Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini; Manfred Fliegauf; Nils Klammer; Natalie Frede; Michele Proietti; Alla Bulashevska; Nadezhda Camacho-Ordonez; Markku Varjosalo; Matias Kinnunen; Esther de Vries; Jos W.M. van der Meer; Rohan Ameratunga; Chaim M. Roifman; Yael D. Schejter; Robin Kobbe; Timo Hautala; Faranaz Atschekzei; Reinhold E. Schmidt; Claudia Schröder; Polina Stepensky; Bella Shadur; Luis A. Pedroza; Michiel van der Flier; Mónica Martínez-Gallo; Luis Ignacio Gonzalez-Granado; Luis M. Allende; Anna Shcherbina; Natalia Kuzmenko; Victoria Zakharova; João Farela Neves; Peter Svec; Ute Fischer; Winnie Ip; Oliver Bartsch; Safa Barış; Christoph Klein; Raif Geha; Janet Chou; Mohammed Alosaimi; Lauren Weintraub; Kaan Boztug; Tatjana Hirschmugl; Maria Marluce Dos Santos Vilela; Dirk Holzinger; Maximilian Seidl; Vassilios Lougaris; Alessandro Plebani; Laia Alsina; Monica Piquer-Gibert; Angela Deyà-Martínez; Charlotte A. Slade; Asghar Aghamohammadi; Hassan Abolhassani; Lennart Hammarström; Outi Kuismin; Merja Helminen; Hana Lango Allen; James E. Thaventhiran; Alexandra F. Freeman; Matthew Cook; Shahrzad Bakhtiar; Mette Christiansen; Charlotte Cunningham-Rundles; Niraj C. Patel; William Rae; Tim Niehues; Nina Brauer; Jaana Syrjänen; Mikko R.J. Seppänen; Siobhan O. Burns; Paul Tuijnenburg; Taco W. Kuijpers; Klaus Warnatz; Bodo Grimbacher

doi:10.1016/j.jaci.2019.11.051

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W.M. van der Meer, Rohan Ameratunga, Chaim M. Roifman, Yael D. Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E. Schmidt, Claudia Schröder, Polina StepenskyBella Shadur, Luis A. Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M. Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A. Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E. Thaventhiran, Alexandra F. Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C. Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R.J. Seppänen, Siobhan O. Burns, Paul Tuijnenburg, Taco W. Kuijpers, Klaus Warnatz, Bodo Grimbacher

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	Journal of Allergy and Clinical Immunology
Volume	146
Issue number	4
Pages (from-to)	901-911
Number of pages	11
ISSN	0091-6749
DOIs	https://doi.org/10.1016/j.jaci.2019.11.051
Publication status	Published - Oct 2020
MoE publication type	A1 Journal article-refereed

Fields of Science

3111 Biomedicine
1184 Genetics, developmental biology, physiology
variants and mutations
common variable immunodeficiency
reduced penetrance
variable expressivity
autosomal dominant inheritance
CELLS
NF-KAPPA-B1
NF-kappa B1-related phenotype
NFKB1 variant
HAPLOINSUFFICIENCY
NUCLEAR-FACTOR
NFKB1 mutation
autosomal dominant
NF-KAPPA-B
IMMUNODEFICIENCY

Access to Document

10.1016/j.jaci.2019.11.051

Embargoed Document

1-s2.0-S009167492030422X-main
Accepted author manuscript, 5.6 MB
Licence: CC BY-NC-ND
Embargo ends: 09/04/2021

Cite this

Lorenzini, T., Fliegauf, M., Klammer, N., Frede, N., Proietti, M., Bulashevska, A., Camacho-Ordonez, N., Varjosalo, M., Kinnunen, M., de Vries, E., van der Meer, J. W. M., Ameratunga, R., Roifman, C. M., Schejter, Y. D., Kobbe, R., Hautala, T., Atschekzei, F., Schmidt, R. E., Schröder, C., ... Grimbacher, B. (2020). Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. Journal of Allergy and Clinical Immunology, 146(4), 901-911. https://doi.org/10.1016/j.jaci.2019.11.051

