Phenocopies of primary immunodeficiency: Difference between revisions

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*The autoantibodies against IL-6 prevent the increase in CRP concentration during infection and the impaired IL-6 mediated immunity contributes to the disease development.<ref name="pmid18097067">{{cite journal| author=Puel A, Picard C, Lorrot M, Pons C, Chrabieh M, Lorenzo L et al.| title=Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6. | journal=J Immunol | year= 2008 | volume= 180 | issue= 1 | pages= 647-54 | pmid=18097067 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18097067  }} </ref>
*The autoantibodies against IL-6 prevent the increase in CRP concentration during infection and the impaired IL-6 mediated immunity contributes to the disease development.<ref name="pmid18097067">{{cite journal| author=Puel A, Picard C, Lorrot M, Pons C, Chrabieh M, Lorenzo L et al.| title=Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6. | journal=J Immunol | year= 2008 | volume= 180 | issue= 1 | pages= 647-54 | pmid=18097067 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18097067  }} </ref>
*Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) can also lead to cutaneous infections typically caused by Staphylococcus aureus.<ref name="pmid22751495">{{cite journal| author=Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L et al.| title=Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. | journal=Medicine (Baltimore) | year= 2012 | volume= 91 | issue= 4 | pages= e1-19 | pmid=22751495 | doi=10.1097/MD.0b013e31825f95b9 | pmc=3680355 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22751495  }} </ref>
*Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) can also lead to cutaneous infections typically caused by Staphylococcus aureus.<ref name="pmid22751495">{{cite journal| author=Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L et al.| title=Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. | journal=Medicine (Baltimore) | year= 2012 | volume= 91 | issue= 4 | pages= e1-19 | pmid=22751495 | doi=10.1097/MD.0b013e31825f95b9 | pmc=3680355 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22751495  }} </ref>
==Pulmonary alveolar proteinosis==
*It is characterized by intraalveolar surfactant accumulation.
*A severe autoimmune disease caused by autoantibodies against granulocyte–macrophage colony-stimulating factor (GM-CSF) resulting in impaired function of alveolar macrophages.<ref name="pmid26077231">{{cite journal| author=Piccoli L, Campo I, Fregni CS, Rodriguez BM, Minola A, Sallusto F et al.| title=Neutralization and clearance of GM-CSF by autoantibodies in pulmonary alveolar proteinosis. | journal=Nat Commun | year= 2015 | volume= 6 | issue=  | pages= 7375 | pmid=26077231 | doi=10.1038/ncomms8375 | pmc=4477037 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26077231  }} </ref>
*Lung biopsy shows preserved lung architecture with alveoli filled with granular, eosinophilic PAS-positive material with degenerating macrophages.<ref name="pmid14695413">{{cite journal| author=Trapnell BC, Whitsett JA, Nakata K| title=Pulmonary alveolar proteinosis. | journal=N Engl J Med | year= 2003 | volume= 349 | issue= 26 | pages= 2527-39 | pmid=14695413 | doi=10.1056/NEJMra023226 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14695413  }} </ref>
*Hereditary pulomonary alveolar proteinosis may be caused by compound heterozygous abnormalities affecting the CSF2RA gene and CSF2 signaling is critical for surfactant homeostasis in humans.<ref name="pmid18955570">{{cite journal| author=Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL et al.| title=Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA. | journal=J Exp Med | year= 2008 | volume= 205 | issue= 12 | pages= 2703-10 | pmid=18955570 | doi=10.1084/jem.20080990 | pmc=2585845 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18955570  }} </ref>
*Patients with pulomonary alveolar proteinosis can also present with cryptococcal meningitis in the setting of anti-GM-CSF autoantibodies as GM-CSF regulates the function of phagocytes and pulmonary alveolar macrophages, critical elements in cryptococcal control.<ref name="pmid29181420">{{cite journal| author=Crum-Cianflone NF, Lam PV, Ross-Walker S, Rosen LB, Holland SM| title=Autoantibodies to Granulocyte-Macrophage Colony-Stimulating Factor Associated With Severe and Unusual Manifestations of Cryptococcus gattii Infections. | journal=Open Forum Infect Dis | year= 2017 | volume= 4 | issue= 4 | pages= ofx211 | pmid=29181420 | doi=10.1093/ofid/ofx211 | pmc=5695620 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29181420  }} </ref><ref name="pmid23509356">{{cite journal| author=Rosen LB, Freeman AF, Yang LM, Jutivorakool K, Olivier KN, Angkasekwinai N et al.| title=Anti-GM-CSF autoantibodies in patients with cryptococcal meningitis. | journal=J Immunol | year= 2013 | volume= 190 | issue= 8 | pages= 3959-66 | pmid=23509356 | doi=10.4049/jimmunol.1202526 | pmc=3675663 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23509356  }} </ref>
*


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

Revision as of 17:21, 22 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

  • A disorder predominantly found in Southeast Asians.[17][18]
  • Associated with severe or disseminated infections caused by non-tuberculous mycobacteria and other opportunistic pathogens such as non-typhoidal salmonella, cytomegalovirus, varicella zoster virus and some fungi.[19][20]
  • An infection may act as an initial trigger for the production of autoantibodies with repeated infections leading to increased activity.[19][20]

