Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hematopoietic and lymphoid system neoplasm - Clinical Profile, Genes & Research | Kisho | Kisho

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

STAT3 hyper IgE syndrome (STAT3-HIES) should be suspected in individuals with the following findings:

Newborn rash and typically eczematous rash at least through childhood
Recurrent skin boils (often "cold," manifesting little inflammatory reaction)
Cyst-forming pneumonias
Mucocutaneous candidiasis
Nonimmune features such as three or more retained primary teeth, scoliosis, bone fractures following minimal trauma, hyperextensibility of joints, characteristic facial appearance, increased nasal width, high palate
Laboratory test results showing:
Elevations of serum concentration of immunoglobulin E (IgE) to levels above 2000 IU/mL (normal 100 IU/mL in adults);
Eosinophilia (700/L);
Diminished circulating memory T and B cells and near absence of IL-17-producing Th17 cells.

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

GeneReviews

Differential Diagnosis

Table 2. Disorders with Elevated Serum Concentration of IgE to Consider in the Differential Diagnosis of STAT3 Hyper IgE Syndrome

Gene(s)	Disorder	MOI	Additional Clinical Features of Differential Disorder
Overlapping w/STAT3-HIES	Distinguishing from STAT3-HIES CARD141FLG2	Atopic dermatitis3	ADAR4
CARD11	Immunodeficiency 11B w/atopic dermatitis5 (OMIM 617638)

Biomarker and diagnostic research for hematopoietic and lymphoid system neoplasm has been reported in the published literature.

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 hematopoietic and lymphoid system neoplasm. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with STAT3 hyper IgE syndrome (STAT3-HIES), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with STAT3 Hyper IgE Syndrome

System/Concern	Evaluation	Comment
Skin	Dermatologic exam	Newborn rash eczema during childhood; often improves w/age
Pulmonary	Chest imaging	Detection of bronchiectasis pneumatoceles
Skeletal	Eval for scoliosis osteoporosis	Scoliosis typically progresses through adolescence.; Osteoporosis can be present in children adults; DXA screening recommended.
Dental	Dental exam for possible retention of primary teeth	—
Vascular	Screening for coronary artery cerebral artery aneurysms	Aneurysms much more common in adults than in children; Screening by brain MRA heart CTA or coronary artery MRA every 3 yrs recommended for adolescents adults

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

Clinical Trials

30 trials found

Explore Trials

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with STAT3 Hyper IgE Syndrome

System/Concern	Evaluation	Frequency
Skin	Dermatology exam culture of skin lesions	As needed
Pulmonary	High index of suspicion for infection	Lifelong Periodic chest imaging
Skeletal	Scoliosis eval	Through adolescence
Dental	Monitor for emergence of secondary teeth possible need for removal of primary teeth	Every 6-12 mos during childhood Vascular
Other	Monitor for lymphadenopathy, or masses due to incidence of lymphoma	Annually

Source: GeneReviews — "STAT3 Hyper IgE Syndrome"

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.

30 clinical trials registered, 16 recruiting. Interventions under study include other interventions, procedural interventions, drug therapy, and biologic therapy. Pipeline includes 1 PHASE3, 5 PHASE2, 3 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06151730](https://clinicaltrials.gov/study/NCT06151730)	Evaluation of Hypertension Management and Cardiovascular Adverse Event Prevention in Patients With B-cell Malignancies Undergoing Treatment With Bruton Tyrosine Kinase Inhibitors, the HALT Study	—	Mayo Clinic	RECRUITING
[NCT05584449](https://clinicaltrials.gov/study/NCT05584449)	Group Curriculum for Improving Survivorship Outcomes in Adolescent and Young Adult Cancer Survivors	NA	Mayo Clinic	RECRUITING
[NCT05969860](https://clinicaltrials.gov/study/NCT05969860)	At-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer	PHASE2	Mayo Clinic	RECRUITING
[NCT06059391](https://clinicaltrials.gov/study/NCT06059391)	CMV-MVA Triplex Vaccination in HLA-Matched Related Stem Cell Donors for the Prevention of CMV Infection in Patients Undergoing Hematopoietic Stem Cell Transplant	PHASE2	City of Hope Medical Center	RECRUITING
[NCT06246955](https://clinicaltrials.gov/study/NCT06246955)	Acceptance and Commitment Therapy and Compassion-Based Virtual Group Therapy to Improve Psychological Wellbeing in Patients With Cancer	NA	Mayo Clinic	RECRUITING

417 publications have been identified in PubMed for hematopoietic and lymphoid system neoplasm. Research spans Review / Meta-Analysis (47%), Epidemiology / Natural History (14%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Research summaries	198	47%
Disease patterns and progression	59	14%
Laboratory research	40	10%
Patient case studies	36	9%
Other research	24	6%
Clinical study results	24

Recent Publications

Wang B (2026). [PMID: 41534494](https://pubmed.ncbi.nlm.nih.gov/41534494/). *Biochem Biophys Res Commun*. [Review / Meta-Analysis]
Lübke J (2026). [PMID: 41005704](https://pubmed.ncbi.nlm.nih.gov/41005704/). *J Allergy Clin Immunol Pract*. [Epidemiology / Natural History]
Peterson JF (2026). [PMID: 42457191](https://pubmed.ncbi.nlm.nih.gov/42457191/). *Arch Pathol Lab Med*. [Review / Meta-Analysis]
Yuan T (2026). [PMID: 41800261](https://pubmed.ncbi.nlm.nih.gov/41800261/). *Int J Biol Sci*. [Review / Meta-Analysis]
Chen S (2026). [PMID: 41396587](https://pubmed.ncbi.nlm.nih.gov/41396587/). *Hematol Oncol*. [Clinical Trial Publication]
Dye B (2026). [PMID: 41115502](https://pubmed.ncbi.nlm.nih.gov/41115502/). *Am J Med Sci*. [Review / Meta-Analysis]
Hong Z (2026). [PMID: 41953024](https://pubmed.ncbi.nlm.nih.gov/41953024/). *Front Immunol*. [Review / Meta-Analysis]
Yang M (2026). [PMID: 42441512](https://pubmed.ncbi.nlm.nih.gov/42441512/). *Am J Case Rep*. [Case Report / Case Series]
Gariazzo C (2026). [PMID: 42444463](https://pubmed.ncbi.nlm.nih.gov/42444463/). *Epidemiol Prev*. [Epidemiology / Natural History]
Rong Z (2026). [PMID: 42405367](https://pubmed.ncbi.nlm.nih.gov/42405367/). *J Brown Hosp Med*. [Case Report / Case Series]

Kisho

hematopoietic and lymphoid system neoplasm

Overview

Clinical Presentation

Clinical Guidance

Presentation

Immunologic Characteristics

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Questions for Your Care Team

Questions for Your Care Team

hematopoietic and lymphoid system neoplasm

Overview

Clinical Presentation

Clinical Guidance

Presentation

Immunologic Characteristics

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team