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Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
Incontinentia pigmenti is a rare X-linked disorder primarily affecting skin, brain, and eyes. It is characterized by a swirled pattern of hyperpigmentation, with a history of preceding vesicles in the newborn.
Mucosal manifestations of immunodeficiencies
Published in Phillip D. Smith, Richard S. Blumberg, Thomas T. MacDonald, Principles of Mucosal Immunology, 2020
Scott Snapper, Jodie Ouahed, Luigi D. Notarangelo
The nuclear factor kappa B (NF-κB) is a multimeric transcription factor that regulates a variety of cellular processes, including innate and adaptive immune responses. Activation of NF-κB is regulated by a complex consisting of two catalytic protein subunits with kinase activity (IKKα and IKKβ) and a regulatory component, IKKγ (also known as NF-κB essential modulator, or NEMO), which function to phosphorylate and deactivate IκB, an inhibitor of NF-κB. NEMO is encoded by a gene (IKBKG) located on the X chromosome. In humans, null IKBKG gene mutations lead to incontinentia pigmenti in heterozygous females, and result in embryonic lethality in males. In contrast, hypomorphic mutations in males result in X-linked immunodeficiency with ectodermal dystrophy. Typical manifestations of the disease include scanty hair, defective tooth formation with conical teeth, nail defects, hypohidrosis, increased susceptibility to recurrent infections (including mycobacterial disease), and aberrant inflammatory responses. Most patients show hypogammaglobulinemia, with reduced IgG levels and defective antibody responses. Impaired T-cell priming and defective cytolytic function of NK cells are also present. There is significant variability in the severity of the clinical phenotype. Treatment is based on immunoglobulin replacement therapy and prompt treatment of infections.
Linear hyperpigmentation
Published in Dimitris Rigopoulos, Alexander C. Katoulis, Hyperpigmentation, 2017
Incontinentia pigmenti almost always occurs in girls and is generally fatal in boys; associated defects are present in 80% of patients. The cutaneous manifestations of incontinentia pigmenti usually progress through four stages.13 The first stage presents with erythema, vesicles, and pustules; the second stage with verrucous lesions; the third stage with hyperpigmented streaks or whorls; and the fourth stage with hypopigmentation, atrophy, and scarring. The hyperpigmentation that characterizes the third stage is present in most patients and usually fades by adolescence.
How do nuclear factor kappa B (NF-κB)1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?
Published in Expert Review of Clinical Immunology, 2023
Nazanin Fathi, Hanieh Mojtahedi, Marzieh Nasiri, Hassan Abolhassani, Mahsa Yousefpour Marzbali, Marzie Esmaeili, Fereshte Salami, Furozan Biglari, Nima Rezaei
NEMO deficiency, which X-linked disease caused by mutations in the IKBKG gene, presents two clinically different diseases, incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia, with immunodeficiency (EDA-ID). EDA-ID patients are hemizygous for a NEMO mutation and always in males. While the complete LOF mutation of NEMO is prenatally lethal in males and causes IP in females because of random X-chromosome inactivation. NEMO deficiency is characterized by antibody deficiency, low NK cell function, and normal T cell numbers and function, and some patients have elevated IgM and IgA [56–58]. EDA-ID suffers from infections most caused by mycobacteria, invasive pyogenic bacteria, and sometimes viruses, parasites, and fungi [59]. Patients with homozygous loss-of-function mutations in IKBKB have the manifestation of hypogammaglobulinemia, an abundance of naïve B and T cells. These patients may have bacterial, viral, or fungal infections with or without exhibiting clinical EDA signs and occasionally CID depending on mutation [60]. Patients with the IkB alpha (IKBA) deficiency experienced variable degrees of EDA-ID as well as a higher risk of developing atypical mycobacterial infections. These patients have similar immunologic profiles of NEMO deficiency [61].
OCT Imaging in Infants
Published in Seminars in Ophthalmology, 2022
Sushma Jayanna, Subhadra Jalali, Tapas R Padhi, Komal Agarwal, Jay Chhablani
Incontinentia pigmenti is an X-linked systemic disorder with nervous and cutaneous involvement. Ocular manifestations include retinal ischemia (both in periphery and posterior pole), neovascularization, vitreous hemorrhage and retinal detachment. OCT shows predominant involvement of the inner retinal layer with intact outer retina and RPE. Inner retinal disorganization with increased foveal/parafoveal thickness are the main features on OCT. In advanced condition, inner retinal thickening corresponding to epiretinal membrane (ERM) and traction involving fovea can be noted.25,26 Area of ischemia can be better appreciated by Fundus fluorescein angiography (FFA) and recently adapted OCTA which has shown flow voids in superficial and deeper retinal plexus with intact choriocapillaris slab corresponding to OCT findings.23,26,27
FEVR phenotype associated with septo-optic dysplasia
Published in Ophthalmic Genetics, 2019
David L. Zhang, Michael P. Blair, Janice L. Zeid, Syeda S.T. Basith, Michael J. Shapiro
The diagnosis of FEVR is historically based on phenotype consisting of temporal retinal avascularity, peripheral fibrovascular proliferation, and traction retinal detachment. The condition must be differentiated from similarly-presenting conditions such as retinopathy of prematurity, incontinentia pigmenti, sickle cell retinopathy, and other syndromes. Our patient displays features consistent with the FEVR phenotype: full-term birth, peripheral vascular nonperfusion, neovascularization, and traction retinal detachment.