Patient details, clinical presentation, HSCT details, and complications after HSCT (>2 years)
| Pt. . | Age at HSCT (years) . | Sex . | CGD type . | Clinical presentation . | Donor . | Conditioning . | aGvHD . | cGvHD . | Event . | Long-term complications (Persistent—P/Transient—T/Intermittent—I) . | Long-term complications present at last follow-up/time at last follow-up after HSCT (year) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 12 | M | gp91 | − Liver abscess − CGD colitis − Recurrent mouth ulcers − Anal fissures − Balanitis/phimosis | MMUD | Camp Flu Bu | No | No | | − Mild hypertransaminasemia (T) − Upper limb hypermobility (T) − Recurrent infections (T) − Underweight (P) − Anxiety with PTSD (P) − Depression (P) − OCD tendency (P) | − Underweight − OCD tendency 7.4 years |
| 2 | 10 | M | gp91 | − Lung infections (probably fungus) − CGD colitis | MUD | Camp Flu Bu | Grade I gut | No | | − Overweight (T) − Ophthalmic VZV (T) − Abdominal pain (I) − Dyslipidemia-TG (P) − Chronic neuralgic pain post VZV (P) − Anxiety and panic disorder (P) | − Dyslipidemia-TG − Chronic neuralgic pain after VZV − Anxiety and panic disorder 8 years |
| 3 | 6 | F | p47 | − CGD colitis, − Skin granulomas − Lung granulomas, mouth ulcers | MSD | ATG Bu Flu | Grade I gut | No | | − Abdominal pain (T) − Overweight (T) − Dry skin (T) − Chronic EBV-viremia low levels (P) − Delayed puberty (P) − Anxiety (P) | − Chronic EBV viremia low levels − Delayed puberty − Anxiety 9.7 years |
| 4 | 5 | M | gp91 | − Fungal lung infection − Severe LRTI | MUD | Camp Flu Bu | Grade I skin | No | | − Hypothyroidism (T) − Mild conductive HL (T) − Obesity (P) − Needle phobia (P) − Malocclusion (P) | − Obesity − Needle phobia− Malocclusion 7.7 years |
| 5 | 10 | M | p47 | − CGD colitis − Mouth ulcers | MSD | ATG Bu Flu | No | No | | − Dyslipidemia-TG (P) − Obesity/Overweight (P) − Anxiety-tic disorder (related to ASD pre-BMT) (P) | − Overweight 6.7 years |
| 6 | 2 | M | gp91 | − Recurrent LRTI − Recurrent fever − Lymphadenitis | MFD | Camp Flu Bu | Grade I gut and skin | No | | − Chronic abdominal pain (I) − Mild hypertransaminasemia (P) − Genu valgum (P) − Overweight (P) | − Chronic abdominal pain − Mild hypertransaminasemia − Genu valgum − Overweight 9.8 years |
| 7 | 3 | M | gp91 | − Liver abscess − Skin abscess − CGD colitis − Extrinsic allergic alveolitis | MMUD | Camp Flu Bu | Grade II skin | No | | − Adrenal insufficiency (T) − Premature ventricular tachycardia (T) − Autoimmune hypothyroidism (P) − Overweight (P) − Atopic dermatitis (P) | − Autoimmune hypothyroidism − Overweight − Atopic dermatitis 9.1 years |
| 8 | 1 | M | gp91 | − Invasive aspergillosis with lung involvement − BCG-osis | MUD | Camp Flu Treo | Grade II gut | No | | − Acute viral hepatitis (T) − Dyslipidemia (T) − Tibia fracture (T) − Chronic relapsing AIHA (P) − Residual CT chest changes (P) − Adrenal insufficiency (P) − Short stature (P) − Underweight (P) | − Chronic relapsing AIHA − Residual CT chest changes − Adrenal insufficiency − Short stature − Underweight 9 years |
| 9 | 4 | M | gp91 | − Recurrent fevers | MMUD | Camp Flu Bu | Grade I skin | Extensive gut | Died at 8 years secondary to BK nephropathy | − Chronic EBV viremia (T) − Dyslipidemia (T) − Osteopenia (T) − NEC/Intestinal failure (P) − HTN (P) − Hypertransaminasemia (P) − Chronic kidney disease (P) − Obesity/Overweight (P) − Short stature (P) − Frequent skin lesions (P) | − NEC/Intestinal failure − HTN − Hypertransaminasemia − Chronic kidney disease − Overweight − Short stature − Frequent skin lesions 4.7 years |
