메뉴 건너뛰기




Volumn 61, Issue 2, 2012, Pages 207-217

Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency

Author keywords

Anhidrotic ectodermal dysplasia with immunodeficiency; Immunodeficiency; Inflammation; NEMO; NF kappaB inhibitor alpha

Indexed keywords

ANTIBIOTIC AGENT; C REACTIVE PROTEIN; I KAPPA B ALPHA; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; ZINC FINGER PROTEIN;

EID: 84862666587     PISSN: 13238930     EISSN: 14401592     Source Type: Journal    
DOI: 10.2332/allergolint.12-RAI-0446     Document Type: Review
Times cited : (49)

References (43)
  • 1
    • 0028127041 scopus 로고
    • Ectodermal dysplasias: A clinical classification and a causal review
    • Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994;53:153-62.
    • (1994) Am J Med Genet , vol.53 , pp. 153-162
    • Pinheiro, M.1    Freire-Maia, N.2
  • 2
    • 0030033284 scopus 로고    scopus 로고
    • Anhidrotic ectodermal dysplasia associated with specific antibody deficiency
    • Abinun M, Spickett G, Appleton AL, Flood T, Cant AJ. Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Eur J Pediatr 1996;155:146-7.
    • (1996) Eur J Pediatr , vol.155 , pp. 146-147
    • Abinun, M.1    Spickett, G.2    Appleton, A.L.3    Flood, T.4    Cant, A.J.5
  • 3
    • 0026563059 scopus 로고
    • Extramedullary hematopoiesis of the cranial dura and anhidrotic ectodermal dysplasia
    • Sitton JE, Reimund EL. Extramedullary hematopoiesis of the cranial dura and anhidrotic ectodermal dysplasia. Neuropediatrics 1992;23:108-10.
    • (1992) Neuropediatrics , vol.23 , pp. 108-110
    • Sitton, J.E.1    Reimund, E.L.2
  • 4
    • 0029023846 scopus 로고
    • Ectodermal dysplasia and immunodeficiency
    • Abinun M. Ectodermal dysplasia and immunodeficiency. Arch Dis Child 1995;73:185.
    • (1995) Arch Dis Child , vol.73 , pp. 185
    • Abinun, M.1
  • 5
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
    • Döffinger R, Smahi A, Bessia C et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet 2001;27:277-85.
    • (2001) Nat Genet , vol.27 , pp. 277-285
    • Döffinger, R.1    Smahi, A.2    Bessia, C.3
  • 6
    • 1942500166 scopus 로고    scopus 로고
    • The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation
    • Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol 2004;113: 725-33.
    • (2004) J Allergy Clin Immunol , vol.113 , pp. 725-733
    • Orange, J.S.1    Jain, A.2    Ballas, Z.K.3    Schneider, L.C.4    Geha, R.S.5    Bonilla, F.A.6
  • 7
    • 85047693559 scopus 로고    scopus 로고
    • A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
    • Courtois G, Smahi A, Reichenbach J et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 2003;112:1108-15.
    • (2003) J Clin Invest , vol.112 , pp. 1108-1115
    • Courtois, G.1    Smahi, A.2    Reichenbach, J.3
  • 8
    • 0022903301 scopus 로고
    • Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia
    • Frix CD 3rd, Bronson DM. Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia. Pediatr Dermatol 1986;3:464-7.
    • (1986) Pediatr Dermatol , vol.3 , pp. 464-467
    • Frix III, C.D.1    Bronson, D.M.2
  • 9
    • 0035286726 scopus 로고    scopus 로고
    • Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
    • Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol 2001;2:223-8.
    • (2001) Nat Immunol , vol.2 , pp. 223-228
    • Jain, A.1    Ma, C.A.2    Liu, S.3    Brown, M.4    Cohen, J.5    Strober, W.6
  • 10
    • 0035281865 scopus 로고    scopus 로고
    • Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
    • Mansour S, Woffendin H, Mitton S et al. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 2001;99:172-7.
    • (2001) Am J Med Genet , vol.99 , pp. 172-177
    • Mansour, S.1    Woffendin, H.2    Mitton, S.3
  • 11
    • 57149141634 scopus 로고    scopus 로고
    • Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity
