Pediatric-onset primary biliary cirrhosis

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

“…AMA are the hallmark of PBC, an autoimmune cholestatic liver disease characterized by chronic inflammation [16] and the selective destruction of intrahepatic bile ducts mediated by autoreactive T cells [17,18]. PBC is most common among adult females [19] and is very rare in children [20] with solid genetic bases [21,22]. The subject in which we identified AMA-positive IgA antibodies has not yet manifested any sign of liver damage or cholestasis although there may be long latency between AMA appearance and disease onset [23].…”

IL-2 receptor alpha deficiency and features of primary biliary cirrhosis

“…Although PBC has been described in two adolescents Abbreviations: ALT, amino alanine transferase; ANA, anti-nuclear antibody; anti-LKM, anti-liver kidney microsome-1 antibody; AMA, anti-mitochondrial antibody; AST, aspartate amino transferase; CENP-A, centromeric protein A; CENP-B, centromeric protein B; c-ANCA, cytoplasmic anti-neutrophil antibody; CMV, cytomegalovirus; EBV, Epstein Barr virus; ELISA, enzyme-linked immunosorbent assay; GGT, Gamma-glutamyl transpeptidase; HIV, human immunodeficiency virus; IgA, immunoglobulin A; IgG, immunoglobulin G; IgM, immunoglobulin M; IL-2Ra, interleukin-2 receptor alpha (CD25); p-ANCA, perinuclear neutrophil cytoplasmic antibody; PDC-E2, pyruvate dehydrogenase-E2 subunit; PBC, primary biliary cirrhosis; PSC, primary sclerosing cholangitis; PCR, polymerase chain reaction; RT-PCR, reverse-transcription polymerase chain reaction; SLE, systemic lupus erythematosus; Treg, regulatory T cells; tTG, tissue transglutaminase. [10], it has never been described in childhood [11e18]. We describe herein the presence of PBC in a 5 year old male with IL2Ra deficiency.…”

Primary Biliary Cirrhosis

“…Unlike most other autoimmune diseases, PBC has not been described in children and the youngest described cases were still postpubertal at presentation [34]. Patients with PBC may present in their 20s, but most are diagnosed between the ages of 40 and 55 years -except for the large cohort described from the Newcastle area of England.…”