NY ROYAL

The NY PIDC is proud to host New York Regional Inborn Errors of Immunity Resource Initiative League (NY ROYAL). NY ROYAL addresses the central issue in clinical immunology: that clinical management, immune diagnostics, and genetic diagnostics and interpretation require multidisciplinary expertise and networks of resources to properly identify and care for the myriad rare complex disorders.

NY ROYAL’s goals are:

• To provide rapid consultations for clinicians in primary care and/or for adult or pediatric subspecialty clinicians who have patients with known or suspected monogenic immune disorders, or who have encountered genetic diagnoses via screening (e.g. prenatal, newborn), and who have questions about clinical diagnoses, genetic results, management, and access to research studies.
• To help interpret genetic sequencing results, suggesting clinical diagnostics when available, and to facilitate research-based evaluations of variants of unknown significance, to help establish whether there is a role for encountered variants in the patient’s disease.
• To provide recommendations for additional workup, including further genetic testing, management, and relevant clinical referrals.

What We Do

The program consists of three interrelated components:

• A panel of basic and clinical immunologists and geneticists who help review clinical vignettes, diagnostic testing, and, when present, deidentified sequencing results submitted by providers for patients throughout the NY region.
• Regular meetings that bring referring clinicians together with the panel to discuss individual cases and to provide recommendations and follow up on previous cases when there are new findings.
• Facilitation of research laboratory workup of variants of interest, often including samples from patients. Centralized consent, and facilitation of sample acquisition, storage, and shipping to relevant labs either in the New York area or, when needed, beyond.

Ultimately, the goal is to systematically and more rapidly ascertain whether variants might be pathogenic or benign, and provide more information that can then be used to reclassify variants of unknown significance, and ultimately, help make diagnoses in cases where a genetic cause is unclear.

We have begun holding regular meetings to review cases, and will soon initiate a process for research-based testing.

Submit a Case

We welcome the opportunity help review and, whenever possible, facilitate functional testing to begin to help clarify the pathogenicity of variants in cases where:

• it was not possible to find a clear explanation for the patient’s presentation, and
• VUS were present in any of the sequencing reports.

Genetic testing results can be attached as PDFs, but please crop out any personal identifying information. We do not yet have a system in place for any PII! Should we find that patient samples would be helpful, we will facilitate enrolling the patients on a research protocol to get samples and perform testing.