| 10 | 11 | M | gp91 | − Aspergillus LRTI − NTM LRTI − CGD colitis − Perianal fistula | MUD | Camp Bu Cy | No | Limited skin after second HSCT | DLI second HSCT | − Recurrent colitis prior to second HSCT (T) | None 7.6 years |
| 11 | 5 | F | p47 | − Fungal CNS infection − Recurrent LRTI with lung nodules − Pericardial effusion | MSD | Bu Flu | No | No | | − Chronic EBV viremia (T) − Adrenal insufficiency (T) − Anxiety with school refusal (T) − Residual CT chest changes (P) − Hyper-transaminitis (P) − Hypothyroidism (P) − Radio ulnar synostosis (P) − Genu valgum (noted at last visit) − Secondary Amenorrhea-ovarian failure (P) − Focal epilepsy (P) − Cataract (P) − Abnormal teeth structure (P) − Atopic dermatitis (P) | − Residual CT chest changes − Hyper-GGT − Hypothyroidism − Radio ulnar synostosis − Genu valgum − Secondary amenorrhea-ovarian failure − Focal epilepsy − Cataract − Abnormal teeth structure − Atopic dermatitis 13.2 years |
| 12 | 3 | M | p67 | − CGD colitis, − Osteomyelitis | MUD | Camp Flu Treo | No | No | DLIsecond HSCT | − GBS-like (T) − Bronchial asthma (P) − Chronic abdominal pain (P) − GH deficiency (P) − Eczema (P) − Alopecia (P) | − Bronchial asthma − Chronic abdominal pain − GH deficiency − Eczema (P) − Alopecia (P) 12.8 years |
| 13 | 11 | M | gp91 | − Liver abscess − Retroperitoneal mass | MUD | Camp Flu Treo | No | No | | − Skin VZV (T) | None 6.5 years |
| 14 | 9 | M | gp91 | − CGD colitis − Rectosigmoiditis − Anal fissure − Multiple retinal lesions | MSD | Bu Cy | Grade III skin, liver and gut | No | | − 2 fractures (T) − HTN (P) − Low bone density (P) − School difficulties (P) | − HTN − Low bone density − School difficulties 9.4 years |
| 15 | 5 | M | gp91 | − CGD colitis − Urethral granuloma | MSD | Bu Cy | No | No | | − Enuresis (T) − Obesity (T) − Testicular disorder (T) − Papillary blepharon-conjunctivitis (T) − Frontal headache (I) − Forgetfulness (P) − White matter changes on CT scan associated with cognitive dysfunction (P) | − Frontal headache − Forgetfulness − White matter changes on CT scan associated with cognitive dysfunction 13.8 years |
| 16 | 10 | M | p22 | − CGD colitis − Severe chest infection − Skin granuloma | MUD | Camp Flu Bu | Grade I skin | Gut | | − Dyslipidemia-TG (T) − Chronic EBV viremia (T) − HSV1 reactivation (T) − New and persistent CT chest changes (P) − School difficulties and bullying (pre- and after HSCT) (P) | − Residual CT chest changes 4.8 years |
| 17 | 6 | M | gp91 | − Recurrent lymphadenitis − Recurrent pancreatitis, − Liver abscess − Pneumonia (Actinomyces) − Sepsis (chelonae) − ITP | MMUD | ATG Bu Flu | Pericardial effusion | No | | − Hyperglycemia (T) − School difficulties and bullying (T) − Glycosuria (at last visit) − Residual CT chest changes (P) − HTN (P) − Dyslipidemia (P) − Immune complex glomerulonephritis with chronic kidney disease stage III (P) − Cataract (P) − SNHL (P) | − Residual CT chest changes − HTN − Dyslipidemia − Glycosuria − Immune complex glomerulonephritis with chronic kidney disease stage III − Cataract − SNHL 12.2 years |
| 18 | 15 | M | gp91 | − CGD colitis, − Eczema − Cerebral aspergillosis | MMUD | Camp Flu Treo | No | No | Deceased following myocardial infarction at 26 years | − Scoliosis (P) − Mild acne and dermatitis (P) | − Scoliosis (P) − Mild acne and dermatitis (P) 10.4 years |
| 19 | 5 | M | gp91 | − Aspergillus LRTI − Buttock abscesses − Viral meningitis − CGD colitis − McLeod syndrome | MUD | Camp Flu Bu | Grade I skin | No | | − Conjunctivitis (T) − Choroidal naevus (at last follow up) − Residual CT chest changes (P) − Overcrowded teeth (P) − Face hyperpigmentation (P) | − Residual CT chest changes − Choroidal naevus − Overcrowded teeth − Face hyperpigmentation 11.3 years |
