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growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

MONDO:0100219

Also known as:GHISID2growth hormone insensitivity with immune dysregulation 2, autosomal dominant

Overview

GeneticsAutosomal dominant · STAT5B (chr 17)

ResearchLimited published research (5 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 very common findings: Increased circulating IgE concentration; and common findings: Microcephaly, Short stature, Recurrent infections, and Decreased serum insulin-like growth factor 1 and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	3	Short stature, Decreased serum insulin-like growth factor 1, Postnatal growth retardation

Genetic Landscape

STAT5B function has not been fully characterized.

Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant has been associated with mutations in the STAT5B gene on chromosome 17.

Diagnosis

Genetic testing for STAT5B is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 5 common features.

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 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant.

5 publications have been identified in PubMed for growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant. Research spans Review / Meta-Analysis (80%) and Other (20%).

Recent Publications

Chuleerarux N (2025). [PMID: 39859044](https://pubmed.ncbi.nlm.nih.gov/39859044/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Taietti I (2025). [PMID: 39945219](https://pubmed.ncbi.nlm.nih.gov/39945219/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
Thakur V (2025). [PMID: 40666020](https://pubmed.ncbi.nlm.nih.gov/40666020/). *Front Allergy*. [Review / Meta-Analysis]
Plachy L (2024). [PMID: 39749023](https://pubmed.ncbi.nlm.nih.gov/39749023/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 1:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618985

GARD

Genetic and Rare Diseases Info Center

GARD:18312

Questions for Your Care Team

→Should I pursue genetic testing for STAT5B, and what would the results mean for my family?
→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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growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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