MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity.

Most hereditary forms of hemophagocytic lymphohistiocytosis (HLH) are caused by defects of cytotoxicity, including the vesicle trafficking disorder Griscelli syndrome type 2 (GS2, RAB27A deficiency). Deficiency of the mitogen-activated protein kinase activating death domain protein (MADD) results in a protean syndrome with neurological and endocrinological involvement. MADD acts as a guanine nucleotide exchange factor for small guanosine triphosphatases, including RAB27A.

Vaccination rate and immunity of children and adolescents with inflammatory bowel disease or autoimmune hepatitis in Germany.

Background And Aims: Immunosuppressed patients are at risk of severe infections with vaccination preventable diseases. We evaluated vaccination rate and immunity of children and adolescents with inflammatory bowel disease (IBD) and autoimmune hepatitis (AIH).

Methods: Immunization rate of 329 children with IBD (n = 300) and AIH (n = 29) was assessed in seven German centres using vaccination certificates, history of chicken pox and by determining anti-varicella zoster virus (VZV) and anti-measles IgG antibodies.

Impact on the hepatic flow velocity after pediatric combined liver-kidney transplantation compared to isolated pediatric liver transplantation-A matched-pair analysis.

Background: Combined liver-kidney transplantation (CLKT) in children is still a rarely performed procedure. Our aim was to analyze the effect of the simultaneous transplantation of the kidney in pediatric CLKT on the liver graft flow velocity, and vascular complications compared to singular liver transplantation (LTX) in children.

Methods: All pediatric CLKT performed at our institution from 1998 to 2016 were matched with singular LTX and retrospectively analyzed.

Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis.

Objectives: Bile salt export pump (BSEP) deficiency is an important reason for chronic cholestasis leading to liver transplantation (LT) in early childhood. The underlying pathology is a dysfunction of BSEP due to various mutations in the ABCB11 gene. Cases of clinical recurrence after LT due to alloantibodies directed against BSEP (antibody-induced BSEP deficiency [AIBD]) have been reported.

Antibiotic prophylaxis in the management of percutaneous endoscopic gastrostomy in infants and children.

Background: In randomized controlled trials in adult patients the use of prophylactic broad-spectrum antibiotic reduces the number of insertion site and systemic infections, associated with placement of percutaneous endoscopic gastrostomy (PEG) tubes. For pediatric patients no such trials exist. The aim of this study was to assess the value of antibiotic prophylaxis in PEG placement in pediatric patients.

A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience.

pLTx is a highly complex procedure. It can only be performed safely by experienced teams. Starting a new pLTx program in a country with established centers must therefore avoid a learning curve.

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Following homozygosity mapping in a single kindred, we identified nonsense and missense mutations in MYO5B, encoding type Vb myosin motor protein, in individuals with microvillus inclusion disease (MVID). MVID is characterized by lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli. In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID.

Pediatric liver transplantation. Introduction of a program for southern Germany in Heidelberg.

Pediatric liver transplantation in Germany is exclusively performed in four centers in the north of Germany. We report our experience with the implementation of a new pediatric liver transplantation program in Heidelberg for children living in the south of Germany. In a pilot phase, we have transplanted eight children with various transplantation techniques including reduced size, left lateral split (segments 2 and 3), and full left split (segments 1-4).