Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

Cyrill Schipp; Schafiq Nabhani; Kirsten Bienemann; Natalia Simanovsky; Shlomit Kfir-Erenfeld; Nathalie Assayag-Asherie; Prasad T. Oommen; Shoshana Revel-Vilk; Andrea Hönscheid; Michael Gombert; Sebastian Ginzel; Daniel Schäfer; Hans Jürgen Laws; Eitan Yefenof; Bernhard Fleckenstein; Arndt Borkhardt; Polina Stepensky; Ute Fischer

doi:10.3324/haematol.2016.145136

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

Cyrill Schipp, Schafiq Nabhani, Kirsten Bienemann, Natalia Simanovsky, Shlomit Kfir-Erenfeld, Nathalie Assayag-Asherie, Prasad T. Oommen, Shoshana Revel-Vilk, Andrea Hönscheid, Michael Gombert, Sebastian Ginzel, Daniel Schäfer, Hans Jürgen Laws, Eitan Yefenof, Bernhard Fleckenstein, Arndt Borkhardt, Polina Stepensky, Ute Fischer^*

^*Corresponding author for this work

Institute for Medical Research Israel-Canada (IMRIC)

Research output: Contribution to journal › Letter › peer-review

38 Scopus citations

Original language	English
Pages (from-to)	e392-e396
Journal	Haematologica
Volume	101
Issue number	10
DOIs	https://doi.org/10.3324/haematol.2016.145136
State	Published - 30 Sep 2016

Keywords

Antibody deficiency
Autoimmune lymphoproliferative syndrome
Autoinflammatory disease
Fas
Immunodeficiency
NFKB

Access to Document

10.3324/haematol.2016.145136

Cite this

Schipp, C., Nabhani, S., Bienemann, K., Simanovsky, N., Kfir-Erenfeld, S., Assayag-Asherie, N., Oommen, P. T., Revel-Vilk, S., Hönscheid, A., Gombert, M., Ginzel, S., Schäfer, D., Laws, H. J., Yefenof, E., Fleckenstein, B., Borkhardt, A., Stepensky, P., & Fischer, U. (2016). Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans. Haematologica, 101(10), e392-e396. https://doi.org/10.3324/haematol.2016.145136

@article{12e19d35c2ca420b8516b71f5ba8efe4,

title = "Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans",

keywords = "Antibody deficiency, Autoimmune lymphoproliferative syndrome, Autoinflammatory disease, Fas, Immunodeficiency, NFKB",

author = "Cyrill Schipp and Schafiq Nabhani and Kirsten Bienemann and Natalia Simanovsky and Shlomit Kfir-Erenfeld and Nathalie Assayag-Asherie and Oommen, {Prasad T.} and Shoshana Revel-Vilk and Andrea H{\"o}nscheid and Michael Gombert and Sebastian Ginzel and Daniel Sch{\"a}fer and Laws, {Hans J{\"u}rgen} and Eitan Yefenof and Bernhard Fleckenstein and Arndt Borkhardt and Polina Stepensky and Ute Fischer",

year = "2016",

month = sep,

day = "30",

doi = "10.3324/haematol.2016.145136",

language = "אנגלית",

volume = "101",

pages = "e392--e396",

journal = "Haematologica",

issn = "0390-6078",

publisher = "Ferrata Storti Foundation",

number = "10",

}

Schipp, C, Nabhani, S, Bienemann, K, Simanovsky, N, Kfir-Erenfeld, S, Assayag-Asherie, N, Oommen, PT, Revel-Vilk, S, Hönscheid, A, Gombert, M, Ginzel, S, Schäfer, D, Laws, HJ, Yefenof, E, Fleckenstein, B, Borkhardt, A, Stepensky, P & Fischer, U 2016, 'Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans', Haematologica, vol. 101, no. 10, pp. e392-e396. https://doi.org/10.3324/haematol.2016.145136

TY - JOUR

T1 - Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

AU - Schipp, Cyrill

AU - Nabhani, Schafiq

AU - Bienemann, Kirsten

AU - Simanovsky, Natalia

AU - Kfir-Erenfeld, Shlomit

AU - Assayag-Asherie, Nathalie

AU - Oommen, Prasad T.

AU - Revel-Vilk, Shoshana

AU - Hönscheid, Andrea

AU - Gombert, Michael

AU - Ginzel, Sebastian

AU - Schäfer, Daniel

AU - Laws, Hans Jürgen

AU - Yefenof, Eitan

AU - Fleckenstein, Bernhard

AU - Borkhardt, Arndt

AU - Stepensky, Polina

AU - Fischer, Ute

PY - 2016/9/30

Y1 - 2016/9/30

KW - Antibody deficiency

KW - Autoimmune lymphoproliferative syndrome

KW - Autoinflammatory disease

KW - Fas

KW - Immunodeficiency

KW - NFKB

UR - http://www.scopus.com/inward/record.url?scp=84989318857&partnerID=8YFLogxK

U2 - 10.3324/haematol.2016.145136

DO - 10.3324/haematol.2016.145136

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.letter???

C2 - 27365489

AN - SCOPUS:84989318857

SN - 0390-6078

VL - 101

SP - e392-e396

JO - Haematologica

JF - Haematologica

IS - 10

ER -

Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

Keywords

Access to Document

Other files and links

Cite this