. 2021 Dec 10;42(2):404–420. doi: 10.1007/s10875-021-01189-y

Table 1.

Clinical characteristics and outcome in patients with GATA2 deficiency

Patient no	Family	Sex	Current age	Age at onset of symptoms/age at genetic diagnosis	Infections		Hearing loss	Hematologic abnormalities	Autoimmunity/immune dysregulation	Miscellaneous	HSCT, age	Outcome
Patient no	Family	Sex	Current age	Age at onset of symptoms/age at genetic diagnosis	*Viral*	*Bacterial*	Hearing loss	Hematologic abnormalities	Autoimmunity/immune dysregulation	Miscellaneous	HSCT, age	Outcome
1	A (father of P2 and P3)	M	44y	5y/41y	HPV: warts HSV: disseminated disease	Ear infections as a child	Yes	Hypoplastic BM: cytopenia, trilinear hypoplasia	No	No	41y	Alive
2	A (son of P1)	M	16y	7y/14y	HPV: warts	No	No	MDS-EB-1	No	No	16y	Alive
3	A (daughter of P1)	F	13y	8y/9y	HPV: warts	No	No	No	No	No	ND	Alive
4^a	B (monozygotic twin to P5)	F	45y	21y/38y	HPV: warts, carcinoma in situ EBV: prolonged viremia	Recurrent respiratory inf Suppurative skin infection after BCG *	Yes	No	Progressive obliterating bronchiolitis, lupus-like syndrome	Miscarriage	39y	Alive
5^a	B (monozygotic twin to P4)	F	† (39y)	24y/38y	HPV: warts, carcinoma VZV and EBV: prolonged viremia	Recurrent respiratory inf Suppurative skin inf. after BCG*	Yes	MDS-MLD (hypoplastic)	Progressive obliterating bronchiolitis, lupus-like syndrome	DVT × 2 Squamous cell carcinoma in the cervix, rectum, and anus	39y	Deceased 8 m post-HSCT^b
6^a	C	M	31y	11y/26y	No	Recurrent respiratory inf	Yes	MDS-MLD (hypoplastic)	-	Fever of unknown origin, recurrent pneumothorax	29y	Alive
7^a	D	F	23y	6y/17y	HPV: warts	Recurrent respiratory inf	No	MDS-MLD (hypoplastic)	Interstitial lung disease	Lymphedema, acne, rosacea, rash, fatigue	22y	Alive
8	E	F	56y	0y/53y	No	No	No	Hypoplastic BM	No	Lymphedema, premature graying	ND	Alive
9	F	F	24y	15y/23y	No	No	No	AML with MDS-related changes	Erythema nodosum	DVT, PE, juvenile myoclonic epilepsy, epicanthic fold	23y	Alive
10	G (sibling to P11)	F	32y	6y/31y	HPV: warts, cervix dysplasia	Recurrent respiratory inf	Yes	MDS-MLD	No	Aneurysm of small vessels, hidradenitis suppurative, liver lesions: focal nodular hyperplasia	32y	Alive
11	G (sibling to P10)	M	† (34y)	22y/PM	No	Recurrent skin and respiratory inf	No	MDS-MLD	No	Acne, rosacea, necrotizing fasciitis, pilonidal cysts, skin infections, ulcerations	27y	Deceased 7y post-HSCT^c
12	H	F	19y	14y/14y	No	No	Yes^d	MDS-RCC (hypoplastic)	BPD/Asthma	Born premature (week 26 + 5), BPD	14y	Alive
13	I	M	13y	9y/11 y	HPV: warts	No	No	MDS-EB1	Asthma	Chronic skin abscesses, congenital ptosis	11y	Alive
14	J	F	31	23y/31y	No	No	Yes	MDS-SLD (hypoplastic)	No	Born prematurely (week 25), cerebral palsy, congenital hip dysplasia	Planned	Alive

Abbreviations: AML, acute myeloid leukemia; BCG, bacille Calmette Geurin; BM, bone marrow; BPD, bronchopulmonary dysplasia, CT, computer tomography, HPV, human papilloma virus; HSCT, hematopoietic stem cell transplantation; Inf., infection; m, months; MDS, myelodysplastic syndrome; MDS-EB1, MDS with excess of blasts type 1; MDS-MLD, MDS with multilineage dysplasia; MDS-SLD, MDS with single lineage dysplasia; MDS-RCC, MDS subtype refractory cytopenia of childhood; ND, not done, PM, post mortem; VTE, venous thromboembolism; y, years, †; deceased

^aThese patients have previously been published in Stray-Pedersen, Sorte et al. 2016 (Patient 4 was 84.1, Patient 5 was 84.4, Patient 6 was 88.1, and Patient 7 was 86.1)[21]

^bThe patient was doing well after HSCT, but died unexpectedly of a cerebral hemorrhage

^cThe patient underwent lung transplantation for chronic lung GVHD 58 months after HSCT, and died of chronic lung rejection 26 months after bilateral lung transplantation

^dThe patient has reduced hearing, but this was confirmed after HSCT. Her hearing loss may be due to the disease-causing GATA2 variant, but may also be secondary to complications of HSCT therapy, e.g., aminoglycosides