医中誌リンクサービス


文献リスト

1)Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011; 2: 54
医中誌リンクサービス
2)Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2014; 5: 162
医中誌リンクサービス
3)Ramoz N, Rueda LA, Bouadjar B, et al. Mutations in two adjacent novel genes are associated with epidermodysplasia varruciformis. Nat Genet. 2002; 32: 579-81
PubMed CrossRef
医中誌リンクサービス
4)Crequer A, Troeger A, Patin E, et al. Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest. 2012; 122: 3239-47
PubMed CrossRef
医中誌リンクサービス
5)Crequer A, Picard C, Patin E, et al. Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One. 2012; 7: e44010
CrossRef
医中誌リンクサービス
6)Abdollahpour H, Appaswamy G, Kotlarz D, et al. The phenotype of human STK4 deficiency. Blood. 2012; 119: 3450-7
PubMed CrossRef
医中誌リンクサービス
7)Nehme NT, Schmid JP, Debeurme F, et al. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naïve T-cell survival. Blood. 2012; 119: 3458-68
PubMed CrossRef
医中誌リンクサービス
8)Hauck F, Randriamampita C, Martin E, et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J Allergy Clin Immunol. 2012; 130: 1144-52.e11
PubMed CrossRef
医中誌リンクサービス
9)Gorska MM, Alam R. A mutation in the human uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. Blood. 2012; 119: 1399-406
PubMed CrossRef
医中誌リンクサービス
10)Angulo I, Vadas O, Garçon F, et al. Phosphoinositide 3-kinase δ gene mutation predispose to respiratory infection and airway damage. Science. 2013; 342: 866-71
PubMed CrossRef
医中誌リンクサービス
11)Lucas CL, Kuehn HS, Zhao F, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p100δ result in T cell senescence and human immunodeficiency. Nat Immunol. 2014; 15: 88-97
PubMed
医中誌リンクサービス
12)Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012; 130: 481-8
医中誌リンクサービス
13)Alangari A, Alsultan A, Adly N, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012; 130: 481-8
PubMed CrossRef
医中誌リンクサービス
14)van Montfrans JM, Hoepelman AI, Otto S, et al. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J Allergy Clin Immunol. 2012; 129: 787-93
PubMed CrossRef
医中誌リンクサービス
15)Salzer E, Daschkey S, Choo S, et al. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica. 2013; 98: 473-8
PubMed CrossRef
医中誌リンクサービス
16)Lanzi G, Moratto D, Vairo D, et al. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med. 2012; 209: 29-34
PubMed CrossRef
医中誌リンクサービス
17)Gineau L, Cognet C, Kara N, et al. Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. J Clin Invest. 2012; 122: 821-32
PubMed CrossRef
医中誌リンクサービス
18)Hughes CR, Guasti L, Meimaridou E, et al. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency. J Clin Invest. 2012; 122: 814-20
PubMed CrossRef
医中誌リンクサービス
19)Keller MD, Ganesh J, Helzer M, et al. Severe combined immunodeficiency resulting from mutations in MTHFD1. Pediatrics. 2013; 131: e629-34
PubMed CrossRef
医中誌リンクサービス
20)Kishimoto K, Kobayashi R, Sano H, et al. Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption. Clin Immunol. 2014; 153: 17-22
PubMed CrossRef
医中誌リンクサービス
21)Conely ME, Dobbs AK, Quintana AM, et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. J Exp Med. 2012; 209: 463-70
PubMed CrossRef
医中誌リンクサービス
22)Dobbs AK, Bosompem A, Coustan-Smith E, et al. Agammaglobulinemia associated with BCR- B cells and enhanced expression of CD19. Blood. 2011; 118: 1828-37
PubMed CrossRef
医中誌リンクサービス
23)Boissson B, Wang YD, Bosompem A, et al. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR- B cells. J Clin Invest. 2013; 123: 4781-5
PubMed CrossRef
医中誌リンクサービス
24)Thiel J, Kimmig L, Salzer U, et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J Allergy Clin Immunol. 2012; 129: 801-10
PubMed CrossRef
医中誌リンクサービス
25)Oda H, Nakagawa K, Abe J, et al. Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014; 95: 121-5
PubMed CrossRef
医中誌リンクサービス
26)Rice GI, del Toro Duany Y, Jenkinson EM, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014; 46: 503-9
PubMed CrossRef
医中誌リンクサービス
27)Vilboux T, Lev A, Malicdan MC, et al. A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med. 2013; 369: 54-65
PubMed CrossRef
医中誌リンクサービス
28)Bogunovic D, Byun M, Durfee LA, et al. Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science. 2012; 337: 1684-8
PubMed CrossRef
医中誌リンクサービス
29)Sancho-Shimizu V, Perez de Diego R, Lorenzo L, et al. Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. J Clin Invest. 2011; 121: 4889-902
PubMed CrossRef
医中誌リンクサービス
30)Herman M, Ciancaelli M, Ou YH, et al. Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. J Exp Med. 2012; 209: 1567-82
PubMed CrossRef
医中誌リンクサービス
31)Koss M, Bolze A, Brendolan A, et al. Congenital asplenia in mice and humans with mutations in Pbx/Nkx2-5/p15 module. Dev Cell. 2012; 22: 913-22
PubMed CrossRef
医中誌リンクサービス
32)Bolze A, Mahlaoui N, Byun M, et al. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science. 2013; 340: 976-8
PubMed CrossRef
医中誌リンクサービス
33)Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin-36-receptor antagonist deficiency and generalized pustler psoriasis. N Engl J Med. 2011; 365: 620-8
PubMed CrossRef
医中誌リンクサービス
34)Onoufriadis A, Simpson MA, Pink AE, et al. Mutations in IL36RN/IL1F5 are assosiated with the severe episodic inflammatory skin disease known as generalized pustler psoriasis. Am J Hum Genet. 2011; 89: 432-7
PubMed CrossRef
医中誌リンクサービス
35)Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012; 366: 330-8
PubMed CrossRef
医中誌リンクサービス
36)Zhou Q, Lee GS, Brady J, et al. A hypermorphic missense mutation in PLCG2, encoding phosphlipase Cγ2, causes a dominantly inherited autoinflmmatory disease with immunodeficiency. Am J Hum Genet. 2012; 91: 713-20
PubMed CrossRef
医中誌リンクサービス


NPO医学中央雑誌刊行会
https://www.jamas.or.jp/
info@jamas.or.jp