Phenocopies of primary immunodeficiency: Difference between revisions

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*Can also be associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome which is driven by Mutations in AIRE (autoimmune regulator).<ref name="pmid2348835">{{cite journal| author=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J| title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 26 | pages= 1829-36 | pmid=2348835 | doi=10.1056/NEJM199006283222601 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2348835  }} </ref><ref name="pmid9398839">{{cite journal| author=Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M et al.| title=Positional cloning of the APECED gene. | journal=Nat Genet | year= 1997 | volume= 17 | issue= 4 | pages= 393-8 | pmid=9398839 | doi=10.1038/ng1297-393 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9398839  }} </ref><ref name="pmid9398840">{{cite journal| author=Finnish-German APECED Consortium| title=An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. | journal=Nat Genet | year= 1997 | volume= 17 | issue= 4 | pages= 399-403 | pmid=9398840 | doi=10.1038/ng1297-399 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9398840  }} </ref>
*Can also be associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome which is driven by Mutations in AIRE (autoimmune regulator).<ref name="pmid2348835">{{cite journal| author=Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J| title=Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. | journal=N Engl J Med | year= 1990 | volume= 322 | issue= 26 | pages= 1829-36 | pmid=2348835 | doi=10.1056/NEJM199006283222601 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2348835  }} </ref><ref name="pmid9398839">{{cite journal| author=Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M et al.| title=Positional cloning of the APECED gene. | journal=Nat Genet | year= 1997 | volume= 17 | issue= 4 | pages= 393-8 | pmid=9398839 | doi=10.1038/ng1297-393 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9398839  }} </ref><ref name="pmid9398840">{{cite journal| author=Finnish-German APECED Consortium| title=An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. | journal=Nat Genet | year= 1997 | volume= 17 | issue= 4 | pages= 399-403 | pmid=9398840 | doi=10.1038/ng1297-399 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9398840  }} </ref>
*High titers of neutralizing autoantibodies against IL-17 and/or IL-22 are also detected.<ref name="pmid20123958">{{cite journal| author=Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C et al.| title=Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. | journal=J Exp Med | year= 2010 | volume= 207 | issue= 2 | pages= 291-7 | pmid=20123958 | doi=10.1084/jem.20091983 | pmc=2822614 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20123958  }} </ref>
*High titers of neutralizing autoantibodies against IL-17 and/or IL-22 are also detected.<ref name="pmid20123958">{{cite journal| author=Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C et al.| title=Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. | journal=J Exp Med | year= 2010 | volume= 207 | issue= 2 | pages= 291-7 | pmid=20123958 | doi=10.1084/jem.20091983 | pmc=2822614 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20123958  }} </ref>
==Adult-onset immunodeficiency with susceptibility to mycobacteria==
*There is significant role for genetic variation in IFNG in susceptibility to TB.<ref name="pmid16690980">{{cite journal| author=Cooke GS, Campbell SJ, Sillah J, Gustafson P, Bah B, Sirugo G et al.| title=Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis. | journal=Am J Respir Crit Care Med | year= 2006 | volume= 174 | issue= 3 | pages= 339-43 | pmid=16690980 | doi=10.1164/rccm.200601-088OC | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16690980  }} </ref>


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 20:43, 19 October 2018

Immunodeficiency Main Page

Home

Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

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)

RALD(RAS-associated autoimmune leukoproliferative disease)

  • Originally considered a subtype of RAS due to the significant overlap.[6][7]
  • A leukoproliferative disorder characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia.[6][7]
  • Some patients have recurrent infections with increased risk of hematologic malignancy.[6][7]

Mutated genes

  • NRAS and KRAS

Cryopyrinopathy(Muckle-Wells Syndrome)

  • Caused by heterozygous mutation in the gene encoding cryopyrin (NLRP3) and the locus identified at chromosome 1q44.[8][9]
  • Characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis.[10]
  • Limb pains emphasized on as a feature.[11]

Hypereosinophilic syndrome due to somatic mutations in STAT5b

  • Characterized by atopic dermatitis, urticarial rash, diarrhea and eosinophilia

Chronic mucocutaneous candidiasis

  • Includes a group of rare disorders with altered immune responses, selective against Candida.[12]
  • Characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused mainly by Candida albicans.[12]
  • Can also be associated with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome which is driven by Mutations in AIRE (autoimmune regulator).[13][14][15]
  • High titers of neutralizing autoantibodies against IL-17 and/or IL-22 are also detected.[16]

Adult-onset immunodeficiency with susceptibility to mycobacteria

  • There is significant role for genetic variation in IFNG in susceptibility to TB.[17]

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.
  6. ↑ 6.0 6.1 6.2 Oliveira JB (2013). "The expanding spectrum of the autoimmune lymphoproliferative syndromes". Curr Opin Pediatr. 25 (6): 722–9. doi:10.1097/MOP.0000000000000032. PMC 4435794. PMID 24240292.
  7. ↑ 7.0 7.1 7.2 Niemela JE, Lu L, Fleisher TA, Davis J, Caminha I, Natter M; et al. (2011). "Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis". Blood. 117 (10): 2883–6. doi:10.1182/blood-2010-07-295501. PMC 3062298. PMID 21079152.
  8. ↑ Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome". Nat Genet. 29 (3): 301–5. doi:10.1038/ng756. PMC 4322000. PMID 11687797.
  9. ↑ Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA; et al. (1999). "Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44". Am J Hum Genet. 65 (4): 1054–9. doi:10.1086/302589. PMC 1288238. PMID 10486324.
  10. ↑ Dodé C, Le Dû N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G; et al. (2002). "New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes". Am J Hum Genet. 70 (6): 1498–506. PMC 379138. PMID 11992256.
  11. ↑ Black JT (1969). "Amyloidosis, deafness, urticaria, and limb pains: a hereditary syndrome". Ann Intern Med. 70 (5): 989–94. PMID 5769632.
  12. ↑ 12.0 12.1 Zuccarello D, Salpietro DC, Gangemi S, Toscano V, Merlino MV, Briuglia S; et al. (2002). "Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis". J Med Genet. 39 (9): 671–5. PMC 1735231. PMID 12205111.
  13. ↑ Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J (1990). "Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients". N Engl J Med. 322 (26): 1829–36. doi:10.1056/NEJM199006283222601. PMID 2348835.
  14. ↑ Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M; et al. (1997). "Positional cloning of the APECED gene". Nat Genet. 17 (4): 393–8. doi:10.1038/ng1297-393. PMID 9398839.
  15. ↑ Finnish-German APECED Consortium (1997). "An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains". Nat Genet. 17 (4): 399–403. doi:10.1038/ng1297-399. PMID 9398840.
  16. ↑ Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C; et al. (2010). "Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I." J Exp Med. 207 (2): 291–7. doi:10.1084/jem.20091983. PMC 2822614. PMID 20123958.
  17. ↑ Cooke GS, Campbell SJ, Sillah J, Gustafson P, Bah B, Sirugo G; et al. (2006). "Polymorphism within the interferon-gamma/receptor complex is associated with pulmonary tuberculosis". Am J Respir Crit Care Med. 174 (3): 339–43. doi:10.1164/rccm.200601-088OC. PMID 16690980.
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