| 20 | 9 | F | p47 | − Skin abscesses − Perianal abscesses − Recurrent URTI and OMA − Asthma | MUD | Camp Flu Bu | Grade II skin | No | | − Chronic viremia EBV (T) − Chicken pox (T) − Loss of scalp hair (at last visit) − Overweight/Obesity (P) − Ovarian failure (P) − Anxiety and needle phobia (P) − Acne (P) | − Obesity − Ovarian failure − Anxiety and needle phobia − Acne − Loss of scalp hair 10.1 years |
| 21 | 4 | M | gp91 | − Recurrent chest infections | MUD | Camp Flu Melph | Grade II skin and gut | Skin and eyes scleroderma after second HSCT | Gene therapy second HSCT | − Polyarthritis (T) − Residual CT chest changes with new scars (P) − SNHL (P) | − Residual CT chest changes − SNHL 11.8 years |
| 22 | 6 | M | gp91 | − Recurrent lymphadenitis − Prolonged diarrhea − Failure to thrive | MUD | Camp Bu Cy | No | No | | − Eczema (T) | None 13.3 years |
| 23 | 5 | M | gp91 | − Recurrent chest infections − Mouth ulcers − Anal fistula − Pericardial effusion | MSD | Bu Cy | No | No | | − Hyper-transaminitis (T) − Chronic abdominal pain (P) − Pectus excavatum (P) − Gum inflammation (P) − Acne (P) | − Chronic abdominal pain (P) − Pectus excavatum (P) − Gum inflammation (P) − Acne (P) 13.2 years |
| 24 | 2 | M | gp91 | − BCG adenitis − Perianal abscesses | MSD | ATG Bu Flu | No | No | | − Osteochondroma (P) − Advanced bone age for pubertal age (P) | − Osteochondroma − Advanced bone age for pubertal age 10.3 years |
| 25 | 7 | M | gp91 | − PVL S. aureus skin abscesses − Liver abscess − Lymphadenitis − Fungal chest infections − Balanitis | MUD | Camp Flu Bu | No | No | DLI | − Underweight (T) − Conjunctivitis (T) − Recurrent colitis (I) | − Recurrent colitis 11.3 years |
| 26 | 12 | M | gp91 | − Positive family history − Liver abscess − Recurrent URTI | MSD | Bu Cy | No | No | | − Skin VZV (T) − Aspermia (P) | − Aspermia 3.5 years |
| 27 | 6 | F | p67 | − Recurrent LRTI − Failure to thrive | MSD | ATG Bu Flu | No | No | | − Difficulties at school (pre and post) (P) − Recurrent mild ear infections (P) − Conductive hearing loss (pre and post) (P) − Gum pain (P) | − Difficulties at school − Recurrent mild ear infections − Conductive hearing loss − Gum pain 8.6 years |
| 28 | 14 | M | gp91 | − Fungal driven granulomatous mediastinal mass causing SVC obstruction | MUD | Camp Flu Bu | Grade I skin | Joint involvement | | − Delayed puberty (T) − GH deficiency (T) − Anxiety with needle phobia (T) − Bilateral lower lid lash misdirection and severe blepharitis (T) − Voriconazole photosensitivity (T) − Hypothyroidism (P) − SNHL (P) − Bowen’s disease (P) − Squamous cell carcinoma (P) | − Hypothyroidism − SNHL − Bowen’s disease − Squamous cell carcinoma 5 years |
| 29 | 12 | M | gp91 | − CGD colitis − Perianal disease − Lymphadenitis − Lymph nodes granulomatous lesions | MUD | Camp Flu Bu | Grade I skin | No | | − Dyslipidemia (T) − Tremors (T) − Keratosis pilaris (T) − Autoimmune hyperthyroidism (P) − Overweight (P) − Sleep difficulties | − Hay fever and blocked nose − Autoimmune hyperthyroidism Overweight − Sleep difficulties 9.2 years |
| 30 | 11 | M | gp91 | − Perianal abscesses − Recurrent LRTI | MMUD | Camp Flu Bu | No | No | | − Adrenal suppression (T) − Delayed puberty (T) − Short stature (T) − Residual CT chest changes (P) − Axonal neuropathy (P) − Anxiety (P) | − Residual CT chest changes − Axonal neuropathy − Anxiety 8.3 years |
| 31 | 2 | M | gp91 | − Neonatal pustular rash − Recurrent chest infections − Transient diarrhea − Gastric outlet obstruction − Short stature | MMUD | Camp Flu Bu | Grade II skin | No | | − Low body density (T) − Overweight (P) − Osteochondroma (P) − Spindle cell sarcoma of the neck (P) | − Overweight − Osteochondroma − Spindle cell sarcoma of the neck 7.4 years |
