A phenocopy is defined as a clinical non-inherited phenotype in an indi-vidual, with environmental induction, which is identical to the genetically determined phenotype of another. Until February 2017, the IUIS (Interna-tional Union of Immunological Societies) reported in its classification 354 innate immunity errors and a final group (classification table IX) with con-ditions that are not part of the innate alterations and are called phenocopies. These are classified into two types, the associated with somatic mutations and those associated with auto-antibodies. The phenotypes that occur by any of the mechanisms mentioned are complex and varied. It is necessary to know the clinical manifestations of the pathologies classified in this group to enrich the possible differential diagnoses in individuals with suspected immunodeficiency.
Cite this paper
Alonso-Bello, C. D. , Espinosa-Padilla, S. E. , Temix-Delfin, M. D. , Lozano-Patino, F. , Castaneda-Avila, V. I. , Vargas-Camano, M. E. and Castrejón-Vázquez, M. I. (2020). Phenocopies: Mimics of Inborn Errors of Immunity. Open Access Library Journal, 7, e6041. doi: http://dx.doi.org/10.4236/oalib.1106041.
Baum, P., Schmid, R., Ittrich, C., Rust, W., Fundel-Clemens, K., Siewert, S., et al. (2010) Phenocopy—A Strategy to Qualify Chemical Compounds during Hit-to-Lead and/or Lead Optimization. PLoS ONE, 5, e14272. https://doi.org/10.1371/journal.pone.0014272
Lescai, F. and Franceschi, C. (2010) The Impact of Phenocopy on the Genetic Analysis of Complex Traits. PLoS ONE, 5, e11876. https://doi.org/10.1371/journal.pone.0011876
Bousfiha, A., Jeddane, L., Picard, C., Ailal, F., Bobby-Gaspar, H., Al-Herz, W., et al. (2018) The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. Journal of Clinical Immunology, 38, 129-143. https://doi.org/10.1007/s10875-017-0465-8
Picard, C., Bobby-Gaspar, H., Al-Herz, W., Bousfiha, A., Casanova, J.L., Chatila, T., et al. (2018) International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. Journal of Clinical Immunology, 38, 96-128. https://doi.org/10.1007/s10875-017-0464-9
Milholland, B., Dong, X., Zhang, L., Hao, X., Suh, Y. and Vijg, J. (2017) Differences between Germline and Somatic Mutation Rates in Humans and Mice. Nature Communications, 8, Article No. 15183. https://doi.org/10.1038/ncomms15183
Nabhani, S., Honscheid, A., Oommen, P.T., Fleckenstein, B., Schaper, J., Kuhlen, M., et al. (2014) A Novel Homozygous Fas Ligand Mutation Leads to Early Protein Truncation, Abrogation of Death Receptor and Reverse Signaling and a Severe Form of the Autoimmune Lymphoproliferative Syndrome. Clinical Immunology, 155, 231-237. https://doi.org/10.1016/j.clim.2014.10.006
Li, P., Huang, P., Yang, Y., Hao, M., Peng, H. and Li, F. (2016) Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). Clinical Reviews in Allergy & Immunology, 50, 55-63. https://doi.org/10.1007/s12016-015-8466-y
Palmisani, E., Miano, M., Micalizzi, C., Calvillo, M., Pierri, F., Terranova, P., et al. (2019) Clinical Features and Therapeutic Challenges of Cytopenias Belonging to Alps and Alps-Related (ARS) Phenotype. British Journal of Haematology, 184, 861-864. https://doi.org/10.1111/bjh.15178
Holzelova, E., Vonarbourg, C., Stolzenberg, M.C., Arkwright, P.D., Selz, F., Prieur, A.M., et al. (2004) Autoimmune Lymphoproliferative Syndrome with Somatic Fas Mutations. The New England Journal of Medicine, 351, 1409-1418. https://doi.org/10.1056/NEJMoa040036
Martínez-Feito, A., Melero, J., Mora-Díaz, S., Rodríguez-Vigil, C., Elduayen, R., González-Granado, L.I., et al. (2016) Autoimmune Lymphoproliferative Syndrome Due to Somatic FAS Mutation (ALPS-sFAS) Combined with a Germline Caspase-10 (CASP10) Variation. Immunobiology, 221, 40-47. https://doi.org/10.1016/j.imbio.2015.08.004
