

Drug discovery
1
drug
With orphan designation
Overview
Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin and lung infections, eczema, and elevated serum IgE levels (>2000 IU/mL). Most cases arise from STAT3 (autosomal dominant) or DOCK8 (autosomal recessive) mutations, impairing Th17 differentiation and immune regulation. Clinical features include cold abscesses, pneumatoceles, skeletal/dental anomalies, and increased malignancy risk. Chronic infections drive morbidity, necessitating lifelong multidisciplinary management [1][6][11][17].
Burden
High morbidity from recurrent infections (20% develop pneumatoceles) and secondary lung damage [1][6][19].
Malignancy risk: 6.5% lifetime prevalence (lymphomas, SCC) [4][11][17].
Reduced quality of life due to chronic symptoms, frequent hospitalizations, and complications like fractures/scoliosis [9][16][17].
Therapies
Prophylaxis: Daily antistaphylococcal antibiotics (e.g., TMP-SMX), antifungals, and antivirals [1][11][16].
Biologics: Omalizumab (anti-IgE) for asthma/allergic components; dupilumab (IL-4/13 inhibitor) for refractory eczema [3][8][11].
Curative: Hematopoietic stem cell transplant for DOCK8 deficiency [1][14].
Categories: rare genetic diseases, rare immunological diseases
Drug Discovery Landscape
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Recombinant humanized immunoglobulin gamma 1 monoclonal antibody (mAb) directed against the CemX segment of human membrane-bound immunoglobulin E (mIgE) | antibodies | FDA | 2017-09-28 | — | Oneness Biotech Co., Ltd. |