Revised classification of ALPS-related disorders
| Previous nomenclature . | Revised nomenclature . | Gene . | Definition . |
|---|---|---|---|
| ALPS type IIb | CEDS | CASP8 | Patients present with lymphadenopathy and/or splenomegaly, marginal DNT elevation, recurrent infections, and germline mutations in caspase 8. |
| ALPS type IV | RALD | NRAS | Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, elevated or normal DNTs, and somatic mutations in NRAS. |
| DALD | DALD | Unknown | Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, normal DNTs, and defective in vitro FAS-mediated apoptosis. |
| XLP1 | XLP1 | SH2D1A | Patients present with fulminant Epstein-Barr virus infection, hypogammaglobulinemia, or lymphoma. |
| Previous nomenclature . | Revised nomenclature . | Gene . | Definition . |
|---|---|---|---|
| ALPS type IIb | CEDS | CASP8 | Patients present with lymphadenopathy and/or splenomegaly, marginal DNT elevation, recurrent infections, and germline mutations in caspase 8. |
| ALPS type IV | RALD | NRAS | Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, elevated or normal DNTs, and somatic mutations in NRAS. |
| DALD | DALD | Unknown | Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, normal DNTs, and defective in vitro FAS-mediated apoptosis. |
| XLP1 | XLP1 | SH2D1A | Patients present with fulminant Epstein-Barr virus infection, hypogammaglobulinemia, or lymphoma. |
CEDS, caspase 8 deficiency state; RALD, RAS-associated autoimmune leukoproliferative disease; DALD, Dianzani autoimmune lymphoproliferative disease; and XLP1, X-linked lymphoproliferative syndrome.