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Biomedical subjects

M Abinun

Publications and source records attributed to M Abinun.

59 records · Page 4Linked to original sources

Focal glomerular sclerosis and nephrotic syndrome in spondyloepiphyseal dysplasia.

The association of a spondyloepiphyseal dysplasia and disproportionate short stature with focal glomerular sclerosis is reported in two girls. Renal disease manifested by proteinuria at the age of 2.5 and 11 years, leading to treatment-resistant nephrotic syndrome over 15 and 45 months, respectively. One patient went into end-stage renal failure shortly after nephrotic syndrome developed, the other died from sepsis. The association of spondyloepiphyseal dysplasia and focal glomerular sclerosis with nephrotic syndrome may represent a distinct disease entity.

Adolescent↗

An unusual T-cell surface phenotype in vivo correlates with the failure to proliferate and produce IL-2 in vitro in a patient with common variable immunodeficiency.

Stimulation of T-lymphocytes derived from some patients with common variable immunodeficiency (CVID) syndrome results in defective proliferation. The underlying mechanism is related to the inability of stimulated cells to secrete IL-2 while the expression of IL-2 receptor (IL-2R) is normal. We have identified a patient whose peripheral T-cells failed to proliferate and secrete IL-2 upon stimulation. The addition of recombinant IL-2 restored proliferation. The defect did not seem to be caused by accessory cell failure since the patient's adherent cells produced IL-1 and IL-6, and addition of allogeneic irradiated cells did not induce proliferation. Stimulation of CVID T-cells with phorbol esters and Ca2+ ionophore induced both IL-2 secretion and proliferation, indicating the absence of a defect in the transcription and/or translation of the IL-2 gene. The patient's T-cells expressed high levels of CD3. The majority of T-cells expressed the CD38 molecule which is normally found on thymocytes or activated T-cells but not peripheral blood T-cells and HLA-DR, another activation marker. However, CD25 (the IL-2R) and CD1, a marker of more immature thymocytes, were not expressed. Finally, the patient's cells were sensitive to an in vitro corticosteroid treatment. The possibilities that this patient's T-cells represent anergic T-cells or not fully matured thymocytes are discussed.

ADP-ribosyl Cyclase↗

Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome.

A case report of an infant with the Wiskott-Aldrich syndrome and clinical and radiological features of infantile cortical hyperostosis (Caffey disease) is presented. This is the third case described of the association of these two rare disorders and gives further support to the role of an immunologic defect in the pathogenesis of infantile cortical hyperostosis.

Bone and Bones↗

[Penicillin allergy in children].

Penicillin allergy in children is overdiagnosed and paediatricians, fearing the possibility of fatal anaphylaxis, seldom question a report that a child is allergic to penicillin. Laboratory tests to predict whether a patient will react to penicillin are unhelpful in routine clinical practice and skin tests themselves carry a significant risk of anaphylaxis and even death. A few simple inquiries can often exclude the diagnosis. However, a history of penicillin therapy associated with an immediate reaction suggests penicillin allergy.

Child↗