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autoinflammatory disease, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autoinflammatory disease, X-linked

MONDO:0800129

Also known as:NEMO deleted exon 5 syndrome

Overview

An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.

GeneticsX-linked · IKBKG (chr X)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Cerebral hemorrhage, Decreased circulating immunoglobulin concentration, Decreased total B cell count, and Panniculitis and others; and common findings: Decreased circulating total IgM, Chorioretinitis, Panuveitis, and Anterior uveitis and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Anterior uveitis, Optic neuritis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IKBKG encodes inhibitor of nuclear factor kappa B kinase regulatory subunit gamma (419 aa). Regulatory subunit of the IKK core complex which phosphorylates inhibitors of NF-kappa-B thus leading to the dissociation of the inhibitor/NF-kappa-B complex and ultimately the degradation of the inhibitor. Highest expression in Cells Cultured fibroblasts (7.4 TPM) and Whole Blood (7.3 TPM).

Autoinflammatory disease, X-linked is associated with mutations in the IKBKG gene on chromosome X.

The IKBKG protein participates in IKBKG *420Wext*447 pathway.

IKBKG is classified as a druggable target (Druggable Genome and Kinase categories) with score 4.4.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Incontinentia pigmenti (IP) should be suspected in individuals with characteristic clinical findings of the skin, teeth, hair, nails, eyes, and CNS, and family history as detailed below.

Major criteria (skin lesions that occur in stages from infancy to adulthood)

Source: GeneReviews — "Incontinentia Pigmenti"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autoinflammatory disease, X-linked. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with incontinentia pigmenti (IP), the following evaluations are recommended if they have not already been completed:

Physical examination with particular emphasis on the skin, hair, nails, and neurologic system to establish the presence and extent of manifestations

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

No schedule for eye examinations has been established, but the following has been suggested:

Monthly until age three to four months
Every three months between ages four months and one year
Every six months between ages one and three years

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autoinflammatory disease, X-linked.

187 publications have been identified in PubMed for autoinflammatory disease, X-linked. Kisho has analyzed 113 by research type. Research spans Review / Meta-Analysis (45%), Case Report / Case Series (20%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Research summaries	51	45%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301081

Questions for Your Care Team

→Should female family members consider carrier screening for IKBKG?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

autoinflammatory disease, X-linked

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

Recent Publications

autoinflammatory disease, X-linked

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

Recent Publications