Lorenzini, Tiziana ; Fliegauf, Manfred ; Klammer, Nils ; Frede, Natalie ; Proietti, Michele ; Bulashevska, Alla ; Camacho-Ordonez, Nadezhda ; Varjosalo, Markku ; Kinnunen, Matias ; de Vries, Esther ; van der Meer, Jos W.M. ; Ameratunga, Rohan ; Roifman, Chaim M. ; Schejter, Yael D. ; Kobbe, Robin ; Hautala, Timo ; Atschekzei, Faranaz ; Schmidt, Reinhold E. ; Schröder, Claudia ; Stepensky, Polina ; Shadur, Bella ; Pedroza, Luis A. ; van der Flier, Michiel ; Martínez-Gallo, Mónica ; Gonzalez-Granado, Luis Ignacio ; Allende, Luis M. ; Shcherbina, Anna ; Kuzmenko, Natalia ; Zakharova, Victoria ; Neves, João Farela ; Svec, Peter ; Fischer, Ute ; Ip, Winnie ; Bartsch, Oliver ; Barış, Safa ; Klein, Christoph ; Geha, Raif ; Chou, Janet ; Alosaimi, Mohammed ; Weintraub, Lauren ; Boztug, Kaan ; Hirschmugl, Tatjana ; Dos Santos Vilela, Maria Marluce ; Holzinger, Dirk ; Seidl, Maximilian ; Lougaris, Vassilios ; Plebani, Alessandro ; Alsina, Laia ; Piquer-Gibert, Monica ; Deyà-Martínez, Angela ; Slade, Charlotte A. ; Aghamohammadi, Asghar ; Abolhassani, Hassan ; Hammarström, Lennart ; Kuismin, Outi ; Helminen, Merja ; Allen, Hana Lango ; Thaventhiran, James E. ; Freeman, Alexandra F. ; Cook, Matthew ; Bakhtiar, Shahrzad ; Christiansen, Mette ; Cunningham-Rundles, Charlotte ; Patel, Niraj C. ; Rae, William ; Niehues, Tim ; Brauer, Nina ; Syrjänen, Jaana ; Seppänen, Mikko R.J. ; Burns, Siobhan O. ; Tuijnenburg, Paul ; Kuijpers, Taco W. ; Warnatz, Klaus ; Grimbacher, Bodo. / Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. In: Journal of Allergy and Clinical Immunology. 2020 ; Vol. 146, No. 4. pp. 901-911.

@article{7a332f97d424492da50bf5ca5c15a1b2,

title = "Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology, variants and mutations, common variable immunodeficiency, reduced penetrance, variable expressivity, autosomal dominant inheritance, CELLS, NF-KAPPA-B1, NF-kappa B1-related phenotype, NFKB1 variant, HAPLOINSUFFICIENCY, NUCLEAR-FACTOR, NFKB1 mutation, autosomal dominant, NF-KAPPA-B, IMMUNODEFICIENCY",

author = "Tiziana Lorenzini and Manfred Fliegauf and Nils Klammer and Natalie Frede and Michele Proietti and Alla Bulashevska and Nadezhda Camacho-Ordonez and Markku Varjosalo and Matias Kinnunen and {de Vries}, Esther and {van der Meer}, {Jos W.M.} and Rohan Ameratunga and Roifman, {Chaim M.} and Schejter, {Yael D.} and Robin Kobbe and Timo Hautala and Faranaz Atschekzei and Schmidt, {Reinhold E.} and Claudia Schr{\"o}der and Polina Stepensky and Bella Shadur and Pedroza, {Luis A.} and {van der Flier}, Michiel and M{\'o}nica Mart{\'i}nez-Gallo and Gonzalez-Granado, {Luis Ignacio} and Allende, {Luis M.} and Anna Shcherbina and Natalia Kuzmenko and Victoria Zakharova and Neves, {Jo{\~a}o Farela} and Peter Svec and Ute Fischer and Winnie Ip and Oliver Bartsch and Safa Barı{\c s} and Christoph Klein and Raif Geha and Janet Chou and Mohammed Alosaimi and Lauren Weintraub and Kaan Boztug and Tatjana Hirschmugl and {Dos Santos Vilela}, {Maria Marluce} and Dirk Holzinger and Maximilian Seidl and Vassilios Lougaris and Alessandro Plebani and Laia Alsina and Monica Piquer-Gibert and Angela Dey{\`a}-Mart{\'i}nez and Slade, {Charlotte A.} and Asghar Aghamohammadi and Hassan Abolhassani and Lennart Hammarstr{\"o}m and Outi Kuismin and Merja Helminen and Allen, {Hana Lango} and Thaventhiran, {James E.} and Freeman, {Alexandra F.} and Matthew Cook and Shahrzad Bakhtiar and Mette Christiansen and Charlotte Cunningham-Rundles and Patel, {Niraj C.} and William Rae and Tim Niehues and Nina Brauer and Jaana Syrj{\"a}nen and Sepp{\"a}nen, {Mikko R.J.} and Burns, {Siobhan O.} and Paul Tuijnenburg and Kuijpers, {Taco W.} and Klaus Warnatz and Bodo Grimbacher",

year = "2020",

month = oct,

doi = "10.1016/j.jaci.2019.11.051",

language = "English",

volume = "146",

pages = "901--911",

journal = "Journal of Allergy and Clinical Immunology",

issn = "0091-6749",

publisher = "Mosby Elsevier",

number = "4",

}

Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M , Kinnunen, M, de Vries, E, van der Meer, JWM, Ameratunga, R, Roifman, CM, Schejter, YD, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, RE, Schröder, C, Stepensky, P, Shadur, B, Pedroza, LA, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, LI, Allende, LM, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, JF, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, MM, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, CA, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, HL, Thaventhiran, JE, Freeman, AF, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, NC, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, MRJ, Burns, SO, Tuijnenburg, P, Kuijpers, TW, Warnatz, K & Grimbacher, B 2020, 'Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911. https://doi.org/10.1016/j.jaci.2019.11.051

