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Volumn 23, Issue 2, 2004, Pages 116-124

Incontinentia pigmenti: A window to the role of NF-κB function

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; EMOLLIENT AGENT; ETRETINATE; IMMUNOGLOBULIN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; TUMOR NECROSIS FACTOR ALPHA;

EID: 3042780504     PISSN: 10855629     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.sder.2004.01.005     Document Type: Review
Times cited : (18)

References (56)
  • 1
    • 0036696739 scopus 로고    scopus 로고
    • Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology
    • Berlin A.L., Paller A.S., Chan L.S. Incontinentia pigmenti A review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 47:2002;169-187
    • (2002) J Am Acad Dermatol , vol.47 , pp. 169-187
    • Berlin, A.L.1    Paller, A.S.2    Chan, L.S.3
  • 2
    • 0017260992 scopus 로고
    • Incontinentia pigmenti: A world statistical analysis
    • Carney R.G. Incontinentia pigmenti A world statistical analysis. Arch Dermatol. 112:1975;535-542
    • (1975) Arch Dermatol , vol.112 , pp. 535-542
    • Carney, R.G.1
  • 3
    • 0035205331 scopus 로고    scopus 로고
    • Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    • Kenwrick S., Woffendin H., Jakins T., et al. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet. 69:2001;1210-1217
    • (2001) Am J Hum Genet , vol.69 , pp. 1210-1217
    • Kenwrick, S.1    Woffendin, H.2    Jakins, T.3
  • 4
    • 0141708025 scopus 로고    scopus 로고
    • Clinical study of 40 cases of incontinentia pigmenti
    • Hadj-Rabia S., Froidevaux D., Bodak N., et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. 139:2003;1163-1170
    • (2003) Arch Dermatol , vol.139 , pp. 1163-1170
    • Hadj-Rabia, S.1    Froidevaux, D.2    Bodak, N.3
  • 5
    • 0037323065 scopus 로고    scopus 로고
    • Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: An unusual phenomenon and a fascinating pathologic mechanism
    • Bodak N., Hadj-Rabia S., Hamel-Teillac D., et al. Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti An unusual phenomenon and a fascinating pathologic mechanism. Arch Dermatol. 139:2003;201-204
    • (2003) Arch Dermatol , vol.139 , pp. 201-204
    • Bodak, N.1    Hadj-Rabia, S.2    Hamel-Teillac, D.3
  • 6
    • 0027403249 scopus 로고
    • Incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Landy S.J., Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 30:1993;53-59
    • (1993) J Med Genet , vol.30 , pp. 53-59
    • Landy, S.J.1    Donnai, D.2
  • 7
    • 0023750931 scopus 로고
    • Progressive, persistent, hyperkeratotic lesions in incontinentia pigmenti
    • Bessems P.J., Jagtman B.A., van de Staak W.J., et al. Progressive, persistent, hyperkeratotic lesions in incontinentia pigmenti. Arch Dermatol. 124:1988;29-30
    • (1988) Arch Dermatol , vol.124 , pp. 29-30
    • Bessems, P.J.1    Jagtman, B.A.2    Van De Staak, W.J.3
  • 8
    • 0029060349 scopus 로고
    • Incontinentia pigmenti: Late sequelae and genotypic diagnosis: A three-generaion study of four patients
    • Dutheil P., Vabres P., Hors Cayla M.C., et al. Incontinentia pigmenti: Late sequelae and genotypic diagnosis: A three-generaion study of four patients. Pediatr Dermatol. 12:1995;107-111
    • (1995) Pediatr Dermatol , vol.12 , pp. 107-111
    • Dutheil, P.1    Vabres, P.2    Hors Cayla, M.C.3
  • 9
    • 0018900717 scopus 로고
    • Incontinentia pigmenti: A four-generation study
    • Wiklund D.A., Weston W.L. Incontinentia pigmenti A four-generation study. Arch Dermatol. 116:1980;701-703
    • (1980) Arch Dermatol , vol.116 , pp. 701-703
    • Wiklund, D.A.1    Weston, W.L.2
  • 10
    • 0023279279 scopus 로고
