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.[1]
- Manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias.[1]
- Patients with mutations have developed B and T-cell lymphomas.[2]
- Peripheral blood analysis in patients has demonstrated hypergammaglobulinemia along with increased numbers of B and T lymphocytes.[3]
- Some studies have demonstrated that ALPS is compatible with long-term survival.[4][5]
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)
References
- ↑ 1.0 1.1 Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB; et al. (2010). "Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome". Blood. 115 (25): 5164–9. doi:10.1182/blood-2010-01-263145. PMC 2892951. PMID 20360470.
- ↑ Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rösen-Wolff A; et al. (2001). "The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis". Blood. 98 (1): 194–200. PMID 11418480.
- ↑ Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M; et al. (1992). "A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease". J Clin Invest. 90 (2): 334–41. doi:10.1172/JCI115867. PMC 443107. PMID 1386609.
- ↑ Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB (1996). "Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity". N Engl J Med. 335 (22): 1643–9. doi:10.1056/NEJM199611283352204. PMID 8929361.
- ↑ Canale VC, Smith CH (1967). "Chronic lymphadenopathy simulating malignant lymphoma". J Pediatr. 70 (6): 891–9. PMID 4165068.