    • Hanson EP, Monaco-Shawver L, Solt LA et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol 2008; 122:1169-77.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1169-1177
    • Hanson, E.P.1    Monaco-Shawver, L.2    Solt, L.A.3
  • 12
    • 4544219780 scopus 로고    scopus 로고
    • The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes
    • Janssen R, van Wengen A, Hoeve MA et al. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 2004; 200:559-68.
    • (2004) J Exp Med , vol.200 , pp. 559-568
    • Janssen, R.1    van Wengen, A.2    Hoeve, M.A.3
  • 13
    • 34948908695 scopus 로고    scopus 로고
    • Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency
    • McDonald DR, Mooster JL, Reddy M, Bawle E, Secord E, Geha RS. Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy Clin Immunol 2007;120:900-7.
    • (2007) J Allergy Clin Immunol , vol.120 , pp. 900-907
    • McDonald, D.R.1    Mooster, J.L.2    Reddy, M.3    Bawle, E.4    Secord, E.5    Geha, R.S.6
  • 14
    • 44849115170 scopus 로고    scopus 로고
    • A novel mutation in NFKBIA/IKBA results in a degradationresistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency
    • Lopez-Granados E, Keenan JE, Kinney MC et al. A novel mutation in NFKBIA/IKBA results in a degradationresistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. Hum Mutat 2008;29:861-8.
    • (2008) Hum Mutat , vol.29 , pp. 861-868
    • Lopez-Granados, E.1    Keenan, J.E.2    Kinney, M.C.3
  • 15
    • 84856432907 scopus 로고    scopus 로고
    • A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome
    • Ohnishi H, Miyata R, Suzuki T et al. A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome. J Allergy Clin Immunol 2012;129:578-80.
    • (2012) J Allergy Clin Immunol , vol.129 , pp. 578-580
    • Ohnishi, H.1    Miyata, R.2    Suzuki, T.3
  • 16
    • 23844485308 scopus 로고    scopus 로고
    • The NF-kappaB signaling pathway in human genetic diseases
    • Courtois G. The NF-kappaB signaling pathway in human genetic diseases. Cell Mol Life Sci 2005;62:1682-91.
    • (2005) Cell Mol Life Sci , vol.62 , pp. 1682-1691
    • Courtois, G.1
  • 17
    • 80054854922 scopus 로고    scopus 로고
    • Non-canonical NFkappaB signaling activation and regulation: Principles and perspectives
    • Razani B, Reichardt AD, Cheng G. Non-canonical NFkappaB signaling activation and regulation: principles and perspectives. Immunol Rev 2011;244:44-54.
    • (2011) Immunol Rev , vol.244 , pp. 44-54
    • Razani, B.1    Reichardt, A.D.2    Cheng, G.3
  • 18
    • 0032568792 scopus 로고    scopus 로고
    • Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation
    • Yamaoka S, Courtois G, Bessia C et al. Complementation cloning of NEMO, a component of the IkappaB kinase complex essential for NF-kappaB activation. Cell 1998;93: 1231-40.
    • (1998) Cell , vol.93 , pp. 1231-1240
    • Yamaoka, S.1    Courtois, G.2    Bessia, C.3
  • 19
    • 79961003254 scopus 로고    scopus 로고
    • New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: Impairment of ubiquitin binding despite normal folding of NEMO protein
    • Hubeau M, Ngadjeua F, Puel A et al. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. Blood 2011;118:926-35.
    • (2011) Blood , vol.118 , pp. 926-935
    • Hubeau, M.1    Ngadjeua, F.2    Puel, A.3
  • 20
    • 33646548319 scopus 로고    scopus 로고
    • A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide-and tumor necrosis factor-mediated NF-kappa B activation
    • Vinolo E, Sebban H, Chaffotte A et al. A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide-and tumor necrosis factor-mediated NF-kappa B activation. J Biol Chem 2006;281:6334-48.
    • (2006) J Biol Chem , vol.281 , pp. 6334-6348
    • Vinolo, E.1    Sebban, H.2    Chaffotte, A.3
  • 22
    • 79960419007 scopus 로고    scopus 로고
    • NF-kappaB essential modulator (NEMO) interaction with linear and lys-63 ubiquitin chains contributes to NF-kappaB activation
