Phenocopies of primary immunodeficiency: Difference between revisions

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*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>
*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.<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.<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.<ref name="pmid11418480">{{cite journal| author=Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rösen-Wolff A et al.| title=The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. | journal=Blood | year= 2001 | volume= 98 | issue= 1 | pages= 194-200 | pmid=11418480 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11418480  }} </ref>
*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.<ref name="pmid1386609">{{cite journal| author=Sneller MC, Straus SE, Jaffe ES, Jaffe JS, Fleisher TA, Stetler-Stevenson M et al.| title=A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. | journal=J Clin Invest | year= 1992 | volume= 90 | issue= 2 | pages= 334-41 | pmid=1386609 | doi=10.1172/JCI115867 | pmc=443107 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1386609  }} </ref>
*Some studies have demonstrated that ALPS is compatible with long-term survival.
*Some studies have demonstrated that ALPS is compatible with long-term survival.<ref name="pmid8929361">{{cite journal| author=Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB| title=Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. | journal=N Engl J Med | year= 1996 | volume= 335 | issue= 22 | pages= 1643-9 | pmid=8929361 | doi=10.1056/NEJM199611283352204 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8929361  }} </ref><ref name="pmid4165068">{{cite journal| author=Canale VC, Smith CH| title=Chronic lymphadenopathy simulating malignant lymphoma. | journal=J Pediatr | year= 1967 | volume= 70 | issue= 6 | pages= 891-9 | pmid=4165068 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4165068  }} </ref>


===Types of mutation===
===Types of mutation===

Revision as of 16:07, 19 October 2018

Immunodeficiency Main Page

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Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

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Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

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. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ Canale VC, Smith CH (1967). "Chronic lymphadenopathy simulating malignant lymphoma". J Pediatr. 70 (6): 891–9. PMID 4165068.
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