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. Author manuscript; available in PMC: 2022 Apr 1.
Published in final edited form as: J Clin Immunol. 2021 Jan 8;41(3):639–657. doi: 10.1007/s10875-020-00930-3

Table 1.

Clinical features of GATA2-deficient patients

Kindred Code No. Mutation Sex Origin Vital status Mycobacterial species Other microorganisms Other clinical features Transplantation
A II. 1 P1 p.M388T/WT Female Brazil Alive M. tuberculosis, M. kansasii S. aureus, HPV Hypothyroidism, basal cell carcinoma, intermittent anemia, chronic sinusitis -
B II. 4 P2A p.R398W/WT Female Brazil Alive M. kansasii K. pneumoniae, HPV Lymphedema -
C II. 1 P3 c.915_916del/WT Male Colombia Dead M. tuberculosis P. aeruginosa, HPV, Candida spp. Deafness, cellulitis, spinocellular carcinoma -
D I.1 P4B p.R398Q/WT Female France Alive Mycobacterium spp. H. influenzae, S. pneumoniae Mouth ulcers, pneumonia, cellulitis, hemophagocytic syndrome HSCT
E II. 2 P5B c.1023del/WT Female France Dead M. avium, M. kansasii HPV, Candida spp., Aspergillus spp. Lymphedema, psoriasis, sinusitis -
E II. 3 P6B c.1023del/WT Female France Alive M. kansasii HPV Lymphedema -
F II. 1 P7 p.R398W/WT Male Germany Dead M. kansasii - - -
G II. 1 P8 p.R396Q/WT Female Mexico Alive M. kansasii C. difficile Obesity, subclavian thrombosis, hepatomegaly -
H II. 1 P9 c.599dup/WT Female Portugal Dead M. avium complex EBV, Candida spp. Granulomatous hepatitis -
H II. 2 P1 0 c.599dup/WT Female Portugal Dead Mycobacterium spp. HPV, HHSV-2 Mouth ulcers, hemochromatosis Liver
I II. 1 P11 p.R330*/WT Mal e Spain Dead Mycobacterium spp. Candida spp. Lymphedema, monoclonal gammapathy, sarcoidosis -
J II. 2 P12 p.M388T/WT Female Spain Alive M. avium intracellulare S. salivarius, A. fumigatus Deafness HSCT
K II. 1 P13 c.1035_1036insTC TGGCC/WT Male Spain Dead M. kansasii C. freundii, Staphylococcus spp., Candida spp. Inferior vena cava thrombosis, deafness -
L I.1 P14 c.599dup/WT Female Tunisia Alive M. tuberculosis HPV Lymphedema, thrombosis -
L II. 1 P15 c.599dup/WT Male Tunisia Dead M. tuberculosis HPV Lymphedema -
M II. 1 P16 p.R396W/WT Male Turkey Alive M. tuberculosis HSV 1, HPV, Molluscum contagiosum Hepatosplenomegaly, psoriasis, sarcoidosis HSCT
N II. 1 P17 c.1099dup/WT Female USA Alive M. avium intracellulare C. difficile, S. pneumoniae, H. capsulatum, Brucella spp. Mouth ulcers -
O II. 1 P18 c.1143+2T>A/WT Female France Alive M. avium Undetermined Erythema nodosum -

HSCT, Hematopoietic stem cell transplantation; HPV, Human papilloma virus; HSV, Herpes simplex virus; EBV, Epstein-Barr virus; -, Not present; patients previously reported by Jobim et al.60 (P2A) or Donadieu et al.36 (P4-P6B).