Overview of the clinical, genetic, and microbiologic features of Colombian CGD patients
| Kindred | Pt | Sex | Gene | Variant/predicted protein | Age at onset (months) | Age at CGD diagnosis (months) | Site/type of infection | Microorganisms | Noninfectious manifestations | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|
| A | P1 | M | CYBB | c.809 G>A/y (p.W270*/y) | 14 | 24 | Lymphadenitis, pneumonia, bacteremia, abscess, and BCG-itis | S. aureus, Salmonella spp., Klebsiella ozaenae, and M. bovis–BCG | None | Alive after HSCT |
| B | P2 | M | CYBB | c.563T>G/y (p.L188*/y) | 1 | 12 | Pneumonia, bacteremia, and pulmonary nodes | Salmonella spp., E. coli, Pseudomonas spp., and B. cepacia | Inflammatory bowel disease | Alive after HSCT |
| P3 | M | CYBB | c.563T>G/y (p.L188*/y) | 1 | 10 | Lymphadenitis, pneumonia, and bacteremia | S. aureus and Klebsiella spp. | Granulomas and inflammatory bowel disease | Alive after HSCT | |
| C | P4 | M | CYBB | c.919del/y (p.T307Pfs*6/y) | 1 | 27 | Lymphadenitis, pneumonia, bacteremia, osteomyelitis, and abscess | S. aureus, Serratia spp., and Salmonella spp. | None | Died due to Salmonella sepsis |
| P5 | M | CYBB | c.919del/y (p.T307Pfs*6/y) | 1 | 48 | Lymphadenitis, neonatal sepsis, pneumonia, bacteremia, and abscess | S. aureus and Salmonella spp. | None | Died due to Salmonella sepsis | |
| P6 | M | NS | NS | 7 | 84 | Lymphadenitis, pneumonia, and bacteremia | S. aureus, E. coli, Salmonella spp | Autoimmune cytopenia | Died due to Salmonella sepsis | |
| D | P7 | M | CYBB | c.935T>A/y (p.M312K/y) | 1 | 2 | Recurrent pneumonia, urinary tract infections, and gastroenteritis | Klebsiella spp. and respiratory syncytial virus | None | Died after HSCT due to GI infection, graft failure |
| E | P8 | F | NCF1 | c.75_76del/c.75_76del (p.Y26Hfs*26/p.Y26Hfs*26) | 96 | 132 | Recurrent abscesses (liver, lung, and skin), pneumonia, lymphadenitis, and chronic diarrhea | S. aureus and Aspergillus spp. | Eczema | Alive with prophylaxis |
| F | P9 | F | CYBA | c.59-1G>A/c.177del | 1 | 15 | Lymphadenitis, pneumonia, recurrent abscesses (submandibular, skin, legs, arms, and neck), osteomyelitis, chronic diarrhea, and septic arthritis | Non-typhi Salmonella | Granulomas | Alive after HSCT. Thyroid tumor after HSCT |
| G | P10 | M | CYBA | c.177del/c.177del (p.K60Rfs*14/p.K60Rfs*14) | 2 | 4 | Lymphadenitis, pneumonia, bacteremia, sepsis, and BCG-osis | M. bovis–BCG | Granulomas | Died after HSCT due to sepsis and BCG-osis |
| H | P11 | M | CYBB | c.736C>T/y (p.Q246*/y) | 2 | 2 | Pneumonia, urinary tract infections, bronchiolitis, and acute otitis media | C. tropicalis and Enterococcus spp. | None | Alive with prophylaxis |
| I | P12 (Ref 9) | M | NCF4 | c.172C>T/c.172C>T (p.R58C/p.R58C) | 0 | 120 | Asymptomatic | None | None | Alive without prophylaxis |
| P13 (Ref 9) | F | NCF4 | c.172C>T/c.172C>T (p.R58C/p.R58C) | 0 | 96 | Asymptomatic | None | None | Alive without prophylaxis | |
