Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

by Nicholas L Rider, Nicholas L Rider
Published 2015-04-01

T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication

by Xavier Rios, Ivan K. Chinn, Jordan S. Orange, Celine I. Hanson, Nicholas L. Rider
Published 2017-07-01

Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia

by Roman Deniskin, Ghadir S. Sasa, Sarada L. Nandiwada, Sarada L. Nandiwada, Nicholas L. Rider
Published 2019-01-01

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

by Nicholas L Rider, Nicholas L Rider, Bertrand eBoisson, Soma eJyonouchi, Eric eHanson, Sergio eRosenzweig, Jean-Laurent eCasanova, Jean-Laurent eCasanova, Jordan eOrange, Jordan eOrange
Published 2015-01-01

Gastric Adenocarcinoma in the Setting of IPEX Syndrome

by David Steffin, Saleh Bhar, Douglas S. Fishman, Nicholas L. Rider, Bindi Naik-Mathuria, Caridad Martinez, Rajkumar Venkatramani
Published 2021-01-01

Calculation of a Primary Immunodeficiency “Risk Vital Sign” via Population-Wide Analysis of Claims Data to Aid in Clinical Decision Support

by Nicholas L. Rider, Di Miao, Margaret Dodds, Vicki Modell, Fred Modell, Jessica Quinn, Heidi Schwarzwald, Jordan S. Orange
Published 2019-03-01

Case Report: Post-Partum Complications of NFκB1 Deficiency Underscore a Need to Better Understand Primary Immunodeficiency Management During Pregnancy

by Diem-Tran I. Nguyen, Amanda Grimes, Donald Mahoney, Sebastian Faro, William T. Shearer, Aaron L. Miller, Nicholas L. Rider
Published 2021-07-01

PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.

by Nicholas L Rider, Gina Cahill, Tina Motazedi, Lei Wei, Ashok Kurian, Lenora M Noroski, Filiz O Seeborg, Ivan K Chinn, Kirk Roberts
Published 2021-01-01

Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality

by Jacqueline D. Squire, Stephanie N. Vazquez, Angela Chan, Michele E. Smith, Deepak Chellapandian, Laura Vose, Beatriz Teppa, I. Celine Hanson, Ivan K. Chinn, Lisa Forbes-Satter, Filiz O. Seeborg, Sarah K. Nicholas, Caridad A. Martinez, Carl E. Allen, Thomas J. Connors, Prakash Satwani, Maria Shtessel, Hanadys Ale, Lenora M. Noroski, Nicholas L. Rider, Joshua D. Milner, Jennifer W. Leiding
Published 2020-12-01

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

by Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss
Published 2012-01-01