Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Autoimmune lymphoproliferative syndrome classification
Introduction
Overview
Overview
Classification of ALPS is based on the recommendations made by first international ALPS workshop held at National Institutes of Health in 2009.
Classification
Classification
| Previous nomenclature | Revised nomenclature | Gene | Definition |
|---|---|---|---|
| ALPStype IIb | CEDS | CASP8 | Splenomegaly, marginal raised DNT, recurrent infections, germline mutations in caspase 8 |
| ALPS type IV | RALD | NRAS | Autoimmunity, lymphadenopathy and/or splenomegaly, elevated or normal DNTs, somatic mutations in NRAS |
| DALD | DALD | Unknown | Lymphadenopathy and /or splenomegaly, autoimmunity, normal DNTs, defective in vitro FAS-mediated apoptosis |
| XLP1 | XLP1 | SH2D1A | Hypogammaglobulinemia, fulminant Epstein- Barr virus infection, or lymphoma |
References
References
- ↑ Oliveira, Joao B.; Bleesing, Jack J.; Dianzani, Umberto; Fleisher, Thomas A.; Jaffe, Elaine S.; Lenardo, Michael J.; Rieux-Laucat, Frederic; Siegel, Richard M.; Su, Helen C.; Teachey, David T.; Rao, V. Koneti (2010). “Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop”. Blood. 116 (14): e35–e40. doi:10.1182/blood-2010-04-280347. ISSN 0006-4971.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: David Teachey, MD [2] Sharmi Biswas, M.B.B.S