García-García, G.M., Bureo-Dacal, J.C., Suárez-Varela Pineda, S. and Elduayen Izaguirre, R. (2015) Adult Onset Autoimmune Lymphoproliferative Syndrome Due to Somatic FAS Mutation. Internal Medicine Journal, 45, 462-464. https://doi.org/10.1111/imj.12714
Rieux-Laucat, F., Magérus-Chatinet, A. and Neven, B. (2018) The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. Journal of Clinical Immunology, 38, 558-568. https://doi.org/10.1007/s10875-018-0523-x
Barzaghi, F., Minniti, F., Mauro, M., Bortoli, M.D., Balter, R., Bonetti, E., et al. (2019) ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation. Frontiers in Immunology, 9, 2767. https://doi.org/10.3389/fimmu.2018.02767
Oliveira, J.B., Bidere, N., Niemela, J.E., Zheng, L., Sakai, K., Nix, C.P., et al. (2007) NRAS Mutation Causes a Human Autoimmune Lymphoproliferative Syndrome. Proceedings of the National Academy of Sciences, 104, 8953-8958. https://doi.org/10.1073/pnas.0702975104
Ma, P., Magut, M., Faller, D.V. and Chen, C.Y. (2002) The Role of Ras in T Lymphocyte Activation. Cellular Signalling, 14, 849-859. https://doi.org/10.1016/S0898-6568(02)00029-3
Ragotte, R.J., Dhanrajani, A., Pleydell-Pearce, J., Del Bel, K.L., Tarailo-Graovac, M., van Karnebeek, C., et al. (2017) The Importance of Considering Monogenic Causes of Au-toimmunity: A Somatic Mutation in KRAS Causing Pediatric Rosai-Dorfman Syndrome and Systemic Lupus Erythematosus. Clinical Immunology, 175, 143-146. https://doi.org/10.1016/j.clim.2016.12.006
Scheffzek, K., Ahmadian, M.R., Kabsch, W., Wiesmüller, L., Lautwein, A., Schmitz, F., et al. (1997) The Ras-RasGAP Complex: Structural Basis for GTPase Activation and Its Loss in Oncogenic Ras Mutants. Science, 277, 333-338. https://doi.org/10.1126/science.277.5324.333
Giacaman, A., Bauzá-Alonso, A., Salinas-Sanz, J.A., Dapena-Díaz, J.L., Ramos-Asensio, R., Ferrés-Ramis, L., et al. (2018) Cutaneous Involvement in an 8-Year-Old Boy with Ras-Associated Autoimmune Leucoproliferative Disorder (RALD). Clinical and Experimental Dermatology, 43, 913-916. https://doi.org/10.1111/ced.13668
Takagi, M., Shinoda, K., Piao, J., Mitsuiki, N., Takagi, M., Matsuda, K., et al. (2011) Autoimmune Lymphoproliferative Syndrome-Like Disease with Somatic KRAS Mutation. Blood, 117, 2887-2890. https://doi.org/10.1182/blood-2010-08-301515
Wang, W., Zhou, Y., Zhong, L., Wang, L., Tang, X., Ma, M., et al. (2019) RAS-Associated Autoimmune Leukoproliferative Disease (RALD) Manifested with Early-Onset SLE-Like Syndrome: A Case Series of RALD in Chinese Children. Pediatric Rheumatology, 17, 55. https://doi.org/10.1186/s12969-019-0346-1
Toyoda, H., Deguchi, T., Iwamoto, S., Kihira, K., Hori, H., Komada, Y., et al. (2018) Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated with RAS-Associated Autoimmune Leukoproliferative Disease. Journal of Pediatric Hematology/Oncology, 40, e516-e518. https://doi.org/10.1097/MPH.0000000000001276
Federici, S., Vanoni, F., Ben-Chetrit, E., Cantarini, L., Frenkel, J., Goldbach-Mansky, R., et al. (2019) An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-Associated Periodic Fever Syndromes, and Cryopyrin-Associated Periodic Syndrome. The Journal of Rheumatology, 46, 429-436. https://doi.org/10.3899/jrheum.180056
Bertoni, A., Carta, S., Baldovini, C., Penco, F., Balza, E., Borghini, S., et al. (2019)A Novel Knock-In Mouse Model of Cryopyrin-Associated Periodic Syndromes with Development of Amyloidosis: Therapeutic Efficacy of Proton Pump Inhibitors. Journal of Allergy and Clinical Immunology, 2019, S0091674919307572.