| 32 | 9 | M | p47 | − Positive family history | MUD | Camp Flu Treo | Grade II skin | No | | − Recurrent arthralgia (T) − Eczema (T) − Overweight/Obesity (P) − Behavioral difficulties (P) | − Overweight − Behavioral difficulties 6.1 years |
| 33 | 3 | M | gp91 | − Staph aureus and Pseudomonas skin infections − Groin abscess | MSD | ATG Bu Flu | No | No | | − Leg pain (T) − School difficulties (P) − Dry skin (P) | − School difficulties − Dry skin 7 years |
| 34 | 8 | M | p47 | − CGD colitis | MUD | Camp Flu Treo | Grade II skin | No | | − Chicken pox (T) − Joint stiffness (T) − Chronic EBV viremia (P) − Adrenal insufficiency (P) − Delayed puberty (P) − Gynecomastia (P) − Sleep difficulties (P) | − Chronic EBV viremia − Adrenal insufficiency − Delayed puberty − Gynecomastia − Sleep difficulties 6.4 years |
| 35 | 6 | M | p67 | − Crohn’s like IBD orofacial granulomatosis − Lymphadenitis | MSD | ATG Bu Flu | No | No | | − Overweight (T) | None 5.9 years |
| 36 | 12 | M | p47 | − Staph aureus liver abscess − Aspergillus lung infection | MUD | Camp Flu Treo | Grade I skin | No | | − PRES and increased ICP (T) − Adrenal insufficiency (P) − Obesity (P) | − Adrenal insufficiency − Obesity 4.9 years |
| 37 | 1 | M | gp91 | − Fungal chest infection | MMUD | ATG Flu Treo Thio | Grade III gut | No | | − Short stature (T) − Adrenal insufficiency (P) − Obesity/Overweight (P) − Low bone density (P) − Neurodevelopmental delay (pre and post) (P) | − Adrenal insufficiency − Overweight − Low bone density 4.6 years |
| 38 | 5 | F | p47 | − Family history − Skin granulomas − Angular cheilitis, Pseudomonas infection − Rothia bacteremia − Ground glass change | MUD | Camp Flu Treo | No | No | | − ITP (T) − Borderline hearing threshold (T) − Adrenal insufficiency (P) | − Adrenal insufficiency 5.2 years |
| 39 | 5 | M | gp91 | − Family history − Skin granuloma | MUD | Camp Flu Treo | Grade I skin | No | | − Chronic EBV viremia (T) | None 5.2 years |
| 40 | 6 | M | gp91 | − Serratia lymphadenitis − Anal abscesses − Perianal opening fistula | MUD | Camp Flu Treo | Grade I skin | Skin, mouth | DLI | − VZV reactivation (T) − Adrenal insufficiency (P) − Short stature (P) − Anxiety (P) | − Adrenal insufficiency − Short stature − Anxiety 4.9 years |
| 41 | 13 | F | p22 | − β thalassemia trait − Crohn’s colitis − Liver abscess − Intra-abdominal and thoracic lymphadenopathy − Atypical mycobacteria infection | MUD | Camp Flu Treo | No | No | DLI | − Bloody diarrhea (at last visit) − Residual liver hypertrophy (P) − Hyper-transaminitis (P) − Thyroiditis (P) − Underweight (P) − Low bone density (P) − Anxiety (P) − SNHL (P) − Dental malalignment (P) | − Bloody diarrhea − Residual liver hypertrophy − Hyper-transaminitis − Thyroiditis − Underweight − Low bone density − Anxiety − SNHL − Dental malalignment 4.9 years |
| 42 | 11 | M | gp91 | − Recurrent otitis media − Perianal abscess − Colitis − Angular cheilitis − Diffused ground glass lung opacification and fibrosis process | MMUD | ATG Flu Treo Thio Rituximab | Grade I gut | No | | − Residual CT chest changes (P) − Adrenal insufficiency (P) − Delayed puberty (P) | − Residual CT chest changes − Adrenal insufficiency − Delayed puberty 2.4 years |
| Pt. . | Age at HSCT (years) . | Sex . | CGD type . | Clinical presentation . | Donor . | Conditioning . | aGvHD . | cGvHD . | Event . | Long-term complications (Persistent—P/Transient—T/Intermittent—I) . | Long-term complications present at last follow-up/time at last follow-up after HSCT (year) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 12 | M | gp91 | − Liver abscess − CGD colitis − Recurrent mouth ulcers − Anal fissures − Balanitis/phimosis | MMUD | Camp Flu Bu | No | No | | − Mild hypertransaminasemia (T) − Upper limb hypermobility (T) − Recurrent infections (T) − Underweight (P) − Anxiety with PTSD (P) − Depression (P) − OCD tendency (P) | − Underweight − OCD tendency 7.4 years |