| P14 (Ref 9) | M | NCF4 | c.172C>T/c.172C>T (p.R58C/p.R58C) | 36 | 36 | Disseminated histoplasmosis (lymphadenitis, liver, spleen, serum, urine, and BM), tracheitis, perforated appendicitis, bacteremia, and chronic diarrhea | H. capsulatum, Klebsiella pneumoniae, and parainfluenza virus | None | Alive without prophylaxis | |
| P15 (Ref 9) | M | NCF4 | c.172C>T/c.172C>T (p.R58C/p.R58C) | 0 | 36 | Asymptomatic | None | None | Alive without prophylaxis | |
| J | P16 | M | CYBB | g. (?_30653423)_(38220871_?)/y | 1 | 8 | Multilobar pneumonia, bronchiolitis, cellulitis, BCG-itis, and bacteremia | B. cepacia, Aspergillus spp., and M. bovis–BCG | Granulomas, Duchenne muscular dystrophy | Alive after second HSCT |
| K | P17 | M | CYBB | c.1314 + 1_+5del/y | 1 | 36 | Pneumonia, recurrent gastroenteritis, hepatic, and cutaneous abscesses | S. marcescens | None | Died |
| L | P18 | M | NS | NS | 1 | 1 | Neonatal sepsis, pneumonia, and bacteremia | Aspergillus spp. and Klebsiella spp. | None | Died after HSCT due to multiorgan dysfunction |
| M | P19 | M | NS | NS | 6 | 6 | Pneumonia, bacteremia, and liver abscesses | S. marcescens | None | Died due to S. marcescens sepsis |
| N | P20 | M | CYBB | c.15del/y (p.V6*/y) | 4 | 6 | Lymphadenitis, pneumonia, bacteremia, and abscess | S. aureus, S. marcescens, and Salmonella spp. | None | Died |
| P21 | M | CYBB | c.15del/y (p.V6*/y) | 7 | 24 | Hepatic abscess and osteomyelitis | S. marcescens | None | Alive with prophylaxis | |
| O | P22 | M | CYBA | c.58 + 4_58+7del/c.58 + 4_58+7del | 1 | 7 | Lymphadenitis, pneumonia, bacteremia, and BCG-itis | P. fluorescens, P. putida, B. cepacia, and M. bovis–BCG | Autoimmune cytopenia, granulomas, and cow’s milk allergy | Alive after HSCT |
| P | P23 | M | CYBB | c.805-2A>T/y | 3 | 12 | Lymphadenitis, pneumonia, bacteremia, and BCG-itis | E. cloacae, Salmonella spp., and M. bovis–BCG | Colitis | Died after HSCT due to severe GVHD and infection |
| Q | P24 | M | NS | NS | 5 | 23 | Lymphadenitis, pneumonia, bacteremia, and osteomyelitis | A. baumannii, Pseudomonas spp., and Aspergillus spp. | Infectious secondary hemophagocytic lymphohistiocytosis | Died after HSCT and lymphoproliferative disorder |
| R | P25 | M | CYBB | c.565_568del/y (p.I189Sfs*24/y) | 1 | 8 | Neonatal sepsis, pneumonia, and bacteremia | S. aureus and Aspergillus spp. | Granulomas | Alive after HSCT |
| S | P26 | M | CYBB | c.676C>T/y (p.R226*/y) | 6 | 6 | Pneumonia and bacteremia | S. marcescens and Salmonella spp. | Inflammatory bowel disease | Alive after second HSCT |
| T | P27 | M | NS | NS | 10 | 14 | Lymphadenitis, pneumonia, bacteremia, and abscess, | S. aureus and Salmonella spp. | None | Died due to sepsis |
| U | P28 | M | NCF2 | c.233G>A/c.233G>A (p.G78Q/p.G78Q) | 60 | 180 | Lymphadenitis, pneumonia, bacteremia, and abscess | S. aureus, Salmonella spp., M. pneumoniae, and M. tuberculosis | Granulomas | Alive with prophylaxis |
| V | P29 | M | NS | NS | 7 | 48 | Neonatal sepsis, lymphadenitis, pneumonia, bacteremia, and abscess | S. aureus, S. marcescens, Pseudomonas spp., and L. pseudomesenteroides | Autoimmune cytopenias | Died due to sepsis |