Keddie, S., Parker, T., Lachmann, H.J. and Ginsberg, L. (2018) Cryopyrin-Associated Periodic Fever Syndrome and the Nervous System. Current Treatment Options in Neurology, 20, 43. https://doi.org/10.1007/s11940-018-0526-1
Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., et al. (2019) Classification Criteria for Autoinflammatory Recurrent Fevers. Annals of the Rheumatic Diseases, 78, 1025-1032. https://doi.org/10.1136/annrheumdis-2019-215048
Behringer, J., Ryan, M., Miller, M. and Jaju, A. (2019) Magnetic Resonance Imaging Findings in a Patient with Cryopyrin-Associated Periodic Syndrome: A Rare Hereditary Multi-System Inflammatory Disorder. The Neuroradiology Journal. https://doi.org/10.1177/1971400919863712
Kilic, H., Sahin, S., Duman, C., Adrovic, A., Barut, K., Turanli, E.T., et al. (2019) Spectrum of the Neurologic Manifestations in Childhood-Onset Cryopyrin-Associated Periodic Syndrome. European Journal of Paediatric Neurology, 23, 466-472. https://doi.org/10.1016/j.ejpn.2019.03.006
Nakagawa, K., Gonzalez-Roca, E., Souto, A., Kawai, T., Umebayashi, H., Campistol, J.M., et al. (2015) Somatic NLRP3 Mosaicism in Muckle-Wells Syndrome. A Genetic Mechanism Shared by Different Phenotypes of Cryopyrin-Associated Periodic Syndromes. Annals of the Rheumatic Diseases, 74, 603-610. https://doi.org/10.1136/annrheumdis-2013-204361
Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., et al. (2017) Cryopyrin-Associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization. The Journal of Rheumatology, 44, 1667-1673. https://doi.org/10.3899/jrheum.170041
Eskola, V., Pohjankoski, H., Kroger, L., Aalto, K., Latva, K. and Korppi, M. (2018) Cryopyrin-Associated Periodic Syndrome in Early Childhood Can Be Successfully Treated with Interleukin-1 Blockades. Acta Paediatrica, 107, 577-580.
https://doi.org/10.1111/apa.14217
Elmi, A.A., Wynne, K., Cheng, I.L., Eleftheriou, D., Lachmann, H.J., Hawkins, P.N., et al. (2019) Retrospective Case Series Describing the Efficacy, Safety and Cost-Effectiveness of a Vial-Sharing Programme for Canakinumab Treatment for Paediatric Patients with Cryopyrin-Associated Periodic Syndrome. Pediatric Rheumatology, 17, 36. https://doi.org/10.1186/s12969-019-0335-4
Marchica, C., Zawawi, F., Basodan, D., Scuccimarri, R. and Daniel, S.J. (2018) Resolution of Unilateral Sensorineural Hearing Loss in a Pediatric Patient with a Severe Phenotype of Muckle-Wells Syndrome Treated with Anakinra: A Case Report and Review of the Literature. Journal of Otolaryngology—Head & Neck Surgery, 47, 9. https://doi.org/10.1186/s40463-018-0256-0
Iida, Y., Wakiguchi, H., Okazaki, F., Nakamura, T., Yasudo, H., Kubo, M., et al. (2019) Early Canakinumab Therapy for the Sensorineural Deafness in a Family with Muckle-Wells Syndrome Due to a Novel Mutation of NLRP3 Gene. Clinical Rheumatology, 38, 943-948. https://doi.org/10.1007/s10067-018-4331-8
Brogan, P.A., Hofer, M., Kuemmerle-Deschner, J.B., Koné-Paut, I., Roesler, J., Kallinich, T., et al. (2019) Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients with Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger. Arthritis & Rheumatology, 71, 1955-1963. https://doi.org/10.1002/art.41004
