Phenocopies of primary immunodeficiency: Difference between revisions
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==ALPS-SFAS== | ==ALPS-SFAS== | ||
*Heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. | *Heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes.<ref name="pmid20360470">{{cite journal| author=Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB et al.| title=Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. | journal=Blood | year= 2010 | volume= 115 | issue= 25 | pages= 5164-9 | pmid=20360470 | doi=10.1182/blood-2010-01-263145 | pmc=2892951 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20360470 }} </ref> | ||
*Manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias. | *Manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias.<ref name="pmid20360470">{{cite journal| author=Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB et al.| title=Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. | journal=Blood | year= 2010 | volume= 115 | issue= 25 | pages= 5164-9 | pmid=20360470 | doi=10.1182/blood-2010-01-263145 | pmc=2892951 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20360470 }} </ref> | ||
*Patients with mutations have developed B and T-cell lymphomas. | *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. | *Peripheral blood analysis in patients has demonstrated hypergammaglobulinemia along with increased numbers of B and T lymphocytes. | ||
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*Type IA is caused by heterozygous mutation in the FAS gene (TNFRSF6, or CD95) | *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) | *Type Ib is caused by heterozygous mutation in the FAS ligand (FASL) gene (TNFSF6 or CD95L) | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 15:31, 19 October 2018
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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.
- 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)
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.