Hanna S, Etzioni A. MHC class I and II deficiencies. J Allergy Clin Immunol. 2014;134:269–75.
Article CAS PubMed Google Scholar
Hanalioglu D, Ayvaz DC, Ozgur TT, van der Burg M, Sanal O, Tezcan I. A novel mutation in TAP1 gene leading to MHC class I deficiency: report of two cases and review of the literature. Clin Immunol. 2017;178:74–8.
Article CAS PubMed Google Scholar
Zimmer J, Andrès E, Donato L, Hanau D, Hentges F, de la Salle H. Clinical and immunological aspects of HLA class I deficiency. QJM. 2005;98:719–27.
Article CAS PubMed Google Scholar
Gao Y, Arkwright PD, Carter R, Cazaly A, Harrison RJ, Mant A, et al. Bone marrow transplantation for MHC class I deficiency corrects T-cell immunity but dissociates natural killer cell repertoire formation from function. J Allergy Clin Immunol. 2016;138:1733–e17362.
Article CAS PubMed PubMed Central Google Scholar
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42:1473–507.
Article PubMed PubMed Central Google Scholar
de la Salle H, Zimmer J, Fricker D, Angenieux C, Cazenave JP, Okubo M, et al. HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. J Clin Invest. 1999;103:R9–13.
Article PubMed PubMed Central Google Scholar
Wang Q, Su H, Han J, Yang J, Lin N. Case report: Rubella virus-associated cutaneous granuloma in an adult with TAP1 deficiency. Front Immunol. 2024;15:1366840.
Article CAS PubMed PubMed Central Google Scholar
Praest P, Luteijn RD, Brak-Boer IGJ, Lanfermeijer J, Hoelen H, Ijgosse L, et al. The influence of TAP1 and TAP2 gene polymorphisms on TAP function and its inhibition by viral immune evasion proteins. Mol Immunol. 2018;101:55–64.
Article CAS PubMed Google Scholar
Lindeboom RG, Supek F, Lehner B. The rules and impact of nonsense-mediated mRNA decay in human cancers. Nat Genet. 2016;48(10):1112–8.
Article CAS PubMed PubMed Central Google Scholar
Caversaccio M, Bonél HM, Carter R, Williams AP, Gadola SD. TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. Eur Arch Otorhinolaryngol. 2008;265:1289–92.
Maeda H, Hirata R, Chen RF, Suzaki H, Kudoh S, Tohyama H. Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. Immunogenetics. 1985;21:549–58.
Article CAS PubMed Google Scholar
Watanabe S, Iwata M, Maeda H, Ishibashi Y. Immunohistochemical studies of major histocompatibility antigens in a case of the bare lymphocyte syndrome without immunodeficiency. J Am Acad Dermatol. 1987;17:895–902.
Article CAS PubMed Google Scholar
Plebani A, Monafo V, Cattaneo R, Carella G, Brugnoni D, Facchetti F, et al. Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers. J Am Acad Dermatol. 1996;35:814–8.
Article CAS PubMed Google Scholar
Moins-Teisserenc HT, Gadola SD, Cella M, Dunbar PR, Exley A, Blake N, et al. Association of a syndrome resembling Wegener’s granulomatosis with low surface expression of HLA class-I molecules. Lancet. 1999;354:1598–603.
Article CAS PubMed Google Scholar
Parissiadis A, Dormoy A, Fricker D, Hanau D, de la Salle H, Cazenave J-P, et al. Unilateral necrotising toxoplasmic retinochoroiditis as the main clinical manifestation of a peptide transporter (TAP) deficiency. Br J Ophthalmol. 2005;89:1661–2.
Article CAS PubMed PubMed Central Google Scholar
Doğu F, Ikincioğullari A, Fricker D, Bozdoğan G, Aytekin C, Ileri M, et al. A novel mutation for TAP deficiency and its possible association with Toxoplasmosis. Parasitol Int. 2006;55:219–22.
Villa-Forte A, de la Salle H, Fricker D, Hentges F, Zimmer J. HLA class I deficiency syndrome mimicking Wegener’s granulomatosis. Arthritis Rheum. 2008;58:2579–82.
Tsilifis C, Moreira D, Marques L, Neves E, Slatter MA, Gennery AR. Stem cell transplantation as treatment for major histocompatibility class I deficiency. Clin Immunol. 2021;229:108801.
Article CAS PubMed Google Scholar
Law-Ping-Man S, Toutain F, Rieux-Laucat F, Picard C, Kammerer-Jacquet S, Magérus-Chatinet A, et al. Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. Pediatr Dermatol. 2018;35:e375–7.
留言 (0)