Table 1 Description of GATA-deficient... | American Society of Hematology

Table 1

Description of GATA-deficient patient mutations and clinical phenotypes

Patient ID and pedigree no.	Mutation	Clinical infectious phenotype	Other clinical phenotype
Patient 1¹⁶	c.1025_1026insGCCG; p.A342GfsX41	Severe varicella zoster virus, cytomegalovirus, herpes simplex virus	Interstitial lung disease
Patient 1¹⁶	c.1025_1026insGCCG; p.A342GfsX41		Aplastic anemia
Patient 2¹^,³ (12.I.1)	c.1083_1094del12; p.R361delRNAN	Disseminated Mycobacterium kansasii
		Severe perineal human papillomavirus
		Hepatitis C virus with cirrhosis
Patient 3¹ (4.II.1)	c.1017+572C>T	Disseminated Mycobacterium avium	Common variable immunodeficiency
		Disseminated histoplasmosis	Miscarriages
			Basal and squamous cell skin carcinomas
			Metastatic breast cancer
			Pulmonary alveolar proteinosis
Patient 4³ (17.I.1)	c.1061C>T; p.T354M	Disseminated Mycobacterium kansasii
		Severe human papillomavirus
		Severe Trychophyton rubrum
Patient 5¹^,^25,²⁷ (6.II.1)	c.1017+512del28	Group C streptococcal osteomyelitis
Patient 5¹^,^25,²⁷ (6.II.1)	c.1017+512del28	Severe perineal human papillomavirus
Patient 6¹^,³ (15.II.1)	c.1186C>T; p.R398W	Disseminated mycobacterium avium complex
Patient 7²⁵ (26.I.1)	c.302delG; p.G101AfsX16	Disseminated cytomegalovirus	Acute myeloid leukemia
		Cytomegalovirus gastroduodenitis	Chronic myelomonocytic leukemia
		Severe perineal herpes simplex virus 2	Myelodysplastic syndrome
Patient 8	c.417dupT; p.V140CfsX44	Severe human papillomavirus	Squamous cell carcinoma of the vulva

Patient ID and pedigree no.	Mutation	Clinical infectious phenotype	Other clinical phenotype
Patient 1¹⁶	c.1025_1026insGCCG; p.A342GfsX41	Severe varicella zoster virus, cytomegalovirus, herpes simplex virus	Interstitial lung disease
Patient 1¹⁶	c.1025_1026insGCCG; p.A342GfsX41		Aplastic anemia
Patient 2¹^,³ (12.I.1)	c.1083_1094del12; p.R361delRNAN	Disseminated Mycobacterium kansasii
		Severe perineal human papillomavirus
		Hepatitis C virus with cirrhosis
Patient 3¹ (4.II.1)	c.1017+572C>T	Disseminated Mycobacterium avium	Common variable immunodeficiency
		Disseminated histoplasmosis	Miscarriages
			Basal and squamous cell skin carcinomas
			Metastatic breast cancer
			Pulmonary alveolar proteinosis
Patient 4³ (17.I.1)	c.1061C>T; p.T354M	Disseminated Mycobacterium kansasii
		Severe human papillomavirus
		Severe Trychophyton rubrum
Patient 5¹^,^25,²⁷ (6.II.1)	c.1017+512del28	Group C streptococcal osteomyelitis
Patient 5¹^,^25,²⁷ (6.II.1)	c.1017+512del28	Severe perineal human papillomavirus
Patient 6¹^,³ (15.II.1)	c.1186C>T; p.R398W	Disseminated mycobacterium avium complex
Patient 7²⁵ (26.I.1)	c.302delG; p.G101AfsX16	Disseminated cytomegalovirus	Acute myeloid leukemia
		Cytomegalovirus gastroduodenitis	Chronic myelomonocytic leukemia
		Severe perineal herpes simplex virus 2	Myelodysplastic syndrome
Patient 8	c.417dupT; p.V140CfsX44	Severe human papillomavirus	Squamous cell carcinoma of the vulva