    • Hadian K, Griesbach RA, Dornauer S et al. NF-kappaB essential modulator (NEMO) interaction with linear and lys-63 ubiquitin chains contributes to NF-kappaB activation. J Biol Chem 2011;286:26107-17.
    • (2011) J Biol Chem , vol.286 , pp. 26107-26117
    • Hadian, K.1    Griesbach, R.A.2    Dornauer, S.3
  • 23
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    • Smahi A, Courtois G, Vabres P et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000;405:466-72.
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3
  • 24
    • 0033658369 scopus 로고    scopus 로고
    • A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
    • Zonana J, Elder ME, Schneider LC et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000;67:1555-62.
    • (2000) Am J Hum Genet , vol.67 , pp. 1555-1562
    • Zonana, J.1    Elder, M.E.2    Schneider, L.C.3
  • 25
    • 0036599324 scopus 로고    scopus 로고
    • Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    • Dupuis-Girod S, Corradini N, Hadj-Rabia S et al. Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 2002;109:e97.
    • (2002) Pediatrics , vol.109
    • Dupuis-Girod, S.1    Corradini, N.2    Hadj-Rabia, S.3
  • 26
    • 71749083630 scopus 로고    scopus 로고
    • Impediment of NEMO oligomerization inhibits osteoclastogenesis and osteolysis
    • Darwech I, Otero J, Alhawagri M, Dai S, Abu-Amer Y. Impediment of NEMO oligomerization inhibits osteoclastogenesis and osteolysis. J Cell Biochem 2009;108:1337-45.
    • (2009) J Cell Biochem , vol.108 , pp. 1337-1345
    • Darwech, I.1    Otero, J.2    Alhawagri, M.3    Dai, S.4    Abu-Amer, Y.5
  • 27
    • 85047693229 scopus 로고    scopus 로고
    • Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation
    • Jain A, Ma CA, Lopez-Granados E et al. Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. J Clin Invest 2004;114:1593-602.
    • (2004) J Clin Invest , vol.114 , pp. 1593-1602
    • Jain, A.1    Ma, C.A.2    Lopez-Granados, E.3
  • 28
    • 33745835468 scopus 로고    scopus 로고
    • Xlinked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
    • Filipe-Santos O, Bustamante J, Haverkamp MH et al. Xlinked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J ExpMed 2006;203:1745-59.
    • (2006) J ExpMed , vol.203 , pp. 1745-1759
    • Filipe-Santos, O.1    Bustamante, J.2    Haverkamp, M.H.3
  • 29
    • 0036259559 scopus 로고    scopus 로고
    • Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations
    • Orange JS, Brodeur SR, Jain A et al. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. J Clin Invest 2002;109:1501-9.
    • (2002) J Clin Invest , vol.109 , pp. 1501-1509
    • Orange, J.S.1    Brodeur, S.R.2    Jain, A.3
  • 30
    • 38849187256 scopus 로고    scopus 로고
    • NKp30 ligation induces rapid activation of the canonical NF-kappaB pathway in NK cells
    • Pandey R, DeStephan CM, Madge LA, May MJ, Orange JS. NKp30 ligation induces rapid activation of the canonical NF-kappaB pathway in NK cells. J Immunol 2007;179: 7385-96.
    • (2007) J Immunol , vol.179 , pp. 7385-7396
    • Pandey, R.1    DeStephan, C.M.2    Madge, L.A.3    May, M.J.4    Orange, J.S.5
  • 31
    • 34250182439 scopus 로고    scopus 로고
    • Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen
    • Tono C, Takahashi Y, Terui K et al. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Bone Marrow Transplant 2007;39: 801-4.
    • (2007) Bone Marrow Transplant , vol.39 , pp. 801-804
    • Tono, C.1    Takahashi, Y.2    Terui, K.3
  • 32
    • 60349093646 scopus 로고    scopus 로고
    • Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency
    • Fish JD, Duerst RE, Gelfand EW, Orange JS, Bunin N. Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. Bone Marrow Transplant 2009;43:217-21.
    • (2009) Bone Marrow Transplant , vol.43 , pp. 217-221
    • Fish, J.D.1    Duerst, R.E.2    Gelfand, E.W.3    Orange, J.S.4    Bunin, N.5
  • 33
    • 84862265794 scopus 로고    scopus 로고
    • Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency
