Phenocopies of primary immunodeficiency: Difference between revisions
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{{Family tree | |)| C03 | | | |)| D03 | |C03=Cryopyrinopathy (Muckle-Wells Syndrome)|D03=Recurrent skin infections}} | {{Family tree | |)| C03 | | | |)| D03 | |C03=Cryopyrinopathy (Muckle-Wells Syndrome)|D03=Recurrent skin infections}} | ||
{{Family tree | |!| | | | | | |!| | | | | |}} | {{Family tree | |!| | | | | | |!| | | | | |}} | ||
{{Family tree | |`| C04 | | | |)| D04 | | |C04=Hypereosinophilic syndrome due to somatic mutations in STAT5b|D04=Pulmonary alveolar proteinosis}} | {{Family tree | |`| C04 | | | |)| D04 | | |C04=[[Hypereosinophilic syndrome|Hypereosinophilic syndrome due to somatic mutations in STAT5b]]|D04=[[Pulmonary alveolar proteinosis]]}} | ||
{{Family tree | | | | | | | | |!| | | | | |}} | {{Family tree | | | | | | | | |!| | | | | |}} | ||
{{Family tree | | | | | | | | |)| D05 | | |D05=Acquired angioedema}} | {{Family tree | | | | | | | | |)| D05 | | |D05=[[Angioedema|Acquired angioedema]]}} | ||
{{Family tree | | | | | | | | |!| | | | | |}} | {{Family tree | | | | | | | | |!| | | | | |}} | ||
{{Family tree | | | | | | | | |)| D06 | | |D06=Atypical hemolytic uremic syndrome}} | {{Family tree | | | | | | | | |)| D06 | | |D06=[[Hemolytic uremic syndrome|Atypical hemolytic uremic syndrome]]}} | ||
{{Family tree | | | | | | | | |!| | | | | |}} | {{Family tree | | | | | | | | |!| | | | | |}} | ||
{{Family tree | | | | | | | | |`| D07 | | |D07=Thymoma with hypogammaglobulinemia}} | {{Family tree | | | | | | | | |`| D07 | | |D07=[[Thymoma|Thymoma with hypogammaglobulinemia]]}} | ||
{{Family tree/end}} | {{Family tree/end}} | ||
Revision as of 15:22, 23 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: 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
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)
- ALPS-SFAS is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes.[1]
- Manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias.
- 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]
RAS-Associated Autoimmune Leukoproliferative Disease (RALD)
- RALD is 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 involved include NRAS and KRAS.
Cryopyrinopathy (Muckle-Wells Syndrome)
- Cryopyrinopathy is 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
- Hypereosinophilic syndrome due to somatic mutations in STAT5b is characterized by atopic dermatitis, urticarial rash, diarrhea and eosinophilia
Chronic Mucocutaneous Candidiasis
- 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
- Adult-onset immunodeficiency with susceptibility to mycobacteria is 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 C-reactive protein (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
- Pulmonary alveolar proteinosis is characterized by intra-alveolar 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 pulmonary alveolar proteinosis may be caused by compound heterozygous abnormalities affecting the CSF2RA gene and CSF2 signaling, critical for surfactant homeostasis in humans.[26]
- Patients with pulmonary 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]
For more information on pulmonary alveolar proteinosis, click here.
Acquired Angioedema
- Acquired angioedema is rare disorder that causes recurrent episodes of swelling (edema) of the face or body.
- The edema can involve the lining of the digestive tract causing abdominal pain and may require unnecessary laparotomy. It can also involve the upper airway, which can be life-threatening.[29][30]
- It can occur due to the deficiency of C1 inhibitor in the setting of autoantibodies against it.[31][32][33]
- It has been associated with benign or malignant B-cell lymphoproliferative disorders such as chronic lymphocytic leukemia, multiple myeloma, or essential cryoglobulinemia.[34]
Atypical Hemolytic Uremic Syndrome (aHUS)
- Atypical hemolytic uremic syndrome is a rare form of thrombotic microangiopathy that associates, in 70% of cases, with genetic or acquired disorders leading to dysregulation of the alternative complement pathway.[35]
- It can present with anemia, thrombocytopenia, hypertension, and acute renal failure. Renal biopsy shows a thrombotic microangiopathy and deposition of complement component C3 in vessel walls.[36]
- Autoantibodies against factor H causes at least 6% to 10% of aHUS cases.[35]
- aHUS in the setting of antibodies against factor H primarily affects children between 9 and 13 years old but it also affects adults.[35]
Thymoma with Hypogammaglobulinemia (Good Syndrome)
- Good syndrome is a rare acquired combined T- and B-cell immunodeficiency associated with thymoma.[37]
- It can present with intractable opportunistic infections, lichen planus and therapy resistant secretory diarrhea.[37][38]
- Laboratory examination results indicate hypogammaglobulinemia and complete absence or decrease in the proportion of cells bearing B cells markers.[37][39]
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Canale VC, Smith CH (1967). "Chronic lymphadenopathy simulating malignant lymphoma". J Pediatr. 70 (6): 891–9. PMID 4165068.
- ↑ 6.0 6.1 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.
- ↑ 7.0 7.1 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Black JT (1969). "Amyloidosis, deafness, urticaria, and limb pains: a hereditary syndrome". Ann Intern Med. 70 (5): 989–94. PMID 5769632.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 19.0 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.
- ↑ 20.0 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.
- ↑ 21.0 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.
- ↑ Paquet P, Piérard GE (1996). "Interleukin-6 and the skin". Int Arch Allergy Immunol. 109 (4): 308–17. doi:10.1159/000237257. PMID 8634514.
- ↑ 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.
- ↑ 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.
- ↑ Trapnell BC, Whitsett JA, Nakata K (2003). "Pulmonary alveolar proteinosis". N Engl J Med. 349 (26): 2527–39. doi:10.1056/NEJMra023226. PMID 14695413.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 35.0 35.1 35.2 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.
- ↑ 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.
- ↑ 37.0 37.1 37.2 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.
- ↑ 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.
- ↑ 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.