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lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

MONDO:0012757

Also known as:immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis

Overview

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.

GeneticsAutosomal recessive

ResearchLimited published research (2 articles)

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: Decreased circulating total IgM, Secundum atrial septal defect, Gonadal dysgenesis, and Absent tonsils and 8 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Secundum atrial septal defect
Lungs and breathing

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome.

2 publications have been identified in PubMed for lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Ding L (2025). [PMID: 40931513](https://pubmed.ncbi.nlm.nih.gov/40931513/). *Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology*. [Case Report / Case Series]
Li Y (2024). [PMID: 39080077](https://pubmed.ncbi.nlm.nih.gov/39080077/). *Journal of cancer research and clinical oncology*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611926

Orphanet

European rare disease database

Orphanet:137631

GARD

Genetic and Rare Diseases Info Center

GARD:16947

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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