ArticleAmerican journal of human genetics2001
Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma).
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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36 citing papers in PubMed, 1 synthesis or guideline pooled it, 141 citations in OpenAlex.
- Receptor-interacting protein kinase 1 (RIPK1) as a therapeutic target.Nature reviews. Drug discovery · 2020Pooled it
- Article
- Skin manifestations of inborn errors of NF-κB.Frontiers in pediatrics · 2022Review
- Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.Molecular genetics & genomic medicine · 2020Article
- T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.Journal of clinical immunology · 2020Article
- Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?Dermatology and therapy · 2020Article
- Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency.Immunologic research · 2019Article
- BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency.Acta neuropathologica communications · 2016Article
- Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-κB activation and autoinflammatory disease.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Linear ubiquitination in immunity.Immunological reviews · 2015Review
- IKK-related genetic diseases: probing NF-κB functions in humans and other matters.Cellular and molecular life sciences : CMLS · 2015Review
- Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Immunological reviews · 2015Review
- Incontinentia pigmenti: a rare genodermatosis in a male child.Journal of clinical and diagnostic research : JCDR · 2015Article
- Ubiquitination in disease pathogenesis and treatment.Nature medicine · 2014Review
- Genodermatoses caused by genetic mosaicism.European journal of pediatrics · 2012Review
- Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.Annals of the New York Academy of Sciences · 2011Review
- 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
- Article
- Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency.Clinical microbiology reviews · 2011Review
- Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2011Article
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7 authors at 3 institutions in 2 countries.
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Abstract
Familial incontinentia pigmenti (IP [MIM 308310]), or Bloch-Sulzberger syndrome, is an X-linked dominant and male-lethal disorder. We recently demonstrated that mutations in NEMO (IKK-gamma), which encodes a critical component of the NF-kappaB signaling pathway, were responsible for IP. Virtually all mutations eliminate the production of NEMO, causing the typical skewing of X inactivation in female individuals and lethality in male individuals, possibly through enhanced sensitivity to apoptosis. Most mutations also give rise to classic signs of IP, but, in this report, we describe two mutations in families with atypical phenotypes. Remarkably, each family included a male individual with unusual signs, including postnatal survival and either immune dysfunction or hematopoietic disturbance. We found two duplication mutations in these families, at a cytosine tract in exon 10 of NEMO, both of which remove the zinc (Zn) finger at the C-terminus of the protein. Two deletion mutations were also identified in the same tract in additional families. However, only the duplication mutations allowed male individuals to survive, and affected female individuals with duplication mutations demonstrated random or slight skewing of X inactivation. Similarly, NF-kappaB activation was diminished in the presence of duplication mutations and was completely absent in cells with deletion mutations. These results strongly indicate that male individuals can also suffer from IP caused by NEMO mutations, and we therefore urge a reevaluation of the diagnostic criteria.
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