Study of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients

Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system caused by a mutation in the FAS gene. The objective of this study is to determine the efficacy of soquelitinib in reducing spleen volume or target lymph node volume in people with ALPS-FAS.

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Office/Contact: Alanvin Orpia, B.S.N.
Phone: 240-669-2935
Email: alanvin.orpia@nih.gov
 

Existing Drug Shows Promise as Treatment for Rare Genetic Disorder

A drug approved to treat certain autoimmune diseases and cancers successfully alleviated symptoms of a rare genetic syndrome called autoimmune polyendocrine syndrome type 1 (APS-1).

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NIAID Clinical Genomics Program Resources

Researchers involved with the NIAID Clinical Genomics Program study many diseases of the immune system that are rare and not well understood but that often shed light on basic immune function and more common immune disorders. This research is carried out across multiple labs, disease processes, and with many different tools.

The NIAID Clinical Genomics Program centralizes resources to be used for genomics and related research.

Primary Immunodeficiency (PI) Diseases Registry at USIDNET

The Primary Immunodeficiency (PI) Diseases Registry at US Immunodeficiency Network (USIDNET) collects validated data on all PI diagnoses from patients who give Informed Consent. The de-identified data in the registry is freely disseminated to those with research questions about PI diseases.

USIDNET Cell Repository

The USIDNET Cell Repository, part of the US Immunodeficiency Network (USIDNET), provides a resource of DNA and functional lymphoid cells obtained from patients with various primary immunodeficiency diseases.

Database of Mutations Causing Human Hyper IgE Syndrome (STAT3base)

The STAT3base contains a listing of STAT3 mutations in human HIES identified in the Laboratory of Clinical Immunology and Microbiology as well as those published in the literature.

FUNGI Study- Unexplained Invasive Fungal Infections or APECED Syndrome in Adults and Children

The NIAID FUNGI study about unexplained invasive fungal infections or APECED syndrome in adults and children is seeking study participants.

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How do I find out more or volunteer?
If you have questions or would like more information, contact

Office of Patient Recruitment
Toll free: 1-800-411-1222 (reference 11-I-0187)
TTY: 1-866-411-1010
Se habla español.
Email: prpl@mail.cc.nih.gov