| W | P30 | M | CYBB | c. (?_−54)_(653_?)/y | 3 | 3 | Pneumonia, bacteremia, abscess, BCG-itis, and urinary tract infection | S. aureus, Aspergillus spp., and M. tuberculosis | Inflammatory bowel disease, progressive muscle weakness, and Duchenne muscular dystrophy | Died after HSCT due to severe GVHD |
| P31 | M | CYBB | c. (?_−54)_(653_?)/y | 12 | 42 | Lymphadenitis, pneumonia, osteomyelitis, liver abscess, and BCG-itis | S. aureus, M. bovis–BCG, Salmonella spp., E. coli, and Pseudomonas spp. | Inflammatory bowel disease, progressive muscle weakness, and Duchenne muscular dystrophy | Died due to infectious complications | |
| X | P32 | F | CYBB | c.1226C>T/WT (p.A409V/WT) | 36 | 144 | Lymphadenitis, recurrent pneumonia, bacteremia, and abscess | S. aureus, M. tuberculosis, B. cepacia, and Aspergillus spp. | None | HSCT with graft failure and autologous reconstitution, alive with prophylaxis |
| Y | P33 | M | NS | NS | 48 | 60 | Lymphadenitis, pneumonia, bacteremia, osteomyelitis, and liver abscess | Aspergillus spp., Pseudomonas spp., and M. tuberculosis | Granulomas | Died due to invasive aspergillosis after HSCT |
| Z | P34 (31) | M | CYBB | c.46-14−11delTTCT insGAA/y | 2 | 48 | Recurrent diarrhea, recurrent cutaneous and perianal abscess, and abscess | Salmonella spp. | Inflammatory bowel disease and colitis | Unknown |
| AA | P35 (32) | M | CYBB | g.(? _37780078)_(37810917A_?)/y | 7 | 132 | Lymphadenitis, bacteremia, perianal abscess, meningitis, and BCG-itis | B. cepacia, Salmonella spp., and M. bovis–BCG | None | Alive after HSCT |
| AB | P36 (Ref 33) | M | CYBB | c.1587-2A>G/y | 12 | Unknown | Lymphadenitis, osteomyelitis, bacteremia, and sepsis | Klebsiella spp. and Salmonella spp. | None | Died |
| AC | P37 (Ref 33) | M | CYBB | c.271C>T/y (p.R91*/y) | Unknown | Unknown | Lymphadenitis, osteomyelitis, adenitis, meningitis, bacteremia, and sepsis | Salmonella spp. | None | Died |
| AD | P38 (Ref 33) | M | CYBB | c.674A>T/y (p.E225V/y) | 3 | Unknown | Cervical suppurative lymphadenitis and sepsis | S. aureus | None | Died |
| AE | P39 | M | NS | NS | Unknown | 36 | Mediastinal lymphadenitis, recurrent pneumonia, bacteremia, and thoracic wall abscess | Salmonella spp. and Aspergillus spp. | None | Alive with prophylaxis, awaiting HSCT |
| Kindred | Pt | Sex | Gene | Variant/predicted protein | Age at onset (months) | Age at CGD diagnosis (months) | Site/type of infection | Microorganisms | Noninfectious manifestations | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|
| A | P1 | M | c.809 G>A/y (p.W270*/y) | 14 | 24 | Lymphadenitis, pneumonia, bacteremia, abscess, and BCG-itis | None | Alive after HSCT | ||
| B | P2 | M | c.563T>G/y (p.L188*/y) | 1 | 12 | Pneumonia, bacteremia, and pulmonary nodes | Inflammatory bowel disease | Alive after HSCT | ||
| P3 | M | c.563T>G/y (p.L188*/y) | 1 | 10 | Lymphadenitis, pneumonia, and bacteremia | Granulomas and inflammatory bowel disease | Alive after HSCT | |||
