Associated Papers
Clinical and genetic spectrum of inborn errors of immunity: a retrospective study on outcomes at a single center.
Kose H et al.
Frontiers in Immunology, 2026
Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.
Pavone P et al.
Journal of Child Neurology, 2025
Clinical relevance of loss-of-function mutations of NEMO/IKBKG.
Wang J et al.
Genes & Diseases, 2025
[Application of long-read sequencing based haplotype construction in preimplantation genetic testing for a patient with Incontinentia pigmenti].
Ma W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Detection of variants IKBKG exon4-10 del and c.1167dupC using a novel gene-specific gap-PCR and long accurate-PCR in two families with incontinentia pigmenti.
Leng X et al.
Indian Journal of Dermatology, Venereology and Leprology, 2025
Pitfalls of genetic testing in a patient with IKBKG deficiency.
Kilich G et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024
An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.
Chen M et al.
Npj Genomic Medicine, 2024
Ethnically unique disease burden and limitations of current expanded carrier screening panels.
Chen CL et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2024
Variable clinical consequences of mosaicism for c.1167dupC in IKBKG in male and female patients with incontinentia pigmenti and related phenotypes.
Acos RLC et al.
Clinical and Experimental Dermatology, 2024
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency.
Ichimiya Y et al.
Journal of Clinical Immunology, 2019
Hematopoietic stem cell transplantation for RelB deficiency.
Ovadia A et al.
The Journal of Allergy and Clinical Immunology, 2017
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C et al.
Blood, 2017
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Ohnishi H et al.
Journal of Clinical Immunology, 2017
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A et al.
The Journal of Allergy and Clinical Immunology, 2017
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI et al.
Human Mutation, 2014
NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.
Audry M et al.
The Journal of Allergy and Clinical Immunology, 2011
Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency.
Minakawa S et al.
Clinical and Experimental Dermatology, 2009
Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.
Fish JD et al.
Bone Marrow Transplantation, 2009
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Villa A et al.
Calcified Tissue International, 2009
Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.
Permaul P et al.
Immunologic Research, 2009
Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.
Hanson EP et al.
The Journal of Allergy and Clinical Immunology, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway.
Chang TT et al.
Journal of the American Academy of Dermatology, 2008
X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.
Filipe-Santos O et al.
The Journal of Experimental Medicine, 2006
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.
Döffinger R et al.
Nature Genetics, 2001