Autoimmunity in Primary Immunodeficiencies (PID)

Fischer A, Provot J, Jais JP, Alcais A, Mahlaoui N (2017) Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. J Allergy Clin Immunol 140(5):1388-1393.e1388

CAS  PubMed  Article  Google Scholar 

Carneiro-Sampaio M, Coutinho A (2015) Early-onset autoimmune disease as a manifestation of primary immunodeficiency. Front Immunol 6:185

PubMed  PubMed Central  Article  CAS  Google Scholar 

Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS et al (2014) Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood 123(13):1989–1999

CAS  PubMed  PubMed Central  Article  Google Scholar 

Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magérus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J et al (2019) Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood 134(1):9–21

CAS  PubMed  Article  Google Scholar 

Seidel MG (2014) Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood 124(15):2337–2344

CAS  PubMed  PubMed Central  Article  Google Scholar 

Gambineri E, Ciullini Mannurita S, Hagin D, Vignoli M, Anover-Sombke S, DeBoer S, Segundo GRS, Allenspach EJ, Favre C, Ochs HD et al (2018) Clinical, immunological, and molecular heterogeneity of 173 patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Front Immunol 9:2411

PubMed  PubMed Central  Article  CAS  Google Scholar 

Kisand K, Peterson P (2015) Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J Clin Immunol 35(5):463–478

CAS  PubMed  Article  Google Scholar 

Cunningham-Rundles C, Maglione PJ (2012) Common variable immunodeficiency. J Allergy Clin Immunol 129(5):1425-1426.e1423

PubMed  Article  Google Scholar 

Buchbinder D, Nugent DJ, Fillipovich AH (2014) Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments. Appl Clin Genet 7:55–66

PubMed  PubMed Central  Article  Google Scholar 

Falcone EL, Holland SM (2019) Gastrointestinal complications in chronic granulomatous disease. Methods Mol Biol 1982:573–586

CAS  PubMed  Article  Google Scholar 

Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M et al (2020) Hematopoietic cell transplantation in patients with primary immune regulatory disorders (PIRD): a Primary Immune Deficiency Treatment Consortium (PIDTC) survey. Front Immunol 11:239

CAS  PubMed  PubMed Central  Article  Google Scholar 

Saifi M, Wysocki CA (2015) Autoimmune disease in primary immunodeficiency: at the crossroads of anti-infective immunity and self-tolerance. Immunol Allergy Clin 35(4):731–752

Article  Google Scholar 

Grimbacher B, Warnatz K, Yong PF, Korganow A-S, Peter H-H (2016) The crossroads of autoimmunity and immunodeficiency: lessons from polygenic traits and monogenic defects. J Allergy Clin Immunol 137(1):3–17

CAS  PubMed  Article  Google Scholar 

Giardino G, Gallo V, Prencipe R, Gaudino G, Romano R, De Cataldis M, Lorello P, Palamaro L, Di Giacomo C, Capalbo D (2016) Unbalanced immune system: immunodeficiencies and autoimmunity. Front Pediatr 4:107

PubMed  PubMed Central  Article  Google Scholar 

Schröder-Braunstein J, Kirschfink M (2019) Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management. Mol Immunol 114:299–311

PubMed  Article  CAS  Google Scholar 

Kuehn HS, Niemela JE, Rangel-Santos A, Zhang M, Pittaluga S, Stoddard JL, Hussey AA, Evbuomwan MO, Priel DAL, Kuhns DB (2013) Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. Blood TJ Am Soc Hematol 121(16):3117–3125

CAS  Google Scholar 

Costagliola G, Cappelli S, Consolini R (2021) Autoimmunity in primary immunodeficiency disorders: an updated review on pathogenic and clinical implications. J Clin Med 10(20):4729

CAS  PubMed  PubMed Central  Article  Google Scholar 

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM et al (2020) Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol 40(1):66–81

PubMed  PubMed Central  Article  Google Scholar 

Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, Griffith LM, Kohn DB, O’Reilly RJ, Fleisher TA et al (2014) Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol 133(4):1092–1098

PubMed  Article  Google Scholar 

Buckley RH (2012) The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol 129(3):597–604

PubMed  PubMed Central  Article  Google Scholar 

Omenn GS (1965) Familial reticuloendotheliosis with eosinophilia. N Engl J Med 273:427–432

CAS  PubMed  Article  Google Scholar 

de Saint-Basile G, Le Deist F, de Villartay JP, Cerf-Bensussan N, Journet O, Brousse N, Griscelli C, Fischer A (1991) Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn’s syndrome). J Clin Invest 87(4):1352–1359

PubMed  PubMed Central  Article  Google Scholar 

Bai X, Liu J, Zhang Z, Liu C, Zhang Y, Tang W, Dai R, Wu J, Tang X, Zhang Y et al (2016) Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. Immunol Res 64(2):497–507

CAS  PubMed  Article  Google Scholar 

Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U (2005) Omenn syndrome due to ARTEMIS mutations. Blood 105(11):4179–4186

CAS  PubMed  Article  Google Scholar 

Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S et al (1996) RAG mutations in human B cell-negative SCID. Science 274(5284):97–99

CAS  PubMed  Article  Google Scholar 

Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD et al (1998) Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93(5):885–896

CAS  PubMed  Article  Google Scholar 

Rieux-Laucat F, Bahadoran P, Brousse N, Selz F, Fischer A, Le Deist F, De Villartay JP (1998) Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn’s syndrome. J Clin Invest 102(2):312–321

CAS  PubMed  PubMed Central  Article  Google Scholar 

Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, Bozzi F, Albertini A, Ugazio AG, Vezzoni P et al (1999) Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Blood 94(10):3468–3478

CAS  PubMed  Article  Google Scholar 

Le Deist F, Fischer A, Durandy A, Arnaud-Battandier F, Nezelof C, Hamet M, de Prost Y, Griscelli C (1985) Severe combined immune deficiency with hypereosinophilia: Immunologic study of 5 cases. Arch Fr Pediatr 42(1):11–16

PubMed  Google Scholar 

Facchetti F, Blanzuoli L, Ungari M, Alebardi O, Vermi W (1998) Lymph node pathology in primary combined immunodeficiency diseases. Springer Semin Immunopathol 19(4):459–478

CAS  PubMed  Article  Google Scholar 

Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A et al (2005) AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 115(3):728–732

CAS  PubMed  PubMed Central  Article  Google Scholar 

Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P et al (2010) Defect of regulatory T cells in patients with Omenn syndrome. J Allergy Clin Immunol 125(1):209–216

CAS  PubMed  Article  Google Scholar 

Kaino Y, Otoh Y, Tokuda K, Hirai H, Ito T, Kida K (2000) Acquired hypothyroidism in a very young infant with Omenn’s syndrome. J Pediatr 136(1):111–113

CAS  PubMed  Article  Google Scholar 

Rigoni R, Fontana E, Guglielmetti S, Fosso B, D’Erchia AM, Maina V, Taverniti V, Castiello MC, Mantero S, Pacchiana G et al (2016) Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects. J Exp Med 213(3):355–375

CAS  PubMed  PubMed Central  Article  Google Scholar 

Zago CA, Jacob CM, de Albuquerque Diniz EM, Lovisolo SM, Zerbini MC, Dorna M, Watanabe L, Fernandes JF, Rocha V, Oliveira JB et al (2014) Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. Hum Immunol 75(7):662–666

CAS  PubMed  Article  Google Scholar 

Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I et al (2009) Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 124(6):1289-1302.e1284

CAS  PubMed  PubMed Central  Article 

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