| 2 | 10 | M | gp91 | − Lung infections (probably fungus) − CGD colitis | MUD | Camp Flu Bu | Grade I gut | No | | − Overweight (T) − Ophthalmic VZV (T) − Abdominal pain (I) − Dyslipidemia-TG (P) − Chronic neuralgic pain post VZV (P) − Anxiety and panic disorder (P) | − Dyslipidemia-TG − Chronic neuralgic pain after VZV − Anxiety and panic disorder 8 years |
| 3 | 6 | F | p47 | − CGD colitis, − Skin granulomas − Lung granulomas, mouth ulcers | MSD | ATG Bu Flu | Grade I gut | No | | − Abdominal pain (T) − Overweight (T) − Dry skin (T) − Chronic EBV-viremia low levels (P) − Delayed puberty (P) − Anxiety (P) | − Chronic EBV viremia low levels − Delayed puberty − Anxiety 9.7 years |
| 4 | 5 | M | gp91 | − Fungal lung infection − Severe LRTI | MUD | Camp Flu Bu | Grade I skin | No | | − Hypothyroidism (T) − Mild conductive HL (T) − Obesity (P) − Needle phobia (P) − Malocclusion (P) | − Obesity − Needle phobia− Malocclusion 7.7 years |
| 5 | 10 | M | p47 | − CGD colitis − Mouth ulcers | MSD | ATG Bu Flu | No | No | | − Dyslipidemia-TG (P) − Obesity/Overweight (P) − Anxiety-tic disorder (related to ASD pre-BMT) (P) | − Overweight 6.7 years |
| 6 | 2 | M | gp91 | − Recurrent LRTI − Recurrent fever − Lymphadenitis | MFD | Camp Flu Bu | Grade I gut and skin | No | | − Chronic abdominal pain (I) − Mild hypertransaminasemia (P) − Genu valgum (P) − Overweight (P) | − Chronic abdominal pain − Mild hypertransaminasemia − Genu valgum − Overweight 9.8 years |
| 7 | 3 | M | gp91 | − Liver abscess − Skin abscess − CGD colitis − Extrinsic allergic alveolitis | MMUD | Camp Flu Bu | Grade II skin | No | | − Adrenal insufficiency (T) − Premature ventricular tachycardia (T) − Autoimmune hypothyroidism (P) − Overweight (P) − Atopic dermatitis (P) | − Autoimmune hypothyroidism − Overweight − Atopic dermatitis 9.1 years |
| 8 | 1 | M | gp91 | − Invasive aspergillosis with lung involvement − BCG-osis | MUD | Camp Flu Treo | Grade II gut | No | | − Acute viral hepatitis (T) − Dyslipidemia (T) − Tibia fracture (T) − Chronic relapsing AIHA (P) − Residual CT chest changes (P) − Adrenal insufficiency (P) − Short stature (P) − Underweight (P) | − Chronic relapsing AIHA − Residual CT chest changes − Adrenal insufficiency − Short stature − Underweight 9 years |
| 9 | 4 | M | gp91 | − Recurrent fevers | MMUD | Camp Flu Bu | Grade I skin | Extensive gut | Died at 8 years secondary to BK nephropathy | − Chronic EBV viremia (T) − Dyslipidemia (T) − Osteopenia (T) − NEC/Intestinal failure (P) − HTN (P) − Hypertransaminasemia (P) − Chronic kidney disease (P) − Obesity/Overweight (P) − Short stature (P) − Frequent skin lesions (P) | − NEC/Intestinal failure − HTN − Hypertransaminasemia − Chronic kidney disease − Overweight − Short stature − Frequent skin lesions 4.7 years |
| 10 | 11 | M | gp91 | − Aspergillus LRTI − NTM LRTI − CGD colitis − Perianal fistula | MUD | Camp Bu Cy | No | Limited skin after second HSCT | DLI second HSCT | − Recurrent colitis prior to second HSCT (T) | None 7.6 years |