Mulders-Manders, C.M., Kanters, T.A., van Daele, P.L.A., Hoppenreijs, E., Legger, G.E., van Laar, J.A.M., et al. (2018) Decreased Quality of Life and Societal Impact of Cryopyrin-Associated Periodic Syndrome Treated with Canakinumab: A Questionnaire Based Cohort Study. Orphanet Journal of Rare Diseases, 13, 59. https://doi.org/10.1186/s13023-018-0799-1
Lorenzini, T., Dotta, L., Giacomelli, M., Vairo, D. and Badolato, R. (2017) STAT Mutations as Program Switchers: Turning Primary Immunodeficiencies into Autoimmune Diseases. Journal of Leukocyte Biology, 101, 29-38. https://doi.org/10.1189/jlb.5RI0516-237RR
Hwa, V. (2016) STAT5B Deficiency: Impacts on Human Growth and Immunity. Growth Hormone & IGF Research, 28, 16-20. https://doi.org/10.1016/j.ghir.2015.12.006
Haapaniemi, E.M., Kaustio, M., Rajala, H.L.M., van Adrichem, A.J., Kainulainen, L., Glumoff, V., et al. (2015) Autoimmunity, Hypogammaglobulinemia, Lymphoproliferation, and Mycobacterial Disease in Patients with Activating Mutations in STAT3. Blood, 125, 639-648. https://doi.org/10.1182/blood-2014-04-570101
Blake, S.J. and Teng, M.W.L. (2014) Role of IL-17 and IL-22 in Autoimmunity and Cancer. Actas Dermo-Sifiliográficas, 105, 41-50. https://doi.org/10.1016/S0001-7310(14)70017-1
Amatya, N., Garg, A.V. and Gaffen, S.L. (2017) IL-17 Signaling: The Yin and the Yang. Trends in Immunology, 38, 310-322. https://doi.org/10.1016/j.it.2017.01.006
Capalbom, D., De Martinom, L., Giardino, G., Di Mase, R., Di Donato, I., Parenti, G., et al. (2012) Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation. International Journal of Endocrinology, 2012, Article ID: 353250. https://doi.org/10.1155/2012/353250
Guo, C.J., Leung, P.S.C., Zhang, W., Ma, X. and Gershwin, M.E. (2018) Theim-munobiology and Clinical Features of Type 1 Autoimmune Polyglandular Syndrome (APS-1). Autoimmunity Reviews, 17, 78-85. https://doi.org/10.1016/j.autrev.2017.11.012
Yamazaki, Y., Yamada, M., Kawai, T., Morio, T., Onodera, M., Ueki, M., et al. (2014) Two Novel Gain-of-Function Mutations of STAT1 Responsible for Chronic Mucocutaneous Candidiasis Disease: Impaired Production of IL-17A and IL-22, and the Presence of Anti-IL-17F Autoantibody. The Journal of Immunology, 193, 4880-4887. https://doi.org/10.4049/jimmunol.1401467
Sarkadi, A.K., Taskó, S., Csorba, G., Tóth, B., Erdos, M. and Maródi, L. (2014) Autoantibodies to IL-17A May Be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients. Journal of Clinical Immunology, 34, 181-193.
https://doi.org/10.1007/s10875-014-9987-5
Ng, W.F., von Delwig, A., Carmichael, A.J., Arkwright, P.D., Abinun, M., Cant, A.J., et al. (2010) Impaired TH17 Responses in Patients with Chronic Mucocutaneous Candidiasis with and without Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Journal of Allergy and Clinical Immunol-ogy, 126, 1006-1015.e4. https://doi.org/10.1016/j.jaci.2010.08.027
Karner, J., Meager, A., Laan, M., Maslovskaja, J., Pihlap, M., Remm, A., et al. (2013) Anti-Cytokine Autoantibodies Suggest Pathogenetic Links with Autoimmune Regulator Deficiency in Humans and Mice: Anti-Cytokine Autoantibodies in Mice and Humans. Clinical & Experimental Immunology, 171, 263-272.
