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A case of X linked agammaglobulinaemia complicated with systemic amyloidosis
  1. I TEZCAN,
  2. F ERSOY,
  3. Ö SANAL,
  4. E NAZLI GÖNC,
  5. M ARICI,
  6. I BERKEL
  1. Division of Paediatric Immunology
  2. Hacettepe University Children’s Hospital
  3. 06100 Ankara, Turkey

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    Editor,—We recently cared for a 27 year old man who died of multiple organ failure caused by systemic amyloidosis. Immunoperoxidase staining of a rectal biopsy specimen showed AA-type amyloid fibrils. He had been diagnosed at the age of 14 months as having X linked agammaglobulinaemia (XLA), presenting with a history of recurrent pneumonia and skin infections, as well as undetectable B cells and very low immunoglobulin concentrations.

    His serum IgG concentrations had been kept at about 4 g/l by monthly intramuscular, and subsequently intravenous, γ globulins. He had a reasonably good quality of life except for troublesome recurrent swelling and pain in his knees. Five years before his death he was diagnosed as having pulmonary tuberculosis and treated accordingly.

    Amyloidosis is a rare complication of XLA. None of the 96 XLA patients reported by Lederman1 had amyloidosis. Hermaszewski2 presented two patients with renal amyloidosis out of 44 XLA cases. Renal amyloidosis and systemic amyloidosis were also described in two patients with hypogammaglobulinaemia and XLA.3 4 The type of amyloid fibrils in these patients was AA-type, as in our case. Patients with XLA cannot synthesise immunoglobulins and they do not have any plasma cells, therefore, the immunocyte derived amyloidosis consisting of AL proteins seems to be impossible. The pulmonary tuberculosis and rheumatoid arthritis-like process in our patient might have contributed to the development of amyloidosis.

    In our clinic, among more than 100 patients with primary B cell deficiency followed up for 25 years, we have observed systemic amyloidosis in one patient with hyperimmunoglobulin M syndrome,5 and renal amyloidosis in a patient with mucocutaneous candidiasis. This suggests that there might be an additional factor, such as a genetic basis in the development of amyloidosis.

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