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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Synd...

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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Synd...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3153779454

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

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Full title

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

Author / Creator

Eigemann, Jessica , Janda, Ales , Schuetz, Catharina , Lee-Kirsch, Min Ae , Schulz, Ansgar , Hoenig, Manfred , Furlan, Ingrid , Jacobsen, Eva-Maria , Zinngrebe, Julia , Peters, Sarah , Drewes, Cosima , Siebert, Reiner , Rump, Eva-Maria , Führer, Marita , Lorenz, Myriam , Pannicke, Ulrich , Kölsch, Uwe , Debatin, Klaus-Michael , von Bernuth, Horst , Schwarz, Klaus and Felgentreff, Kerstin

Publisher

New York: Springer US

Journal title

Journal of clinical immunology, 2025-12, Vol.45 (1), p.1-1, Article 1

Language

English

Formats

Articles

Publication information

Publisher

New York: Springer US

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Purpose
Genetic hypomorphic defects in X chromosomal
IKBKG
coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in males and the skin disorder incontinentia pigmenti (IP) in females, respectively. NF-κB essential modulator (NEMO) Δ-exon 5-autoinflammatory syndrome (NEMO-NDAS) is a systemic autoi...

Alternative Titles

Full title

Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

Authors, Artists and Contributors

Author / Creator

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Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_3153779454

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3153779454

Other Identifiers

ISSN

0271-9142,1573-2592

E-ISSN

1573-2592

DOI

10.1007/s10875-024-01799-2

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