    • Anhidrotic and achromians lesions in incontinentia pigmenti
    • Moss C., Ince P. Anhidrotic and achromians lesions in incontinentia pigmenti. Br J Dermatol. 116:1987;839-849
    • (1987) Br J Dermatol , vol.116 , pp. 839-849
    • Moss, C.1    Ince, P.2
  • 11
    • 0022371852 scopus 로고
    • Painful subungal keratotic tumors in incontinentia pigmenti
    • Mascaro J.M., Palou J., Vives P. Painful subungal keratotic tumors in incontinentia pigmenti. J Am Acad Dermatol. 13:1985;913-918
    • (1985) J Am Acad Dermatol , vol.13 , pp. 913-918
    • Mascaro, J.M.1    Palou, J.2    Vives, P.3
  • 12
    • 0022967413 scopus 로고
    • Sugungal tumors in incontinentia pigmenti
    • Simmons D.A., Kegel M.F., Scher R., et al. Sugungal tumors in incontinentia pigmenti. Arch Dermatol. 122:1986;1431-1434
    • (1986) Arch Dermatol , vol.122 , pp. 1431-1434
    • Simmons, D.A.1    Kegel, M.F.2    Scher, R.3
  • 13
    • 0031918467 scopus 로고    scopus 로고
    • Painful subungual tumour in incontinentia pigmenti: Response to treatment with etretinate
    • Malvehy J., Palou J., Mascaro J.M. Painful subungual tumour in incontinentia pigmenti Response to treatment with etretinate. Br J Dermatol. 138:1998;554-555
    • (1998) Br J Dermatol , vol.138 , pp. 554-555
    • Malvehy, J.1    Palou, J.2    Mascaro, J.M.3
  • 14
    • 0027449090 scopus 로고
    • Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome)
    • Goldberg M.F., Custis P.H. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. 100:1993;1645-1654
    • (1993) Ophthalmology , vol.100 , pp. 1645-1654
    • Goldberg, M.F.1    Custis, P.H.2
  • 15
    • 0034112417 scopus 로고    scopus 로고
    • Ocular manifestations of incontinentia pigmenti
    • Holmstrom G., Thoren K. Ocular manifestations of incontinentia pigmenti. Acta Ophthalmol Scand. 78:2000;348-353
    • (2000) Acta Ophthalmol Scand , vol.78 , pp. 348-353
    • Holmstrom, G.1    Thoren, K.2
  • 16
    • 0025642483 scopus 로고
    • Incontinentia pigmenti
    • Catalano R.A. Incontinentia pigmenti. Am J Ophthalmol. 110:1990;696-700
    • (1990) Am J Ophthalmol , vol.110 , pp. 696-700
    • Catalano, R.A.1
  • 18
    • 0036861740 scopus 로고    scopus 로고
    • Incontinentia pigmenti presenting as seizures
    • Hubert J.N., Callen J.P. Incontinentia pigmenti presenting as seizures. Pediatr Dermatol. 19:2002;550-552
    • (2002) Pediatr Dermatol , vol.19 , pp. 550-552
    • Hubert, J.N.1    Callen, J.P.2
  • 19
    • 0025032484 scopus 로고
    • Destructive encephalopathyin incontinentia pigmenti: A primary disorder?
    • Shuper A., Bryan R.N., Singer H.S. Destructive encephalopathyin incontinentia pigmenti a primary disorder? Pediatr Neurol. 6:1990;137-140
    • (1990) Pediatr Neurol , vol.6 , pp. 137-140
    • Shuper, A.1    Bryan, R.N.2    Singer, H.S.3
  • 20
    • 0029062691 scopus 로고
    • Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging
    • Lee A.G., Goldberg M.F., Gillard J.H., et al. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med. 149:1995;573-580
    • (1995) Arch Pediatr Adolesc Med , vol.149 , pp. 573-580
    • Lee, A.G.1    Goldberg, M.F.2    Gillard, J.H.3
  • 21
    • 0141455343 scopus 로고    scopus 로고
    • Bilateral cerebrovascular accidents in incontinentia pigmenti
    • Fiorillo L., Sinclair D.B., O'Byrne M.L., et al. Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol. 29:2003;66-68
    • (2003) Pediatr Neurol , vol.29 , pp. 66-68
    • Fiorillo, L.1    Sinclair, D.B.2    O'Byrne, M.L.3
  • 22
    • 0142248341 scopus 로고    scopus 로고
    • Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti
    • Hennel S.J., Ekert P.G., Volpe J.J., et al. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol. 29:2003;148-150