| 11 | 5 | F | p47 | − Fungal CNS infection − Recurrent LRTI with lung nodules − Pericardial effusion | MSD | Bu Flu | No | No | | − Chronic EBV viremia (T) − Adrenal insufficiency (T) − Anxiety with school refusal (T) − Residual CT chest changes (P) − Hyper-transaminitis (P) − Hypothyroidism (P) − Radio ulnar synostosis (P) − Genu valgum (noted at last visit) − Secondary Amenorrhea-ovarian failure (P) − Focal epilepsy (P) − Cataract (P) − Abnormal teeth structure (P) − Atopic dermatitis (P) | − Residual CT chest changes − Hyper-GGT − Hypothyroidism − Radio ulnar synostosis − Genu valgum − Secondary amenorrhea-ovarian failure − Focal epilepsy − Cataract − Abnormal teeth structure − Atopic dermatitis 13.2 years |
| 12 | 3 | M | p67 | − CGD colitis, − Osteomyelitis | MUD | Camp Flu Treo | No | No | DLIsecond HSCT | − GBS-like (T) − Bronchial asthma (P) − Chronic abdominal pain (P) − GH deficiency (P) − Eczema (P) − Alopecia (P) | − Bronchial asthma − Chronic abdominal pain − GH deficiency − Eczema (P) − Alopecia (P) 12.8 years |
| 13 | 11 | M | gp91 | − Liver abscess − Retroperitoneal mass | MUD | Camp Flu Treo | No | No | | − Skin VZV (T) | None 6.5 years |
| 14 | 9 | M | gp91 | − CGD colitis − Rectosigmoiditis − Anal fissure − Multiple retinal lesions | MSD | Bu Cy | Grade III skin, liver and gut | No | | − 2 fractures (T) − HTN (P) − Low bone density (P) − School difficulties (P) | − HTN − Low bone density − School difficulties 9.4 years |
| 15 | 5 | M | gp91 | − CGD colitis − Urethral granuloma | MSD | Bu Cy | No | No | | − Enuresis (T) − Obesity (T) − Testicular disorder (T) − Papillary blepharon-conjunctivitis (T) − Frontal headache (I) − Forgetfulness (P) − White matter changes on CT scan associated with cognitive dysfunction (P) | − Frontal headache − Forgetfulness − White matter changes on CT scan associated with cognitive dysfunction 13.8 years |
| 16 | 10 | M | p22 | − CGD colitis − Severe chest infection − Skin granuloma | MUD | Camp Flu Bu | Grade I skin | Gut | | − Dyslipidemia-TG (T) − Chronic EBV viremia (T) − HSV1 reactivation (T) − New and persistent CT chest changes (P) − School difficulties and bullying (pre- and after HSCT) (P) | − Residual CT chest changes 4.8 years |
| 17 | 6 | M | gp91 | − Recurrent lymphadenitis − Recurrent pancreatitis, − Liver abscess − Pneumonia (Actinomyces) − Sepsis (chelonae) − ITP | MMUD | ATG Bu Flu | Pericardial effusion | No | | − Hyperglycemia (T) − School difficulties and bullying (T) − Glycosuria (at last visit) − Residual CT chest changes (P) − HTN (P) − Dyslipidemia (P) − Immune complex glomerulonephritis with chronic kidney disease stage III (P) − Cataract (P) − SNHL (P) | − Residual CT chest changes − HTN − Dyslipidemia − Glycosuria − Immune complex glomerulonephritis with chronic kidney disease stage III − Cataract − SNHL 12.2 years |
| 18 | 15 | M | gp91 | − CGD colitis, − Eczema − Cerebral aspergillosis | MMUD | Camp Flu Treo | No | No | Deceased following myocardial infarction at 26 years | − Scoliosis (P) − Mild acne and dermatitis (P) | − Scoliosis (P) − Mild acne and dermatitis (P) 10.4 years |
| 19 | 5 | M | gp91 | − Aspergillus LRTI − Buttock abscesses − Viral meningitis − CGD colitis − McLeod syndrome | MUD | Camp Flu Bu | Grade I skin | No | | − Conjunctivitis (T) − Choroidal naevus (at last follow up) − Residual CT chest changes (P) − Overcrowded teeth (P) − Face hyperpigmentation (P) | − Residual CT chest changes − Choroidal naevus − Overcrowded teeth − Face hyperpigmentation 11.3 years |
| 20 | 9 | F | p47 | − Skin abscesses − Perianal abscesses − Recurrent URTI and OMA − Asthma | MUD | Camp Flu Bu | Grade II skin | No | | − Chronic viremia EBV (T) − Chicken pox (T) − Loss of scalp hair (at last visit) − Overweight/Obesity (P) − Ovarian failure (P) − Anxiety and needle phobia (P) − Acne (P) | − Obesity − Ovarian failure − Anxiety and needle phobia − Acne − Loss of scalp hair 10.1 years |