| C | P4 | M | c.919del/y (p.T307Pfs*6/y) | 1 | 27 | Lymphadenitis, pneumonia, bacteremia, osteomyelitis, and abscess | None | Died due to | ||
| P5 | M | c.919del/y (p.T307Pfs*6/y) | 1 | 48 | Lymphadenitis, neonatal sepsis, pneumonia, bacteremia, and abscess | None | Died due to | |||
| P6 | M | NS | NS | 7 | 84 | Lymphadenitis, pneumonia, and bacteremia | Autoimmune cytopenia | Died due to | ||
| D | P7 | M | c.935T>A/y (p.M312K/y) | 1 | 2 | Recurrent pneumonia, urinary tract infections, and gastroenteritis | None | Died after HSCT due to GI infection, graft failure | ||
| E | P8 | F | c.75_76del/c.75_76del (p.Y26Hfs*26/p.Y26Hfs*26) | 96 | 132 | Recurrent abscesses (liver, lung, and skin), pneumonia, lymphadenitis, and chronic diarrhea | Eczema | Alive with prophylaxis | ||
| F | P9 | F | c.59-1G>A/c.177del | 1 | 15 | Lymphadenitis, pneumonia, recurrent abscesses (submandibular, skin, legs, arms, and neck), osteomyelitis, chronic diarrhea, and septic arthritis | Non-typhi | Granulomas | Alive after HSCT. Thyroid tumor after HSCT | |
| G | P10 | M | c.177del/c.177del (p.K60Rfs*14/p.K60Rfs*14) | 2 | 4 | Lymphadenitis, pneumonia, bacteremia, sepsis, and BCG-osis | Granulomas | Died after HSCT due to sepsis and BCG-osis | ||
| H | P11 | M | c.736C>T/y (p.Q246*/y) | 2 | 2 | Pneumonia, urinary tract infections, bronchiolitis, and acute otitis media | None | Alive with prophylaxis | ||
| I | P12 (Ref | M | c.172C>T/c.172C>T (p.R58C/p.R58C) | 0 | 120 | Asymptomatic | None | None | Alive without prophylaxis | |
| P13 (Ref | F | c.172C>T/c.172C>T (p.R58C/p.R58C) | 0 | 96 | Asymptomatic | None | None | Alive without prophylaxis | ||
| P14 (Ref | M | c.172C>T/c.172C>T (p.R58C/p.R58C) | 36 | 36 | Disseminated histoplasmosis (lymphadenitis, liver, spleen, serum, urine, and BM), tracheitis, perforated appendicitis, bacteremia, and chronic diarrhea | None | Alive without prophylaxis | |||
| P15 (Ref | M | c.172C>T/c.172C>T (p.R58C/p.R58C) | 0 | 36 | Asymptomatic | None | None | Alive without prophylaxis | ||
| J | P16 | M | g. (?_30653423)_(38220871_?)/y | 1 | 8 | Multilobar pneumonia, bronchiolitis, cellulitis, BCG-itis, and bacteremia | Granulomas, Duchenne muscular dystrophy | Alive after second HSCT | ||
| K | P17 | M | c.1314 + 1_+5del/y | 1 | 36 | Pneumonia, recurrent gastroenteritis, hepatic, and cutaneous abscesses | None | Died | ||
| L | P18 | M | NS | NS | 1 | 1 | Neonatal sepsis, pneumonia, and bacteremia | None | Died after HSCT due to multiorgan dysfunction | |
| M | P19 | M | NS | NS | 6 | 6 | Pneumonia, bacteremia, and liver abscesses | None | Died due to | |
| N | P20 | M | c.15del/y (p.V6*/y) | 4 | 6 | Lymphadenitis, pneumonia, bacteremia, and abscess | None | Died | ||
| P21 | M | c.15del/y (p.V6*/y) | 7 | 24 | Hepatic abscess and osteomyelitis | None | Alive with prophylaxis | |||
| O | P22 | M | c.58 + 4_58+7del/c.58 + 4_58+7del | 1 | 7 | Lymphadenitis, pneumonia, bacteremia, and BCG-itis | Autoimmune cytopenia, granulomas, and cow’s milk allergy | Alive after HSCT | ||