Recurrent skin infections

  • Patients with recurrent staphylococcal cellulitis and subcutaneous abscesses have shown high titers of IgG1 autoantibodies against IL-6, a pleiotropic cytokine released by several important cellular lineages of the skin.[21][22]
  • The autoantibodies against IL-6 prevent the increase in CRP concentration during infection and the impaired IL-6 mediated immunity contributes to the disease development.[21]
  • Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3) can also lead to cutaneous infections typically caused by Staphylococcus aureus.[23]

Pulmonary alveolar proteinosis

  • It is characterized by intraalveolar surfactant accumulation.
  • A severe autoimmune disease caused by autoantibodies against granulocyte–macrophage colony-stimulating factor (GM-CSF) resulting in impaired function of alveolar macrophages.[24]
  • Lung biopsy shows preserved lung architecture with alveoli filled with granular, eosinophilic PAS-positive material with degenerating macrophages.[25]
  • Hereditary pulomonary alveolar proteinosis may be caused by compound heterozygous abnormalities affecting the CSF2RA gene and CSF2 signaling is critical for surfactant homeostasis in humans.[26]
  • Patients with pulomonary alveolar proteinosis can also present with cryptococcal meningitis in the setting of anti-GM-CSF autoantibodies as GM-CSF regulates the function of phagocytes and pulmonary alveolar macrophages, critical elements in cryptococcal control.[27][28]

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. ↑ Chan JF, Trendell-Smith NJ, Chan JC, Hung IF, Tang BS, Cheng VC; et al. (2013). "Reactive and infective dermatoses associated with adult-onset immunodeficiency due to anti-interferon-gamma autoantibody: Sweet's syndrome and beyond". Dermatology. 226 (2): 157–66. doi:10.1159/000347112. PMID 23652167.
  18. ↑ Pithukpakorn M, Roothumnong E, Angkasekwinai N, Suktitipat B, Assawamakin A, Luangwedchakarn V; et al. (2015). "HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies". PLoS One. 10 (5): e0128481. doi:10.1371/journal.pone.0128481. PMC 4444022. PMID 26011559.
  19. ↑ 19.0 19.1 Browne SK, Burbelo PD, Chetchotisakd P, Suputtamongkol Y, Kiertiburanakul S, Shaw PA; et al. (2012). "Adult-onset immunodeficiency in Thailand and Taiwan". N Engl J Med. 367 (8): 725–34. doi:10.1056/NEJMoa1111160. PMC 4190026. PMID 22913682.
  20. ↑ 20.0 20.1 Browne SK, Zaman R, Sampaio EP, Jutivorakool K, Rosen LB, Ding L; et al. (2012). "Anti-CD20 (rituximab) therapy for anti-IFN-γ autoantibody-associated nontuberculous mycobacterial infection". Blood. 119 (17): 3933–9. doi:10.1182/blood-2011-12-395707. PMC 3350360. PMID 22403254.
  21. ↑ 21.0 21.1 Puel A, Picard C, Lorrot M, Pons C, Chrabieh M, Lorenzo L; et al. (2008). "Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6". J Immunol. 180 (1): 647–54. PMID 18097067.
  22. ↑ Paquet P, Piérard GE (1996). "Interleukin-6 and the skin". Int Arch Allergy Immunol. 109 (4): 308–17. doi:10.1159/000237257. PMID 8634514.
  23. ↑ Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L; et al. (2012). "Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey". Medicine (Baltimore). 91 (4): e1–19. doi:10.1097/MD.0b013e31825f95b9. PMC 3680355. PMID 22751495.
  24. ↑ Piccoli L, Campo I, Fregni CS, Rodriguez BM, Minola A, Sallusto F; et al. (2015). "Neutralization and clearance of GM-CSF by autoantibodies in pulmonary alveolar proteinosis". Nat Commun. 6: 7375. doi:10.1038/ncomms8375. PMC 4477037. PMID 26077231.
  25. ↑ Trapnell BC, Whitsett JA, Nakata K (2003). "Pulmonary alveolar proteinosis". N Engl J Med. 349 (26): 2527–39. doi:10.1056/NEJMra023226. PMID 14695413.
  26. ↑ Suzuki T, Sakagami T, Rubin BK, Nogee LM, Wood RE, Zimmerman SL; et al. (2008). "Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA". J Exp Med. 205 (12): 2703–10. doi:10.1084/jem.20080990. PMC 2585845. PMID 18955570.
  27. ↑ Crum-Cianflone NF, Lam PV, Ross-Walker S, Rosen LB, Holland SM (2017). "Autoantibodies to Granulocyte-Macrophage Colony-Stimulating Factor Associated With Severe and Unusual Manifestations of Cryptococcus gattii Infections". Open Forum Infect Dis. 4 (4): ofx211. doi:10.1093/ofid/ofx211. PMC 5695620. PMID 29181420.
  28. ↑ Rosen LB, Freeman AF, Yang LM, Jutivorakool K, Olivier KN, Angkasekwinai N; et al. (2013). "Anti-GM-CSF autoantibodies in patients with cryptococcal meningitis". J Immunol. 190 (8): 3959–66. doi:10.4049/jimmunol.1202526. PMC 3675663. PMID 23509356.
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