ArticleHuman genetics2005
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- Systematic review of central nervous system anomalies in incontinentia pigmenti.Orphanet journal of rare diseases · 2013Pooled it
- Dental and oral anomalies in incontinentia pigmenti: a systematic review.Clinical oral investigations · 2013Pooled it
- Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.Journal of clinical medicine · 2025Article
- Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.Orphanet journal of rare diseases · 2024Article
- Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.Journal of clinical immunology · 2024Article
- NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.Journal of clinical immunology · 2024Article
- An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.Journal of clinical immunology · 2023Article
- The Impact of theDiagnostics (Basel, Switzerland) · 2023Article
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- Cutaneous mosaicism: Special considerations for women.International journal of women's dermatology · 2021Review
- Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.Diagnostics (Basel, Switzerland) · 2021Article
- T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Journal of clinical immunology · 2020Article
- What's Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses.Frontiers in immunology · 2020Review
- Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.Bone · 2019Article
- Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.Journal of clinical immunology · 2017Article
- Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.Clinical immunology (Orlando, Fla.) · 2016Article
- Primary immunodeficiencies associated with eosinophilia.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2016Review
- Importance of long-time simulations for rare event sampling in zinc finger proteins.Journal of biomolecular structure & dynamics · 2016Article
- NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.The Journal of allergy and clinical immunology · 2011Article
- Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Clinical microbiology reviews · 2011Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Incontinentia pigmenti is an X-linked genodermatosis, lethal in males. Affected females survive because of X-chromosome dizygosity and negative selection of cells carrying the mutant X-chromosome, and for this reason the skewed X inactivation pattern is often used to confirm the diagnosis. The most frequent mutation is a deletion of part of the NEMO gene (NEMODelta4-10), although other mutations have been reported. Mutations of NEMO which do not abolish NF-kappaB activity totally permit male survival, causing an allelic variant of IP called hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). We present a non-classical IP female patient who also suffered transient immunodeficiency because of a late and progressive selection against peripheral blood cells carrying an active mutated X-chromosome. This finding suggests that in the absence of known mutation the X-inactivation studies used in genetic counselling can induce mistakes with some female patients. At the age of 3 years and 6 months, all immunodeficiency signs disappeared, and the X-chromosome inactivation pattern was completely skewed. The low T cell proliferation and CD40L expression corroborate the important role of NEMO/ NF-kappaB pathway in T cell homeostasis. The decreased NEMO protein amount and the impaired IkBalpha degradation suggest that this new mutation, NM_003639: c.1049dupA, causes RNA or protein instability. To our knowledge, this is the first time that selection against the mutated X-chromosome in X-linked disease has been documented in vivo.
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