| 21 | 4 | M | gp91 | − Recurrent chest infections | MUD | Camp Flu Melph | Grade II skin and gut | Skin and eyes scleroderma after second HSCT | Gene therapy second HSCT | − Polyarthritis (T) − Residual CT chest changes with new scars (P) − SNHL (P) | − Residual CT chest changes − SNHL 11.8 years |
| 22 | 6 | M | gp91 | − Recurrent lymphadenitis − Prolonged diarrhea − Failure to thrive | MUD | Camp Bu Cy | No | No | | − Eczema (T) | None 13.3 years |
| 23 | 5 | M | gp91 | − Recurrent chest infections − Mouth ulcers − Anal fistula − Pericardial effusion | MSD | Bu Cy | No | No | | − Hyper-transaminitis (T) − Chronic abdominal pain (P) − Pectus excavatum (P) − Gum inflammation (P) − Acne (P) | − Chronic abdominal pain (P) − Pectus excavatum (P) − Gum inflammation (P) − Acne (P) 13.2 years |
| 24 | 2 | M | gp91 | − BCG adenitis − Perianal abscesses | MSD | ATG Bu Flu | No | No | | − Osteochondroma (P) − Advanced bone age for pubertal age (P) | − Osteochondroma − Advanced bone age for pubertal age 10.3 years |
| 25 | 7 | M | gp91 | − PVL S. aureus skin abscesses − Liver abscess − Lymphadenitis − Fungal chest infections − Balanitis | MUD | Camp Flu Bu | No | No | DLI | − Underweight (T) − Conjunctivitis (T) − Recurrent colitis (I) | − Recurrent colitis 11.3 years |
| 26 | 12 | M | gp91 | − Positive family history − Liver abscess − Recurrent URTI | MSD | Bu Cy | No | No | | − Skin VZV (T) − Aspermia (P) | − Aspermia 3.5 years |
| 27 | 6 | F | p67 | − Recurrent LRTI − Failure to thrive | MSD | ATG Bu Flu | No | No | | − Difficulties at school (pre and post) (P) − Recurrent mild ear infections (P) − Conductive hearing loss (pre and post) (P) − Gum pain (P) | − Difficulties at school − Recurrent mild ear infections − Conductive hearing loss − Gum pain 8.6 years |
| 28 | 14 | M | gp91 | − Fungal driven granulomatous mediastinal mass causing SVC obstruction | MUD | Camp Flu Bu | Grade I skin | Joint involvement | | − Delayed puberty (T) − GH deficiency (T) − Anxiety with needle phobia (T) − Bilateral lower lid lash misdirection and severe blepharitis (T) − Voriconazole photosensitivity (T) − Hypothyroidism (P) − SNHL (P) − Bowen’s disease (P) − Squamous cell carcinoma (P) | − Hypothyroidism − SNHL − Bowen’s disease − Squamous cell carcinoma 5 years |
| 29 | 12 | M | gp91 | − CGD colitis − Perianal disease − Lymphadenitis − Lymph nodes granulomatous lesions | MUD | Camp Flu Bu | Grade I skin | No | | − Dyslipidemia (T) − Tremors (T) − Keratosis pilaris (T) − Autoimmune hyperthyroidism (P) − Overweight (P) − Sleep difficulties | − Hay fever and blocked nose − Autoimmune hyperthyroidism Overweight − Sleep difficulties 9.2 years |
| 30 | 11 | M | gp91 | − Perianal abscesses − Recurrent LRTI | MMUD | Camp Flu Bu | No | No | | − Adrenal suppression (T) − Delayed puberty (T) − Short stature (T) − Residual CT chest changes (P) − Axonal neuropathy (P) − Anxiety (P) | − Residual CT chest changes − Axonal neuropathy − Anxiety 8.3 years |
| 31 | 2 | M | gp91 | − Neonatal pustular rash − Recurrent chest infections − Transient diarrhea − Gastric outlet obstruction − Short stature | MMUD | Camp Flu Bu | Grade II skin | No | | − Low body density (T) − Overweight (P) − Osteochondroma (P) − Spindle cell sarcoma of the neck (P) | − Overweight − Osteochondroma − Spindle cell sarcoma of the neck 7.4 years |
| 32 | 9 | M | p47 | − Positive family history | MUD | Camp Flu Treo | Grade II skin | No | | − Recurrent arthralgia (T) − Eczema (T) − Overweight/Obesity (P) − Behavioral difficulties (P) | − Overweight − Behavioral difficulties 6.1 years |
| 33 | 3 | M | gp91 | − Staph aureus and Pseudomonas skin infections − Groin abscess | MSD | ATG Bu Flu | No | No | | − Leg pain (T) − School difficulties (P) − Dry skin (P) | − School difficulties − Dry skin 7 years |