https://doi.org/10.1111/cei.12024
Kisand, K., Boe-Wolff, A.S., Podkrajsek, K.T., Tserel, L., Link, M., Kisand, K.V., et al. (2010) Chronic Mucocutaneous Candidiasis in APECED or Thymoma Patients Correlates with Autoimmunity to Th17-Associated Cytokines. Journal of Experimental Medicine, 207, 299-308. https://doi.org/10.1084/jem.20091669
Browne, S.K. and Holland, S.M. (2010) Immunodeficiency Secondary to Anticytokine Autoantibodies. Current Opinion in Allergy and Clinical Immunology, 10, 534-541. https://doi.org/10.1097/ACI.0b013e3283402b41
Yasamut, U., Thongkum, W., Moonmuang, S., Sakkhachornphop, S., Chaiwarith, R., Praparattanapan, J., et al. (2019) Neutralizing Activity of Anti-Interferon-γ Autoantibodies in Adult-Onset Immunodeficiency Is Associated with Their Binding Domains. Frontiers in Immunology, 10, 1905. https://doi.org/10.3389/fimmu.2019.01905
Merkel, P.A., Lebo, T. and Knight, V. (2019) Functional Analysis of Anti-Cytokine Autoantibodies Using Flow Cytometry. Frontiers in Immunology, 10, 1517. https://doi.org/10.3389/fimmu.2019.01517
Jutivorakool, K., Sittiwattanawong, P., Kantikosum, K., Hurst, C., Kumtornrut, C., Asawanonda, P., et al. (2018) Skin Manifestations in Patients with Adult-Onset Immunodeficiency Due to Anti-Interferon-Gamma Autoantibody: A Relationship with Systemic Infections. Acta Dermato-Venereologica, 98, 742-747. https://doi.org/10.2340/00015555-2959
Hong, G.H., Ortega-Villa, A.M., Hunsberger, S., Chetchotisakd, P., Anunnatsiri, S., Mootsikapun, P., et al. (2019) Natural History and Evolution of Anti-Interferon-γ Autoantibody-Associated Immunodeficiency Syndrome in Thailand and the US. Clinical Infectious Diseases, ciz786. https://doi.org/10.1093/cid/ciz786
Garbers, C., Aparicio-Siegmund, S. and Rose-John, S. (2015) The IL-6/gp130/STAT3 Signaling Axis: Recent Advances towards Specific Inhibition. Current Opinion in Immunology, 34, 75-82. https://doi.org/10.1016/j.coi.2015.02.008
Tanaka, T., Narazaki, M. and Kishimoto, T. (2014) IL-6 in Inflammation, Immunity, and Disease. Cold Spring Harbor Perspectives in Biology, 6, a016295. https://doi.org/10.1101/cshperspect.a016295
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. The Journal of Immunology, 180, 647-654. https://doi.org/10.4049/jimmunol.180.1.647
Fosgerau, K., Galle, P., Hansen, T., Albrechtsen, A., Rieper, C. de L., Pedersen, B.K., et al. (2010) Interleukin-6 Autoantibodies Are Involved in the Pathogenesis of a Subset of Type 2 Diabetes. Journal of Endocrinology, 204, 265-273. https://doi.org/10.1677/JOE-09-0413
Karner, J., Pihlap, M., Ranki, A., Krohn, K., Trebusak-Podkrajsek, K., Bratanic, N., et al. (2016) IL-6-Specific Autoantibodies among APECED and Thymoma Patients. Immunity, Inflammation and Disease, 4, 235-243. https://doi.org/10.1002/iid3.109
Hansen, M.B., Svenson, M., Diamant, M. and Bendtzen, K. (1991) Anti-Interleukin-6 Antibodies in Normal Human Serum. Scandinavian Journal of Immunology, 33, 777-781. https://doi.org/10.1111/j.1365-3083.1991.tb02552.x
Barcenas-Morales, G., Cortes-Acevedo, P. and Doffinger, R. (2019) Anticytokine Autoantibodies Leading to Infection: Early Recognition, Diagnosis and Treatment Options. Current Opinion in Infectious Diseases, 32, 330-336. https://doi.org/10.1097/QCO.0000000000000561
