Clinical and Mechanistic Study of Pediatric Atopic Dermatitis-like Manifestations Caused by JAK1 Gain-of-Function Mutation

Status

Recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2600131436

Enrollment

Unknown

Registered

2026-09-02

Start date

2026-08-09

Completion date

Unknown

Last updated

2026-09-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Atopic dermatitis-like skin lesions

Interventions

Main study group (JAK1 mutant group):None

Common atopic dermatitis group:None

Normal healthy control group:None

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: 1. Primary Study Group (JAK1 Mutation Group): (1)Present with atopic dermatitis-like skin lesions, resistant to conventional atopic dermatitis treatment, with recurrent episodes; (2)Novel JAK1 mutation identified by whole-exome sequencing; (3)Age <=18 years. 2. Conventional Atopic Dermatitis Group: (1)Meet the diagnostic criteria for atopic dermatitis; (2)Age and gender matched with JAK1 mutation patients; (3)No definitive JAK1 gain-of-function mutation or other known immunodeficiency-related gene mutations. 3. Normal Healthy Control Group: (1)Healthy children with no history of allergic diseases such as rhinitis, atopic dermatitis, or asthma, no history of autoimmune diseases, and no use of hormones or immunosuppressants within the past 6 months; (2)Age and gender matched with the JAK1 mutation patient group.

Exclusion criteria

Exclusion criteria: 1. Main study group (JAK1 mutant group): (1)Co-existing with other known monogenic immunodeficiency diseases; (2)Use of JAK inhibitors within the past 3 months. 2. Common atopic dermatitis group: (1)Use of JAK inhibitors within the past 3 months; (2)Confirmed to carry pathogenic mutations in JAK1 or JAK-STAT pathway-related genes by genetic testing. 3. Normal healthy control group: (1)A family history of atopic dermatitis or autoimmune diseases in first-degree relatives; (2)Confirmed to carry pathogenic mutations in JAK1 or immune-related genes by genetic testing.

Design outcomes

Primary

Measure	Time frame
Percentages (%) and absolute counts (cells/µL) of lymphocyte subsets, including T cells, B cells, NK cells, CD4+ T cells, and CD8+ T cells;Mean fluorescence intensity of pSTAT proteins and the ratio of phosphorylated to total protein;	—

Secondary

Measure	Time frame
Height (cm);Absolute eosinophil count (×10^9/L);Serum IgE level (IU/mL);Body weight (kg);	—

Countries

China

Contacts

Public ContactJiang Jinqiu

Children's Hospital of Chongqing Medical University

gincho@126.com+86 23 63638830

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Sep 19, 2026