Phenocopies of primary immunodeficiency

Jump to navigation Jump to search

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: Sabawoon Mirwais, M.B.B.S, M.D.[2], Ali Akram, M.B.B.S.[3], Anmol Pitliya, M.B.B.S. M.D.[4]

Overview

These disorders behave and present like primary PIDs, but they are acquired secondary to the occurrence of autoantibodies or somatic mutations.[1]These conditions are not caused by inherited genetic mutations, but instead are acquired during life.

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)
 
 
 
 
Recurrent skin infections
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Hypereosinophilic syndrome due to somatic mutations in STAT5b
 
 
 
 
Pulmonary alveolar proteinosis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Acquired angioedema
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Atypical hemolytic uremic syndrome
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Thymoma with hypogammaglobulinemia
 
 
 

Autoimmune Lymphoproliferative Syndrome due to Somatic FAS Mutations (ALPS-SFAS)

RAS-Associated Autoimmune Leukoproliferative Disease (RALD)

Cryopyrinopathy (Muckle-Wells Syndrome)

Hypereosinophilic Syndrome due to Somatic Mutations in STAT5b

Chronic Mucocutaneous Candidiasis

Adult-Onset Immunodeficiency with Susceptibility to Mycobacteria

Recurrent Skin Infections

Pulmonary Alveolar Proteinosis

For more information on pulmonary alveolar proteinosis, click here.

Acquired Angioedema

Atypical Hemolytic Uremic Syndrome (aHUS)

Thymoma with Hypogammaglobulinemia (Good Syndrome)

References

  1. Raje N, Dinakar C (2015). "Overview of Immunodeficiency Disorders". Immunol Allergy Clin North Am. 35 (4): 599–623. doi:10.1016/j.iac.2015.07.001. PMC 4600970. PMID 26454309.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Canale VC, Smith CH (1967). "Chronic lymphadenopathy simulating malignant lymphoma". J Pediatr. 70 (6): 891–9. PMID 4165068.
  7. 7.0 7.1 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.
  8. 8.0 8.1 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.
  9. 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.
  10. 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.
  11. 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.
  12. Black JT (1969). "Amyloidosis, deafness, urticaria, and limb pains: a hereditary syndrome". Ann Intern Med. 70 (5): 989–94. PMID 5769632.
  13. 13.0 13.1 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 20.0 20.1 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.
  21. 21.0 21.1 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.
  22. 22.0 22.1 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.
  23. Paquet P, Piérard GE (1996). "Interleukin-6 and the skin". Int Arch Allergy Immunol. 109 (4): 308–17. doi:10.1159/000237257. PMID 8634514.
  24. 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.
  25. 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.
  26. Trapnell BC, Whitsett JA, Nakata K (2003). "Pulmonary alveolar proteinosis". N Engl J Med. 349 (26): 2527–39. doi:10.1056/NEJMra023226. PMID 14695413.
  27. 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.
  28. 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.
  29. 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.
  30. Weinstock LB, Kothari T, Sharma RN, Rosenfeld SI (1987). "Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members". Gastroenterology. 93 (5): 1116–8. PMID 3653633.
  31. Waytes AT, Rosen FS, Frank MM (1996). "Treatment of hereditary angioedema with a vapor-heated C1 inhibitor concentrate". N Engl J Med. 334 (25): 1630–4. doi:10.1056/NEJM199606203342503. PMID 8628358.
  32. Jackson J, Sim RB, Whelan A, Feighery C (1986). "An IgG autoantibody which inactivates C1-inhibitor". Nature. 323 (6090): 722–4. doi:10.1038/323722a0. PMID 3534579.
  33. Alsenz J, Bork K, Loos M (1987). "Autoantibody-mediated acquired deficiency of C1 inhibitor". N Engl J Med. 316 (22): 1360–6. doi:10.1056/NEJM198705283162202. PMID 3494945.
  34. Malbran A, Hammer CH, Frank MM, Fries LF (1988). "Acquired angioedema: observations on the mechanism of action of autoantibodies directed against C1 esterase inhibitor". J Allergy Clin Immunol. 81 (6): 1199–204. PMID 2454251.
  35. Gelfand JA, Boss GR, Conley CL, Reinhart R, Frank MM (1979). "Acquired C1 esterase inhibitor deficiency and angioedema: a review". Medicine (Baltimore). 58 (4): 321–8. PMID 449665.
  36. 36.0 36.1 36.2 Dragon-Durey MA, Sethi SK, Bagga A, Blanc C, Blouin J, Ranchin B; et al. (2010). "Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome". J Am Soc Nephrol. 21 (12): 2180–7. doi:10.1681/ASN.2010030315. PMC 3014031. PMID 21051740.
  37. Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM; et al. (1998). "Genetic studies into inherited and sporadic hemolytic uremic syndrome". Kidney Int. 53 (4): 836–44. doi:10.1111/j.1523-1755.1998.00824.x. PMID 9551389.
  38. 38.0 38.1 38.2 Hanafusa T, Umegaki N, Yamaguchi Y, Katayama I (2010). "Good's syndrome (hypogammaglobulinemia with thymoma) presenting intractable opportunistic infections and hyperkeratotic lichen planus". J Dermatol. 37 (2): 171–4. doi:10.1111/j.1346-8138.2009.00781.x. PMID 20175853.
  39. Disselhorst MJ, Dickhoff C, Alhan C (2016). "Good's syndrome: an uncommon cause of therapy-resistant diarrhoea". Neth J Med. 74 (7): 309–12. PMID 27571946.
  40. Oshikiri T, Morikawa T, Sugiura H, Katoh H (2002). "Thymoma associated with hypogammaglobulinemia (Good's syndrome): report of a case". Surg Today. 32 (3): 264–6. PMID 11991514.

Template:WH {Template:WS