Phenocopies of primary immunodeficiency
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Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Classification
| Phenocopies of PID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Associated with Somatic Mutations | Associated with Auto-Antibodies | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-SFAS | Chronic mucocutaneous candidiasis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| RALD(RAS-associated autoimmune leukoproliferative disease) | Adult-onset immunodeficiency with susceptibility to mycobacteria | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cryopyrinopathy(Muckle-Wells Syndrome) | Recurrentt skin infections | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypereosinophilic syndrome due to somatic mutations in STAT5b | Pulmonary alveolar proteinosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acquired angiooedema | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Hemolytic Uremic Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thymoma with hypogammaglobulinemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ALPS-SFAS
- Heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes.
- Manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias.
- Patients with mutations have developed B and T-cell lymphomas.
- Peripheral blood analysis in patients has demonstrated hypergammaglobulinemia along with increased numbers of B and T lymphocytes.
- Some studies have demonstrated that ALPS is compatible with long-term survival.
Types of mutation
- Type IA is caused by heterozygous mutation in the FAS gene (TNFRSF6, or CD95)
- Type Ib is caused by heterozygous mutation in the FAS ligand (FASL) gene (TNFSF6 or CD95L)