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22. Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO). Haverkamp MH; Marciano BE; Frucht DM; Jain A; van de Vosse E; Holland SM J Clin Immunol; 2014 May; 34(4):436-43. PubMed ID: 24682681 [TBL] [Abstract][Full Text] [Related]
23. Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen. Tono C; Takahashi Y; Terui K; Sasaki S; Kamio T; Tandai S; Sato T; Kudo K; Toki T; Tachibana N; Yoshioka T; Nakahata T; Morio T; Nishikomori R; Ito E Bone Marrow Transplant; 2007 Jun; 39(12):801-4. PubMed ID: 17417663 [No Abstract] [Full Text] [Related]
24. A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). Roberts CM; Angus JE; Leach IH; McDermott EM; Walker DA; Ravenscroft JC Eur J Pediatr; 2010 Nov; 169(11):1403-7. PubMed ID: 20499091 [TBL] [Abstract][Full Text] [Related]
25. X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Mancini AJ; Lawley LP; Uzel G Arch Dermatol; 2008 Mar; 144(3):342-6. PubMed ID: 18347290 [TBL] [Abstract][Full Text] [Related]
27. EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation. Fusco F; Pescatore A; Conte MI; Mirabelli P; Paciolla M; Esposito E; Lioi MB; Ursini MV Int Rev Immunol; 2015; 34(6):445-59. PubMed ID: 26269396 [TBL] [Abstract][Full Text] [Related]
28. Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. Dupuis-Girod S; Cancrini C; Le Deist F; Palma P; Bodemer C; Puel A; Livadiotti S; Picard C; Bossuyt X; Rossi P; Fischer A; Casanova JL Pediatrics; 2006 Jul; 118(1):e205-11. PubMed ID: 16769798 [TBL] [Abstract][Full Text] [Related]
29. 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 Nat Immunol; 2001 Mar; 2(3):223-8. PubMed ID: 11224521 [TBL] [Abstract][Full Text] [Related]
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33. OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH. Ricci S; Romano F; Nieddu F; Picard C; Azzari C J Clin Immunol; 2017 Jan; 37(1):7-11. PubMed ID: 27838798 [No Abstract] [Full Text] [Related]
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37. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Mansour S; Woffendin H; Mitton S; Jeffery I; Jakins T; Kenwrick S; Murday VA Am J Med Genet; 2001 Mar; 99(2):172-7. PubMed ID: 11241484 [TBL] [Abstract][Full Text] [Related]
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