Skip to main content

Holiday schedule

Quest Diagnostics Patient Service Centers will be closed on Monday, September 7th, 2026 in observance of the Labor Day Holiday.  Have a healthy, happy holiday.

Hide
Quest Diagnostics

A Pleiotropic Recurrent Dominant ITPR3 Variant Causes a Complex Multisystemic Disease

A Pleiotropic Recurrent Dominant ITPR3 Variant Causes a Complex Multisystemic Disease

Authors: Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S

Citation: Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545

Specialties: Genetics, Immunology

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Related content

Conference Presentation
Genetic testing for inborn errors of immunity: comparing a primary immunodeficiency panel with a comprehensive immune and cytopenia panel
Conference Presentation
Noncoding Variants and High-Resolution CNV Analysis are Important Contributors to the Yield of Genetic Testing in Patients with Primary Immunodeficiencies
Publication
Perceived Barriers, Recommendations, and Resources for Multistate Licensure in the United States: A Mixed-Methods Study of Laboratory Genetic Counselors

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA-certified laboratories that provide HIPAA-covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA-covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2026 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.