Table 3.
Previously published dupilumab-treated patients with AD-HIES due to DN-STAT3 variants.
| Number of Reported Patients | Age at dupilumab initiation(years) | Gender | Clinical Manifestations(Baseline SCORAD score) | STAT3 LOF Heterozygous variant | Dupilumab Therapeutic regimen (mg) | Outcome (SCORAD following dupilumab) | Duration of dupilumab treatment (months) | Ref. |
|---|---|---|---|---|---|---|---|---|
| 2 | 29 and 37 | M, F | Recurrent skin and pulmonary infections (NA) | c.1166C>T, p.Thr389Ile | Loading dose 600 mg followed by 200 mg every 2 weeks | Resolution of AD (NA) | 7 and 17 | Current report |
| 1 | 2.5 | F | Recurrent skin and pulmonary infections (NA) | 1144 C>T, p.Arg382Trp | 300 mg every 4 weeks | Resolution of AD (NA) | 6 | (10) |
| 1 | 17 | M | Severe AD, recurrent staph infections, allergy to inhalants (45) | c.1150T>C. p.F384L | 300 mg every 2 weeks | Resolution of AD (28/103) | 12 | (14) |
| 1 | 9 | M | Generalized pruritic erythematous papules and Xerosis; eczema, oral candidiasis, furuncles, pneumatoceles, recurrent pneumonia, abscess in liver and gingiva, knee and finger joint deformities since birth (73) | c.1145G>A, p.R382Q | Loading dose of 200 mg followed by 100 mg every 2 weeks. | Resolution of AD (0) | 10.5 | (12) |
| 3 | 9 | 3-M | PJP, chronic OM(58-78) | c.21323C>G | Loading dose 300 mg every 2 weeks, followed by injections every 28 days | Mild dermatitis in all patients after 4 months (5-15). | 4 | (13) |
| Pneumonia (NA) | p.V343L | |||||||
| Neonatal pneumonia, chronic OM (NA) | p.R32Q | |||||||
| 1 | 21 | M | AD, recurrent skin and respiratory tract infections, refractory diarrhea and recurrent colon perforations (NA) | Int10(-2)A>G | 300 mg every 3 weeks | Resolution of skin and GI manifestations (NA) | 6 | (11) |
| 1 | 33 | F | Pruritic eczema, dermatitis (67.45) | 1907C > T, p.S636F | loading dose of 600 mg followed by 300 mg every 2 weeks |
Resolution of AD (< 10) | 10 | (17) |
| 1 | 14 | M | Severe AD and EoE (NA) | c. 1294 G>A. p.V432S | Loading dose of 600 mg followed by 300 mg every 2 weeks |
Resolution of AD (10) | 2 | (15) |
| 13 | 10-42 | 9-F 4-M |
ABPA, AD, Asthma (53.85, 80.3) |
c.1144 C > T, p. R382W | 200 or 300 mg every two weeks |
Resolution of AD (0) | 15 | (16) |
| c.1003 C > T, p.R335W | ||||||||
| c.2137 G > T, p.V713L | ||||||||
| c.1979 T > C, p.N660T | ||||||||
| c.1110(-2) A-G | ||||||||
| c.1864 A > G, p.T622A | ||||||||
| c.1388 T > A, p.V463E | ||||||||
| c.1962_1964delATC,p.I654del | ||||||||
| c.1144 C > T, p.R382W | ||||||||
| c.1861 T > G, p.F621V | ||||||||
| c.1909 G > A, p.V637M | ||||||||
| c.1003C > T, p.R335W | ||||||||
| c.1110(-3) C > A, p.V637M |
M, Male; F, Female; AD, Atopic dermatitis; Eo, Eosinophilic esophagitis; GI, Gastrointestinal; OM, Otitis media; ABPA, Allergic bronchopulmonary aspergillosis; PJP, Pneumocystis Jirovecii Pneumonia; NA, Data is not available.