    • Mizukami T, Obara M, Nishikomori R et al. Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. J Clin Immunol 2012;32:39-49.
    • (2012) J Clin Immunol , vol.32 , pp. 39-49
    • Mizukami, T.1    Obara, M.2    Nishikomori, R.3
  • 34
    • 34047173496 scopus 로고    scopus 로고
    • Epithelial NEMO links innate immunity to chronic intestinal inflammation
    • Nenci A, Becker C, Wullaert A et al. Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature 2007;446:557-61.
    • (2007) Nature , vol.446 , pp. 557-561
    • Nenci, A.1    Becker, C.2    Wullaert, A.3
  • 35
    • 4444279550 scopus 로고    scopus 로고
    • Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
    • Orange JS, Levy O, Brodeur SR et al. Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol 2004;114:650-6.
    • (2004) J Allergy Clin Immunol , vol.114 , pp. 650-656
    • Orange, J.S.1    Levy, O.2    Brodeur, S.R.3
  • 36
    • 2942627117 scopus 로고    scopus 로고
    • X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival
    • Nishikomori R, Akutagawa H, Maruyama K et al. X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. Blood 2004;103:4565-72.
    • (2004) Blood , vol.103 , pp. 4565-4572
    • Nishikomori, R.1    Akutagawa, H.2    Maruyama, K.3
  • 37
    • 77953961001 scopus 로고    scopus 로고
    • Immune deficiency caused by impaired expression of nuclear factorkappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene
    • Mooster JL, Cancrini C, Simonetti A et al. Immune deficiency caused by impaired expression of nuclear factorkappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene. J Allergy Clin Immunol 2010;126:127-32.
    • (2010) J Allergy Clin Immunol , vol.126 , pp. 127-132
    • Mooster, J.L.1    Cancrini, C.2    Simonetti, A.3
  • 38
    • 80755139579 scopus 로고    scopus 로고
    • Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation
    • Imamura M, Kawai T, Okada S et al. Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation. J Clin Immunol 2011;31:802-10.
    • (2011) J Clin Immunol , vol.31 , pp. 802-810
    • Imamura, M.1    Kawai, T.2    Okada, S.3
  • 39
    • 84862563132 scopus 로고    scopus 로고
    • Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency
    • Epub Apr 19
    • Kawai T, Nishikomori R, Izawa K et al. Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood. Epub 2012 Apr 19.
    • (2012) Blood
    • Kawai, T.1    Nishikomori, R.2    Izawa, K.3
  • 40
    • 57149139812 scopus 로고    scopus 로고
    • Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factorkappaB essential modulator deficiency
    • Pai SY, Levy O, Jabara HH et al. Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factorkappaB essential modulator deficiency. J Allergy Clin Immunol 2008;122:1113-8.
    • (2008) J Allergy Clin Immunol , vol.122 , pp. 1113-1118
    • Pai, S.Y.1    Levy, O.2    Jabara, H.H.3
  • 41
    • 67349203943 scopus 로고    scopus 로고
    • Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome
    • Cheng LE, Kanwar B, Tcheurekdjian H et al. Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome. Clin Immunol 2009;132: 124-31.
    • (2009) Clin Immunol , vol.132 , pp. 124-131
    • Cheng, L.E.1    Kanwar, B.2    Tcheurekdjian, H.3
  • 42
    • 69849091086 scopus 로고    scopus 로고
    • Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: Case report and review of outcomes
    • Permaul P, Narla A, Hornick JL, Pai SY. Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes. Immunol Res 2009;44:89-98.
    • (2009) Immunol Res , vol.44 , pp. 89-98
    • Permaul, P.1    Narla, A.2    Hornick, J.L.3    Pai, S.Y.4
  • 43
    • 33746830528 scopus 로고    scopus 로고
    • Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency
    • Dupuis-Girod S, Cancrini C, Le Deist F et al. Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. Pediatrics 2006;118:e205-11.
    • (2006) Pediatrics , vol.118
    • Dupuis-Girod, S.1    Cancrini, C.2    Le Deist, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.