Table 1.

Patient demographic features and pre- and post-HSCT clinical details

Patient no.; sex	Age at HSCT (years)	STAT3 Heterozygous mutation	Skin disease		Lung disease and PFTs		Fractures; other skeletal disease		Infection; other Issues
			Pre-HSCT	Post-HSCT	Pre-HSCT	Post-HSCT	Pre-HSCT	Post-HSCT	Pre-HSCT	Post-HSCT
1 M	7	c.1909 G>A p.V637M	Yes	Normal	Left upper and lower lobectomies with bronchopleural fistula; bilateral bronchiectasis; chronic Aspergillus infection; pulmonary hypertension FEV1 47% FVC 51%	Stable appearance on CT: bronchiectasis persist Nocturnal CPAP for lobar collapse post-scoliosis repair with limited exercise tolerance FEV1 20% FVC 23%	Yes	2 further fractures at 3–4 years post-HSCT Development of scoliosis requiring spinal fusion	Staphylococcus aureus pericarditis	-
2 F	6	c.1771 A>G p.K591E	Yes	Normal	Recurrent Pseudomonas lung infection with cyst formation Not done	Stable; no progression of pulmonary cysts FEV1 95% FVC 88%	No	Development of scoliosis	-	Gonadal failure following myeloablative conditioning Arterial hypertension
3 M	13	c.1144 C>T p.R382W	Yes	Normal	Severe and recurrent pneumonia with bronchiectasis FEV1 63% FVC 70%	Stable appearance on CT No further hemoptysis FEV1 83% FVC 71%	Yes	No	-	ST segment elevation myocardial infarction aged 26 years (13 years post-HSCT)
4 M	14	c.1144 C>T p.R382W	Yes Pustular dermatitis	Dry skin, no infection	Bronchiectasis with multi-cystic lung disease, leading to left lobectomy FEV1 28% FVC 26%	Significant improvement in pulmonary cystic disease and resolution in right lower lobe bronchial thickening on CT FEV1 65% FVC 74%	Yes	No	Staphylococcus aureus liver abscess	Autoimmune neutropenia
5 F	17	c.1144 C>T p.R382W	Yes Persistent infected czema	Normal	Pneumatocoele leading to left lobectomy FEV1 53% FVC 67%	Improvement in lung appearance on CT FEV1 51% FVC 67%	Yes	No	-	Aspergillus perdicarditis at 7 months post-HSCT resolved by 16 months post-HSCT
6 M	18	c.1110 A>G D371_G380del	Yes Eczema, pustular dermatitis	Resolution of previous chronic infection	Lung abscess; pulmonary TB FEV1 89% FVC 90%	Stable CXR changes Not done	No Retained primary dentition	Enterococcal septic arthritis with collapse of femoral head	Recurrent Staphylococcus aureus liver abscess Candida retroperitoneal lymphadenitis and liver abscess	Early gastrointestinal bleed in post-transplant period Medication-related nephrotoxicity
6 2nd HSCT	18
7 M	13	c.1144 C>G p.R382G	Yes Multiple skin abscesses	Dry skin, no infection	Minimal FEV1 89% FVC 90%	Improvement in symptoms and exercise tolerance Not done	No Retained primary dentition	No	Osteomyelitis of mandible	-
8 F	6	c.1144 C>T p.R382W	Yes Eczema, Multiple skin abscesses	Dry skin, no infection	Severe bronchiectasis bilaterally with broncho-pulmonary aspergillosis FEV1 84% FVC 92%	Improvement in symptoms FEV1 82.7%FVC 78.4%	No	No	-	-