| P | P23 | M | c.805-2A>T/y | 3 | 12 | Lymphadenitis, pneumonia, bacteremia, and BCG-itis | Colitis | Died after HSCT due to severe GVHD and infection | ||
| Q | P24 | M | NS | NS | 5 | 23 | Lymphadenitis, pneumonia, bacteremia, and osteomyelitis | Infectious secondary hemophagocytic lymphohistiocytosis | Died after HSCT and lymphoproliferative disorder | |
| R | P25 | M | c.565_568del/y (p.I189Sfs*24/y) | 1 | 8 | Neonatal sepsis, pneumonia, and bacteremia | Granulomas | Alive after HSCT | ||
| S | P26 | M | c.676C>T/y (p.R226*/y) | 6 | 6 | Pneumonia and bacteremia | Inflammatory bowel disease | Alive after second HSCT | ||
| T | P27 | M | NS | NS | 10 | 14 | Lymphadenitis, pneumonia, bacteremia, and abscess, | None | Died due to sepsis | |
| U | P28 | M | c.233G>A/c.233G>A (p.G78Q/p.G78Q) | 60 | 180 | Lymphadenitis, pneumonia, bacteremia, and abscess | Granulomas | Alive with prophylaxis | ||
| V | P29 | M | NS | NS | 7 | 48 | Neonatal sepsis, lymphadenitis, pneumonia, bacteremia, and abscess | Autoimmune cytopenias | Died due to sepsis | |
| W | P30 | M | c. (?_−54)_(653_?)/y | 3 | 3 | Pneumonia, bacteremia, abscess, BCG-itis, and urinary tract infection | Inflammatory bowel disease, progressive muscle weakness, and Duchenne muscular dystrophy | Died after HSCT due to severe GVHD | ||
| P31 | M | c. (?_−54)_(653_?)/y | 12 | 42 | Lymphadenitis, pneumonia, osteomyelitis, liver abscess, and BCG-itis | Inflammatory bowel disease, progressive muscle weakness, and Duchenne muscular dystrophy | Died due to infectious complications | |||
| X | P32 | F | c.1226C>T/WT (p.A409V/WT) | 36 | 144 | Lymphadenitis, recurrent pneumonia, bacteremia, and abscess | None | HSCT with graft failure and autologous reconstitution, alive with prophylaxis | ||
| Y | P33 | M | NS | NS | 48 | 60 | Lymphadenitis, pneumonia, bacteremia, osteomyelitis, and liver abscess | Granulomas | Died due to invasive aspergillosis after HSCT | |
| Z | P34 ( | M | c.46-14−11delTTCT insGAA/y | 2 | 48 | Recurrent diarrhea, recurrent cutaneous and perianal abscess, and abscess | Inflammatory bowel disease and colitis | Unknown | ||
| AA | P35 ( | M | g.(? _37780078)_(37810917A_?)/y | 7 | 132 | Lymphadenitis, bacteremia, perianal abscess, meningitis, and BCG-itis | None | Alive after HSCT | ||
| AB | P36 (Ref | M | c.1587-2A>G/y | 12 | Unknown | Lymphadenitis, osteomyelitis, bacteremia, and sepsis | None | Died | ||
| AC | P37 (Ref | M | c.271C>T/y (p.R91*/y) | Unknown | Unknown | Lymphadenitis, osteomyelitis, adenitis, meningitis, bacteremia, and sepsis | None | Died | ||
| AD | P38 (Ref | M | c.674A>T/y (p.E225V/y) | 3 | Unknown | Cervical suppurative lymphadenitis and sepsis | None | Died | ||
| AE | P39 | M | NS | NS | Unknown | 36 | Mediastinal lymphadenitis, recurrent pneumonia, bacteremia, and thoracic wall abscess | None | Alive with prophylaxis, awaiting HSCT |
BCG, Bacillus Calmette–Guérin; BM, bone marrow; F, female; GI, gastrointestinal; M, male; NS, not studied; Pt, patient; Ref, references in which the patients were previously reported.