| 34 | 8 | M | p47 | − CGD colitis | MUD | Camp Flu Treo | Grade II skin | No | | − Chicken pox (T) − Joint stiffness (T) − Chronic EBV viremia (P) − Adrenal insufficiency (P) − Delayed puberty (P) − Gynecomastia (P) − Sleep difficulties (P) | − Chronic EBV viremia − Adrenal insufficiency − Delayed puberty − Gynecomastia − Sleep difficulties 6.4 years |
| 35 | 6 | M | p67 | − Crohn’s like IBD orofacial granulomatosis − Lymphadenitis | MSD | ATG Bu Flu | No | No | | − Overweight (T) | None 5.9 years |
| 36 | 12 | M | p47 | − Staph aureus liver abscess − Aspergillus lung infection | MUD | Camp Flu Treo | Grade I skin | No | | − PRES and increased ICP (T) − Adrenal insufficiency (P) − Obesity (P) | − Adrenal insufficiency − Obesity 4.9 years |
| 37 | 1 | M | gp91 | − Fungal chest infection | MMUD | ATG Flu Treo Thio | Grade III gut | No | | − Short stature (T) − Adrenal insufficiency (P) − Obesity/Overweight (P) − Low bone density (P) − Neurodevelopmental delay (pre and post) (P) | − Adrenal insufficiency − Overweight − Low bone density 4.6 years |
| 38 | 5 | F | p47 | − Family history − Skin granulomas − Angular cheilitis, Pseudomonas infection − Rothia bacteremia − Ground glass change | MUD | Camp Flu Treo | No | No | | − ITP (T) − Borderline hearing threshold (T) − Adrenal insufficiency (P) | − Adrenal insufficiency 5.2 years |
| 39 | 5 | M | gp91 | − Family history − Skin granuloma | MUD | Camp Flu Treo | Grade I skin | No | | − Chronic EBV viremia (T) | None 5.2 years |
| 40 | 6 | M | gp91 | − Serratia lymphadenitis − Anal abscesses − Perianal opening fistula | MUD | Camp Flu Treo | Grade I skin | Skin, mouth | DLI | − VZV reactivation (T) − Adrenal insufficiency (P) − Short stature (P) − Anxiety (P) | − Adrenal insufficiency − Short stature − Anxiety 4.9 years |
| 41 | 13 | F | p22 | − β thalassemia trait − Crohn’s colitis − Liver abscess − Intra-abdominal and thoracic lymphadenopathy − Atypical mycobacteria infection | MUD | Camp Flu Treo | No | No | DLI | − Bloody diarrhea (at last visit) − Residual liver hypertrophy (P) − Hyper-transaminitis (P) − Thyroiditis (P) − Underweight (P) − Low bone density (P) − Anxiety (P) − SNHL (P) − Dental malalignment (P) | − Bloody diarrhea − Residual liver hypertrophy − Hyper-transaminitis − Thyroiditis − Underweight − Low bone density − Anxiety − SNHL − Dental malalignment 4.9 years |
| 42 | 11 | M | gp91 | − Recurrent otitis media − Perianal abscess − Colitis − Angular cheilitis − Diffused ground glass lung opacification and fibrosis process | MMUD | ATG Flu Treo Thio Rituximab | Grade I gut | No | | − Residual CT chest changes (P) − Adrenal insufficiency (P) − Delayed puberty (P) | − Residual CT chest changes − Adrenal insufficiency − Delayed puberty 2.4 years |
ATG, anti-thymocyte globulin; BCG, bacillus Calmette-Guerin; Bu, busulfan; Camp, Campath (alemtuzumab); CNS, central nervous system; Cy, cyclophosphamide; EBV, Epstein–Barr virus; Flu, fludarabine; GH, growth hormone; HSV, herpes simplex virus; HTN, hypertension; ICP, intracranial pressure; ITP, immune thrombocytopenia; LRTI, lower respiratory tract infection; Melph, melphalan; NEC, necrotizing enterocolitis; NTM, nontuberculous mycobacteria; OCD, obsessive-compulsive disorder; OMA, acute otitis media; PRES, posterior reversible encephalopathy syndrome; PVL, periventricular leukomalacia; SNHL, sensorineural hearing loss; SVC, superior vena cava; TG, thyroglobulin; Thio, thiotepa; Treo, treosulfan; URTI, upper respiratory tract infection; VZV, varicella zoster virus; MFD, matched family donor.