Diabète néonatal vrai associé à une maladie auto-immune

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

“…In one case, anti-insulin antibodies developed only after exogenous insulin therapy. 37 Antinuclear antibody has been either absent or present at low titre. 14 18 27 37 38 Late appearance of antibodies to proximal renal tubules, keratinocytes, pancreatic ascini and canals, and adrenals has also been reported.…”

“…14 18 27 37 38 Late appearance of antibodies to proximal renal tubules, keratinocytes, pancreatic ascini and canals, and adrenals has also been reported. 37 Cilio et al 36 reported a diabetes susceptibility HLA allele inherited from the father (DQB1*0201, DR3) in a severely affected infant.…”

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

“…7 X-linked recessive inheritance accounts for the familial cases in the seven kindreds studied to date, 2-9 but sporadic cases in boys have also been reported. 6,[10][11][12] The results of immunologic investigations of IPEX 1 are inconsistent with any of the known X-linked immunodeficiency diseases. 13 Severe infections have been observed in patients with IPEX, but they may have been complications of immunosuppressive therapy.…”

Sostoyanie sistemy ?POL-antioksidanty? u beremennykh, bol'nykh sakharnym diabetom tipa 1, i ikh plodov

“…Е. Find представил случай ТНД в сочетании с аутоиммунной энтеропатией [8] В 1995 г. К.I.Temple впервые в 2 случаях ТНД обнаружила изодисомию участка 24 в длинном плече 6-й хромосомы, которая была унаследована от отца (т.е. больные унаследовали 2 хромо сомных гомолога от одного родителя) [22].…”