Kumar, A., Abdelmalak, B., Inoue, Y. and Culver, D.A. (2018) Pulmonary Alveolar Proteinosis in Adults: Pathophysiology and Clinical Approach. The Lancet Respiratory Medicine, 6, 554-565. https://doi.org/10.1016/S2213-2600(18)30043-2
Bonella, F., Bauer, P.C., Griese, M., Ohshimo, S., Guzman, J. and Costabel, U. (2011) Pulmonary Alveolar Proteinosis: New Insights from a Single-Center Cohort of 70 Patients. Respiratory Medicine, 105, 1908-1916. https://doi.org/10.1016/j.rmed.2011.08.018
Semionov, A. and Kosiuk, J. (2019) Interstitial Lung Disease as a Late Complication of Pulmonary Alveolar Proteinosis. Radiology Case Reports, 14, 572-575. https://doi.org/10.1016/j.radcr.2019.02.011
Seymour, J.F. and Presneill, J.J. (2002) Pulmonary Alveolar Pro-teinosis: Progress in the First 44 Years. American Journal of Respiratory and Critical Care Medicine, 166, 215-235. https://doi.org/10.1164/rccm.2109105
Tazawa, R., Ueda, T., Abe, M., Tatsumi, K., Eda, R., Kondoh, S., et al. (2019) Inhaled GM-CSF for Pulmonary Alveolar Proteinosis. The New England Journal of Medicine, 38, 923-932. https://doi.org/10.1056/NEJMoa1816216
Soyez, B., Borie, R., Menard, C., Cadranel, J., Chavez, L., Cottin, V., et al. (2018) Rituximab for Auto-Immune Alveolar Proteinosis, a Real Life Cohort Study. Respiratory Research, 19, 74. https://doi.org/10.1186/s12931-018-0780-5
Banday, A.Z., Kaur, A., Jindal, A.K., Rawat, A. and Singh, S. (2019) An Update on the Genetics and Pathogenesis of Hereditary Angioedema. Genes & Diseases, S2352304219300455. https://doi.org/10.1016/j.gendis.2019.07.002
Otani, I.M. and Banerji, A. (2017) Acquired C1 Inhibitor Deficiency. Immunology and Allergy Clinics of North America, 37, 497-511. https://doi.org/10.1016/j.iac.2017.03.002
Zanichelli, A., Suffritti, C., Cicardi, M. and Perricone, R. (2014) C1 Inhibitor Autoantibodies. In: Autoantibodies, Elsevier, Amsterdam, 699-705. https://linkinghub.elsevier.com/retrieve/pii/B9780444563781000824 https://doi.org/10.1016/B978-0-444-56378-1.00082-4
Bova, M., De Feo, G., Parente, R., De Pasquale, T., Gravante, C., Pucci, S., et al. (2018) Hereditary and Acquired Angioedema: Heterogeneity of Pathogenesis and Clinical Phenotypes. International Archives of Allergy and Immunology, 175, 126-135. https://doi.org/10.1159/000486312
Craig, T.J., Bernstein, J.A., Farkas, H., Bouillet, L. and Boccon-Gibod, I. (2014) Diagnosis and Treatment of Bradykinin-Mediated Angioedema: Outcomes from an Angioedema Expert Consensus Meeting. International Archives of Allergy and Immunology, 165, 119-127. https://doi.org/10.1159/000368404
Zanichelli, A., Azin, G.M., Wu, M.A., Suffritti, C., Maggioni, L., Caccia, S., et al. (2017) Diagnosis, Course, and Management of Angioedema in Patients with Acquired C1-Inhibitor Deficiency. The Journal of Allergy and Clinical Immunology: In Practice, 5, 1307-1313. https://doi.org/10.1016/j.jaip.2016.12.032
Levi, M., Cohn, D., Zeerleder, S., Dziadzio, M. and Longhurst, H. (2019 Long-Term Effects upon Rituximab Treatment of Acquired Angioedema Due to C1-Inhibitor Deficiency. Allergy, 74, 834-840. https://doi.org/10.1111/all.13686
Dreyfus, D.H., Na, C.R., Randolph, C.C., Kearney, D., Price, C. and Podell, D. (2014) Successful Rituximab B Lymphocyte Depletion Therapy for Angioedema Due to Acquired C1 Inhibitor Protein Deficiency: Association with Reduced C1 Inhibitor Protein Autoantibody Titers. The Israel Medical Association Journal, 16, 315-316.
