, using the Xg locus as a marker, have been made by some of the earlier investigators [2,4,7]; it is regrettable that only one of these papers [7] gives all details of the Xg blood group determinations, which make them available to future studies of sex-linked recessive thrombocytopenias.…”

Section: Discussionmentioning

confidence: 99%

“…Since hereditary thrombocytopenia has been reported to coincide vvitli immunological deficiency [3,7,13]. the entire family lias been studied immunologically.…”

Section: Introductionmentioning

confidence: 99%

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Sex-Linked Hereditary Thrombocytopenia with Immunological Defects

Cohn¹,

Hauge²,

Andersen³

et al. 1975

Hum Hered

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14 cases of severe thrombocytopenia in one family are presented. Case histories, clinical examination, analyses of platelets, haemoglobin, reticulocytes, leucocytes, eosinophilocytes, differential counts of leucocytes, serum immunoglobulin IgA, IgM, IgG, IgE concentrations, complement fixing platelet antibodies, isohaemagglutinins, colour perception, determination of red cell and serum groups as well as HL-A types were obtained from a total of 59 members of the family. The in vitro blast transformation response of blood lymphocytes was studied in 6 patients and 45 relatives. The pattern of transmission of the disease was in full agreement with X-linked recessive inheritance. Investigation of the immune system revealed impaired responses to microbial antigens in the 6 patients so studied. All relatives examined had normal haematological status, whereas approximately half showed a subnormal response to one microbial extract. The low responders were evenly distributed within the family, and it was not possible to correlate low response and presumed carrier state.

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Immunoglobulin A Nephropathy

Zimmerman¹,

Burkholder²

1975

Arch Intern Med

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IgA nephropathy (Berger's disease) is characterized by renal deposits of IgA, the origin of which is still unknown. However, several clinical and biological findings suggest that these immunoglobulins might have a mucosal origin, and that such patients should present mucosal abnormalities.This paper reports the results of the immunohistomorphometrical analysis of tonsillar plasma cells from seven patients suffering from Berger's disease and seven controls also with recurrent tonsillitis. IgG, IgA, and IgM-secreting cells were enumerated after immunofluorescent staining of serial frozen-cut sections from 20 tonsils. In controls, a predominance of the IgG-secreting population, similar to this reported in the literature was observed (65% of IgG secreting cells and 29% of IgA plasma cells), while an inversion in the patients' plasma cells percentages was evidenced (IgG:37%, IgA:56%).This increment in the IgA population was paralleled by an augmentation of the number of dimeric IgAsecreting cells (75% of IgA plasma cells), stained both for cytoplasmic IgA and J chain. In controls, the latter cells were in similar proportions as previously reported by others (45% of IgA plasma cells).These results demonstrate an imbalance in the IgAproducing system of patients with Berger's disease, which is in keeping with the hypothesis favoring a mucosal origin for the mesangial IgA present in their kidneys.

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Familial thrombocytopenia, elevated serum IgA levels and renal disease

Cited by 42 publications

References 19 publications

Fatal outcome of renal transplantation in a patient with the Wiskott-Aldrich syndrome

Fatal outcome of renal transplantation in a patient with the Wiskott-Aldrich syndrome

Sex-Linked Hereditary Thrombocytopenia with Immunological Defects

Immunoglobulin A Nephropathy

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