    • (2003) Pediatr Neurol , vol.29 , pp. 148-150
    • Hennel, S.J.1    Ekert, P.G.2    Volpe, J.J.3
  • 23
    • 0016758135 scopus 로고
    • Incontinentia pigmenti and defective neutrophil chemotaxis
    • Dahl M.V., Matula G., Leonards R., et al. Incontinentia pigmenti and defective neutrophil chemotaxis. Arch Dermatol. 111:1975;1603-1605
    • (1975) Arch Dermatol , vol.111 , pp. 1603-1605
    • Dahl, M.V.1    Matula, G.2    Leonards, R.3
  • 24
    • 0025645755 scopus 로고
    • Immunologic investigations in eight patients with incontinentia pigmenti
    • Menni S., Piccinno R., Biolchini A., et al. Immunologic investigations in eight patients with incontinentia pigmenti. Pediatr Dermatol. 7:1990;275-277
    • (1990) Pediatr Dermatol , vol.7 , pp. 275-277
    • Menni, S.1    Piccinno, R.2    Biolchini, A.3
  • 25
    • 0030426225 scopus 로고    scopus 로고
    • Eosinophilic and neutrophilic spongiosis: Clues to the diagnosis of immunobullous diseases and other inflammatory disorders
    • Machado-Pinto J., McCalmont T.H., Golitz L.E. Eosinophilic and neutrophilic spongiosis Clues to the diagnosis of immunobullous diseases and other inflammatory disorders. Semin Cutan Med Surg. 15:1996;308-316
    • (1996) Semin Cutan Med Surg , vol.15 , pp. 308-316
    • MacHado-Pinto, J.1    McCalmont, T.H.2    Golitz, L.E.3
  • 26
    • 0025054076 scopus 로고
    • Hypochromic reticulated streaks in incontinentia pigmenti: An immunohistochemical and ultrastructural study
    • Nazzaro V., Brusasco A., Gelmetti C., et al. Hypochromic reticulated streaks in incontinentia pigmenti An immunohistochemical and ultrastructural study. Pediatr Dermatolol. 7:1990;174-178
    • (1990) Pediatr Dermatolol , vol.7 , pp. 174-178
    • Nazzaro, V.1    Brusasco, A.2    Gelmetti, C.3
  • 27
    • 0025979842 scopus 로고
    • Hypo- and hyperpigmented areas in incontentia pigmenti: Light and electron microscopic studies
    • Zillikens D., Mehringer A., Lechner W., et al. Hypo- and hyperpigmented areas in incontentia pigmenti Light and electron microscopic studies. Am J Dermatopathol. 13:1991;57-62
    • (1991) Am J Dermatopathol , vol.13 , pp. 57-62
    • Zillikens, D.1    Mehringer, A.2    Lechner, W.3
  • 28
    • 0024594416 scopus 로고
    • Epidermal nevi and the epidermal nevus syndrome
    • Rogers M., McCrossin I., Commens C. Epidermal nevi and the epidermal nevus syndrome. J Am Acad Dermatol. 20:1989;476-488
    • (1989) J Am Acad Dermatol , vol.20 , pp. 476-488
    • Rogers, M.1    McCrossin, I.2    Commens, C.3
  • 30
    • 3643108895 scopus 로고    scopus 로고
    • Hypomelanosis of Ito and mosaicism
    • J.J. Nordlund, R.E. Boissy, & V.J. et al. Hearing. New York: Oxford University Press
    • Kuster W., Ehrig T., Happle R. Hypomelanosis of Ito and mosaicism. Nordlund J.J., Boissy R.E., Hearing V.J.,, et al. The Pigmentary System Physiology and Pathophysiology. 1998;594-601 Oxford University Press, New York
    • (1998) The Pigmentary System: Physiology and Pathophysiology , pp. 594-601
    • Kuster, W.1    Ehrig, T.2    Happle, R.3
  • 31
    • 0029854056 scopus 로고    scopus 로고
    • Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of blaschko
    • Nehal K.S., PeBenito R., Orlow S.J. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of blaschko. Arch Dermatol. 132:1996;1167-1170
    • (1996) Arch Dermatol , vol.132 , pp. 1167-1170
    • Nehal, K.S.1    Pebenito, R.2    Orlow, S.J.3
  • 32
    • 0027933387 scopus 로고
    • Incontinentia pigmenti nomenclature
    • Sybert V.P. Incontinentia pigmenti nomenclature. Am J Hum Genet. 55:1994;209-211
    • (1994) Am J Hum Genet , vol.55 , pp. 209-211
    • Sybert, V.P.1
  • 33
    • 0031687146 scopus 로고    scopus 로고