Ferreira, V.P., Pangburn, M.K. and Cortés, C. (2010) Complement Control Protein Factor H: The Good, the Bad, and the Inadequate. Molecular Immunology, 47, 2187-2197. https://doi.org/10.1016/j.molimm.2010.05.007
Sénant, M. and Dragon-Durey, M.A. (2019) Anti-Factor H Autoantibodies Assay by ELISA. In: Autoantibodies, Springer, Berlin, 191-196. http://link.springer.com/10.1007/978-1-4939-8949-2_15 https://doi.org/10.1007/978-1-4939-8949-2_15
Franchini, M. (2015) Atypical Hemolytic Uremic Syndrome: From Diagnosis to Treatment. Clinical Chemistry and Laboratory Medicine, 53, 1679-1688. https://doi.org/10.1515/cclm-2015-0024
Raina, R., Krishnappa, V., Blaha, T., Kann, T., Hein, W., Burke, L., et al. (2019) Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment: Update on Atypical Hemolytic Uremic Syndrome. Therapeutic Apheresis and Dialysis, 23, 4-21. https://doi.org/10.1111/1744-9987.12763
Vondrák, K. and Seeman, T. (2018) Successful 7-Year Eculizumab Treatment of Plasmapheresis-Resistant Recurrent Atypical Hemolytic-Uremic Syndrome Due to Complement Factor H Hybrid Gene: A Case Report. Transplantation Proceedings, 50, 967-970. https://doi.org/10.1016/j.transproceed.2018.02.012
Sahutoglu, T., Basturk, T., Sakaci, T., Koc, Y., Ahbap, E., Sevinc, M., et al. (2016) Can Eculizumab Be Discontinued in aHUS? Case Report and Review of the Literature. Medicine, 95, e4330. https://doi.org/10.1097/MD.0000000000004330
Puraswani, M., Khandelwal, P., Saini, H., Saini, S., Gurjar, B.S., Sinha, A., et al. (2019) Clinical and Immunological Profile of Anti-Factor H Antibody Associated Atypical Hemolytic Uremic Syndrome: A Nationwide Database. Frontiers in Immunology, 10, 1282. https://doi.org/10.3389/fimmu.2019.01282
Deville, C., Garrouste, C., Coppo, P., Evrard, B., Lautrette, A. and Heng, A.E. (2016) Efficacy of Rituximab and Plasmapharesis in an Adult Patient with Antifactor H Autoantibody-Associated Hemolytic Uremic Syndrome: A Case Report and Literature Review. Medicine, 95, e5007. https://doi.org/10.1097/MD.0000000000005007
Zaman, M., Huissoon, A., Buckland, M., Patel, S., Alachkar, H., Edgar, J.D., et al. (2019) Clinical and Laboratory Features of Seventy-Eight UK Patients with Good’s Syndrome (Thymoma and Hypogammaglobulinaemia): Good’s Syndrome in the UK. Clinical & Experimental Immunology, 195, 132-138. https://doi.org/10.1111/cei.13216
Burbelo, P.D., Browne, S.K., Sampaio, E.P., Giaccone, G., Zaman, R., Kris-tosturyan, E., et al. (2010) Anti-Cytokine Autoantibodies Are Associated with Opportunistic Infection in Patients with Thymicneoplasia. Blood, 116, 4848-4858. https://doi.org/10.1182/blood-2010-05-286161
Tamburello, A., Castelnovo, L., Faggioli, P., Bompane, D., Brando, B., Gatti, A., et al. (2019) Good’s Syndrome, a Rare Form of Acquired Immunodeficiency Associated with Thymomas. Clinical Practice, 9, 51-54. https://doi.org/10.4081/cp.2019.1112
Kawamura, T., Naito, T., Kobayashi, H., Nakashima, K., Omori, S., Wakuda, K., et al. (2019) Acquired Immunodeficiency Associated with Thymoma: A Case Report. BMC Cancer, 19, 762. https://doi.org/10.1186/s12885-019-5980-y
Multani, A., Gomez, C.A. and Montoya, J.G. (2018) Prevention of Infectious Diseases in Patients with Good Syndrome. Current Opinion in Infectious Diseases, 31, 267-277. https://doi.org/10.1097/QCO.0000000000000473
Sveinsson, O., Piehl, F., Aspegren, O. and Hietala, M.A. (2019) Successful Combined Treatment with Thymectomy, Rituximab and Tocilizumab for Severe Thymoma-Associated Multi Autoimmune Syndrome. Journal of Neuroimmunology, 336, Article ID: 577028. https://doi.org/10.1016/j.jneuroim.2019.577028