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. / Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku ; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W.M.; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; van der Flier, Michiel; Martínez-Gallo, Mónica; Gonzalez-Granado, Luis Ignacio; Allende, Luis M.; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, João Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Barış, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deyà-Martínez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarström, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra F.; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C.; Rae, William; Niehues, Tim; Brauer, Nina; Syrjänen, Jaana; Seppänen, Mikko R.J.; Burns, Siobhan O.; Tuijnenburg, Paul; Kuijpers, Taco W.; Warnatz, Klaus; Grimbacher, Bodo.

In: Journal of Allergy and Clinical Immunology, Vol. 146, No. 4, 10.2020, p. 901-911.

Research output: Contribution to journal › Article › Scientific › peer-review

TY - JOUR

T1 - Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

AU - Lorenzini, Tiziana

AU - Fliegauf, Manfred

AU - Klammer, Nils

AU - Frede, Natalie

AU - Proietti, Michele

AU - Bulashevska, Alla

AU - Camacho-Ordonez, Nadezhda

AU - Varjosalo, Markku

AU - Kinnunen, Matias

AU - de Vries, Esther

AU - van der Meer, Jos W.M.

AU - Ameratunga, Rohan

AU - Roifman, Chaim M.

AU - Schejter, Yael D.

AU - Kobbe, Robin

AU - Hautala, Timo

AU - Atschekzei, Faranaz

AU - Schmidt, Reinhold E.

AU - Schröder, Claudia

AU - Stepensky, Polina

AU - Shadur, Bella

AU - Pedroza, Luis A.

AU - van der Flier, Michiel

AU - Martínez-Gallo, Mónica

AU - Gonzalez-Granado, Luis Ignacio

AU - Allende, Luis M.

AU - Shcherbina, Anna

AU - Kuzmenko, Natalia

AU - Zakharova, Victoria

AU - Neves, João Farela

AU - Svec, Peter

AU - Fischer, Ute

AU - Ip, Winnie

AU - Bartsch, Oliver

AU - Barış, Safa

AU - Klein, Christoph

AU - Geha, Raif

AU - Chou, Janet

AU - Alosaimi, Mohammed

AU - Weintraub, Lauren

AU - Boztug, Kaan

AU - Hirschmugl, Tatjana

AU - Dos Santos Vilela, Maria Marluce

AU - Holzinger, Dirk

AU - Seidl, Maximilian

AU - Lougaris, Vassilios

AU - Plebani, Alessandro

AU - Alsina, Laia

AU - Piquer-Gibert, Monica

AU - Deyà-Martínez, Angela

AU - Slade, Charlotte A.

AU - Aghamohammadi, Asghar

AU - Abolhassani, Hassan

AU - Hammarström, Lennart

AU - Kuismin, Outi

AU - Helminen, Merja

AU - Allen, Hana Lango

AU - Thaventhiran, James E.

AU - Freeman, Alexandra F.

AU - Cook, Matthew

AU - Bakhtiar, Shahrzad

AU - Christiansen, Mette

AU - Cunningham-Rundles, Charlotte

AU - Patel, Niraj C.

AU - Rae, William

AU - Niehues, Tim

AU - Brauer, Nina

AU - Syrjänen, Jaana

AU - Seppänen, Mikko R.J.

AU - Burns, Siobhan O.

AU - Tuijnenburg, Paul

AU - Kuijpers, Taco W.

AU - Warnatz, Klaus

AU - Grimbacher, Bodo

PY - 2020/10

Y1 - 2020/10

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

KW - variants and mutations

KW - common variable immunodeficiency

KW - reduced penetrance

KW - variable expressivity

KW - autosomal dominant inheritance

KW - CELLS

KW - NF-KAPPA-B1

KW - NF-kappa B1-related phenotype

KW - NFKB1 variant

KW - HAPLOINSUFFICIENCY

KW - NUCLEAR-FACTOR

KW - NFKB1 mutation

KW - autosomal dominant

KW - NF-KAPPA-B

KW - IMMUNODEFICIENCY

U2 - 10.1016/j.jaci.2019.11.051

DO - 10.1016/j.jaci.2019.11.051

M3 - Article

VL - 146

SP - 901

EP - 911

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 0091-6749

IS - 4

ER -