Immunodeficiency with Multiple Intestinal Atresias (TTC7A)

[1]  L. Borrego,et al.  Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. , 2017, European journal of medical genetics.

[2]  T. Jaksic,et al.  High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure , 2018, JPEN. Journal of parenteral and enteral nutrition.

[3]  P. De Camilli,et al.  Architecture of the human PI4KIIIα lipid kinase complex , 2017, Proceedings of the National Academy of Sciences.

[4]  S. Tsai,et al.  Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype Comparison , 2017, Front. Immunol..

[5]  G. Arumugakani,et al.  Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy , 2017, Journal of Clinical Immunology.

[6]  G. Lucchini,et al.  Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up. , 2016, Blood.

[7]  A. Fischer,et al.  Ichthyosis as the dermatological phenotype associated with TTC7A mutations , 2016, The British journal of dermatology.

[8]  L. Notarangelo Multiple intestinal atresia with combined immune deficiency , 2014, Current opinion in pediatrics.

[9]  F. Rieux-Laucat,et al.  Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. , 2014, The Journal of allergy and clinical immunology.

[10]  E. Schadt,et al.  Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. , 2014, Gastroenterology.

[11]  A. Fischer,et al.  TTC7A mutations disrupt intestinal epithelial apicobasal polarity. , 2014, The Journal of clinical investigation.

[12]  Michael P. Snyder,et al.  Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. , 2013, The Journal of allergy and clinical immunology.

[13]  P. Awadalla,et al.  Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia , 2013, Journal of Medical Genetics.

[14]  J. Talmadge,et al.  Donor immune reconstitution after liver-small bowel transplantation for multiple intestinal atresia with immunodeficiency. , 2004, Blood.