    • Incontinentia pigmenti versus hypomelanosis of Ito: The whys and wherefores of a confusing issue
    • Happle R. Incontinentia pigmenti versus hypomelanosis of Ito The whys and wherefores of a confusing issue. Am J Med Genet. 79:1998;64-65
    • (1998) Am J Med Genet , vol.79 , pp. 64-65
    • Happle, R.1
  • 34
    • 0025634069 scopus 로고
    • Treatment of proliferative retinopathy associated with incontinentia pigmenti
    • Catalano R.A., Lopatynsky M., Tasman W.S. Treatment of proliferative retinopathy associated with incontinentia pigmenti. Am J Ophthalmol. 110:1990;701-702
    • (1990) Am J Ophthalmol , vol.110 , pp. 701-702
    • Catalano, R.A.1    Lopatynsky, M.2    Tasman, W.S.3
  • 35
    • 0024651107 scopus 로고
    • The gene for incontinentia pigmenti is assigned to Xq28
    • Sefiani A., Abel L., Heuertz S., et al. The gene for incontinentia pigmenti is assigned to Xq28. Genomics. 4:1989;427-429
    • (1989) Genomics , vol.4 , pp. 427-429
    • Sefiani, A.1    Abel, L.2    Heuertz, S.3
  • 36
    • 0028069250 scopus 로고
    • The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
    • Smahi A., Hyden-Granskog C., Peterlin B., et al. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum Mol Genet. 3:1994;273-278
    • (1994) Hum Mol Genet , vol.3 , pp. 273-278
    • Smahi, A.1    Hyden-Granskog, C.2    Peterlin, B.3
  • 37
    • 0033051635 scopus 로고    scopus 로고
    • Isolation of full-length cDNA and chromosomal localization of human MF-kappaB modulator NEMO to Xq28
    • Jin D.Y., Jeang K.T. Isolation of full-length cDNA and chromosomal localization of human MF-kappaB modulator NEMO to Xq28. J Biomed Sci. 6:1999;115-120
    • (1999) J Biomed Sci , vol.6 , pp. 115-120
    • Jin, D.Y.1    Jeang, K.T.2
  • 38
    • 0034713270 scopus 로고    scopus 로고
    • Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti
    • Smahi A., Courtois G., Vabres P., et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. Nature. 405:2000;466-472
    • (2000) Nature , vol.405 , pp. 466-472
    • Smahi, A.1    Courtois, G.2    Vabres, P.3
  • 39
    • 0036771830 scopus 로고    scopus 로고
    • The NF-κB signaling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    • Smahi A., Courtois G., Hadj-Rabia S., et al. The NF-κB signaling pathway in human diseases from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 11:2002;2371-2375
    • (2002) Hum Mol Genet , vol.11 , pp. 2371-2375
    • Smahi, A.1    Courtois, G.2    Hadj-Rabia, S.3
  • 40
    • 0029846444 scopus 로고    scopus 로고
    • Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2
    • Parrish J.E., Scheuerle A.E., Lewis R.A., et al. Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum Molec Genet. 5:1996;1777-1783
    • (1996) Hum Molec Genet , vol.5 , pp. 1777-1783
    • Parrish, J.E.1    Scheuerle, A.E.2    Lewis, R.A.3
  • 41
    • 0022416999 scopus 로고
    • Lyonization and the lines of Blaschko
    • Happle R. Lyonization and the lines of Blaschko. Hum Genet. 70:1985;200-206
    • (1985) Hum Genet , vol.70 , pp. 200-206
    • Happle, R.1
  • 42
    • 0032771724 scopus 로고    scopus 로고
    • Extracutaneous analogies of Blaschko lines
    • Rott H.-D. Extracutaneous analogies of Blaschko lines. Am J Med Genet. 85:1999;338-341
    • (1999) Am J Med Genet , vol.85 , pp. 338-341
    • Rott, H.-D.1
  • 43
    • 0029976817 scopus 로고    scopus 로고
    • An essential role for NF-kappaB in preventing TNF-alpha-induced cell death
    • Beg A.A., Baltimore D. An essential role for NF-kappaB in preventing TNF-alpha-induced cell death. Science. 274:1996;782-784
    • (1996) Science , vol.274 , pp. 782-784
    • Beg, A.A.1    Baltimore, D.2
  • 44
  • 45
    • 0034175632 scopus 로고    scopus 로고
    • Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice
    • Rudolph D., Yeh W.C., Wakeham A., et al. Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice. Genes Dev. 14:2000;854-862
    • (2000) Genes Dev , vol.14 , pp. 854-862
    • Rudolph, D.1    Yeh, W.C.2    Wakeham, A.3
  • 46
    • 0033634663 scopus 로고    scopus 로고
    • Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
    • Makris C., Godfrey V.L., Krahn-Senftleben G., et al. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell. 5:2000;969-979
    • (2000) Mol Cell , vol.5 , pp. 969-979
    • Makris, C.1    Godfrey, V.L.2    Krahn-Senftleben, G.3
  • 47
    • 0033638970 scopus 로고    scopus 로고
    • NEMO/IKK gamma-deficient mice model incontinentia pigmenti
    • Schmidt-Supprian M., Bloch W., et al. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Mol Cell. 5:2000;981-992
    • (2000) Mol Cell , vol.5 , pp. 981-992
    • Schmidt-Supprian, M.1    Bloch, W.2
  • 48
    • 0036239371 scopus 로고    scopus 로고
    • Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti
    • Jean-Baptiste S., O'Toole E.A., Chen M., et al. Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol. 127:2002;470-478
    • (2002) Clin Exp Immunol , vol.127 , pp. 470-478
    • Jean-Baptiste, S.1    O'Toole, E.A.2    Chen, M.3
  • 49
    • 15444357762 scopus 로고    scopus 로고
    • Requirement for NF-κB in osteoclast and B-cell development
    • Franzoso G., Carlson L., Xing L., et al. Requirement for NF-κB in osteoclast and B-cell development. Genes Dev. 11:1997;3482-3496
    • (1997) Genes Dev , vol.11 , pp. 3482-3496
    • Franzoso, G.1    Carlson, L.2    Xing, L.3
  • 50
    • 0030715563 scopus 로고    scopus 로고
    • Osteopetrosis in mice lacking nf-kappa-b1 and nf-kappa-b2
    • Iotsova V., Caamano J., Loy J., et al. Osteopetrosis in mice lacking nf-kappa-b1 and nf-kappa-b2. Nature Med. 3:1997;1285-1289
    • (1997) Nature Med , vol.3 , pp. 1285-1289
    • Iotsova, V.1    Caamano, J.2    Loy, J.3
  • 51
    • 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. 53:1994;153-162
    • (1994) Am J Med Genet , vol.53 , pp. 153-162
    • Pinheiro, M.1    Freire-Maia, N.2
  • 52
    • 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 M.E., Schneider L.C., 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. 67:2000;1555-1562
    • (2000) Am J Hum Genet , vol.67 , pp. 1555-1562
    • Zonana, J.1    Elder, M.E.2    Schneider, L.C.3
  • 53
    • 0035089759 scopus 로고    scopus 로고
    • Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ
    • Aradhya S., Courtois G., Rajkovic A., et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-γ Am J Hum Genet. 68:2001;765-771
    • (2001) Am J Hum Genet , vol.68 , pp. 765-771
    • Aradhya, S.1    Courtois, G.2    Rajkovic, A.3
  • 54
    • 0035286726 scopus 로고    scopus 로고
    • Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohidrotic ectodermal dysplasia
    • Jain A., Ma C.A., Liu S., et al. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohidrotic ectodermal dysplasia. Nature Immunol. 2:2001;223-228
    • (2001) Nature Immunol , vol.2 , pp. 223-228
    • Jain, A.1    Ma, C.A.2    Liu, S.3
  • 55
    • 0035093630 scopus 로고    scopus 로고
    • X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
    • Doffinger R., Smahi A., Bessia C., et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling. Nature Genet. 27:2001;277-285
    • (2001) Nature Genet , vol.27 , pp. 277-285
    • Doffinger, R.1    Smahi, A.2    Bessia, C.3
  • 56
    • 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. 99:2001;172-177
    • (2001) Am J Med Genet , vol.99 , pp. 172-177
    • Mansour, S.1    Woffendin, H.2    Mitton, S.3


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