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   FOXP3base
   Variation registry for  Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX


FOXP3base mutation publications

[2009] [2008] [2007] [2006] [2004] [2002] [2001] [1998]

Search PubMed latest citations for FOXP3 mutations

    2009

  • Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
    Hashimura Y, Nozu K, Kanegane H, Miyawaki T, Hayakawa A, Yoshikawa N, Nakanishi K, Takemoto M, Iijima K, Matsuo M
    Pediatr Nephrol 2009(6): 1181-6 [PubMed abstract].

  • Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.
    Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, Hattersley AT
    Diabetes Care 2009(1): 111-6 [PubMed abstract].

  • Allergic bronchopulmonary aspergillosis in a 2-year-old asthmatic boy with immune dysregulation, polyendocrinopathy, enteropathy, X-linked.
    Ohshima M, Futamura M, Kamachi Y, Ito K, Sakamoto T
    Pediatr Pulmonol 2009(3): 297-9 [PubMed abstract].

  • Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
    Halabi-Tawil M, Ruemmele FM, Fraitag S, Rieux-Laucat F, Neven B, Brousse N, De Prost Y, Fischer A, Goulet O, Bodemer C
    Br J Dermatol 2009(3): 645-51 [PubMed abstract].

    2008

  • A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain.
    Costa-Carvalho BT, de Moraes-Pinto MI, de Almeida LC, de Seixas Alves MT, Maia RP, de Souza RL, Barreto M, Lourenço L, Vicente AM, Coutinho A, Carneiro-Sampaio M
    Scand J Immunol 2008(1): 85-91 [PubMed abstract].

  • Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.
    Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R
    J Allergy Clin Immunol 2008(6): 1105-1112.e1 [PubMed abstract].

    2007

  • Molecular basis of neonatal diabetes in Japanese patients.
    Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K
    J Clin Endocrinol Metab 2007(10): 3979-85 [PubMed abstract].

  • Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy.
    Moudgil A, Perriello P, Loechelt B, Przygodzki R, Fitzerald W, Kamani N
    Pediatr Nephrol 2007(10): 1799-802 [PubMed abstract].

  • Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.
    Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, Hermine O, Vijay S, Gambineri E, Cerf-Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM
    Gastroenterology 2007(5): 1705-17 [PubMed abstract].

  • Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.
    Fuchizawa T, Adachi Y, Ito Y, Higashiyama H, Kanegane H, Futatani T, Kobayashi I, Kamachi Y, Sakamoto T, Tsuge I, Tanaka H, Banham AH, Ochs HD, Miyawaki T
    Clin Immunol 2007(3): 237-46 [PubMed abstract].

    2006

  • Defective regulatory and effector T cell functions in patients with FOXP3 mutations.
    Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG
    J Clin Invest 2006(6): 1713-22 [PubMed abstract].

    2004

  • Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
    Nieves DS, Phipps RP, Pollock SJ, Ochs HD, Zhu Q, Scott GA, Ryan CK, Kobayashi I, Rossi TM, Goldsmith LA
    Arch Dermatol 2004(4): 466-72 [PubMed abstract].

    2002

  • Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.
    Wildin RS, Smyk-Pearson S, Filipovich AH
    J Med Genet 2002(8): 537-45 [PubMed abstract].

    2001

  • The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
    Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD
    Nat Genet 2001(1): 20-1 [PubMed abstract].

  • Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).
    Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K
    J Med Genet 2001(12): 874-6 [PubMed abstract].

  • A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.
    Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF
    Immunogenetics 2001(6): 435-9 [PubMed abstract].

  • X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
    Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli FD, Byrne G, McEuen M, Proll S, Appleby M, Brunkow ME
    Nat Genet 2001(1): 18-20 [PubMed abstract].

  • Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.
    Levy-Lahad E, Wildin RS
    J Pediatr 2001(4): 577-80 [PubMed abstract].

    1998

  • A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy.
    Kobayashi I, Imamura K, Yamada M, Okano M, Yara A, Ikema S, Ishikawa N
    Clin Exp Immunol 1998(3): 527-31 [PubMed abstract].