Infections in DNA Repair Defects
Abstract
:1. Introduction
2. Ataxia-Telangiectasia
2.1. Respiratory Tract Infections in AT
2.2. Bacterial Sepsis and Meningitis in AT
2.3. Viral Infections in AT
2.4. Fungal Infections in AT
3. Nijmegen Breakage Syndrome
3.1. Bacterial Infections in NBS
3.2. Viral Infections in NBS
3.3. Fungal Infections in NBS
4. Bloom Syndrome
5. Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) Syndrome
6. POLE1 Deficiency (FILS Syndrome and IMAGe Syndrome)
7. POLA 1 Deficiency (X-linked Reticulate Pigmentary Disorder)
8. MCM4 Deficiency
9. RNF168 Deficiency (Radiosensitivity, Immune Deficiency, Dysmorphic features, Learning Difficulties (RIDDLE) Syndrome)
10. Ligase 1 Deficiency
11. GINS1 Deficiency
12. NSMCE3 Deficiency
13. MCM10 Deficiency
14. POLE2 Deficiency
15. Prevention of Infections
16. Discussion
Disease | Gene | Inheritance | Reported Infections | Other Findings |
---|---|---|---|---|
Ataxia-telangiectasia | ATM | AR | Upper and lower respiratory tract infections P. aeruginosa, H. influenzae, S. aureus, S. pneumoniae, E. coli, S. viridians, C. albicans, RSV, Varicella, EBV Invasive infections with S. pneumoniae, S. aureus, and P. aeruginosa VZV infections, warts Vaccine-associated polio (1 case) Vaccine-strain rubella virus isolated in lesions of granulomatous dermatitis HHV6, H. parainfluenza EBV-associated malignancies | Ataxia, telangiectasia, elevated alpha-feto protein, increased risk of lymphoid and other malignancies, increased radiosensitivity, and chromosomal instability |
Nijmegen breakage syndrome | NBS1 | AR | Bacterial respiratory tract infections Mycobacterial infections (only a few patients) Recurrent HSV Severe or chronic EBV, CMV, HBV, HCV Recurrent VZV Vaccine-strain rubella virus isolated in lesions of granulomatous dermatitis Mucosal candidiasis | Progressive microcephaly, dysmorphic facies with prominent midface; lymphomas and solid tumors; increased radiation sensitivity; chromosomal instability |
Bloom syndrome | BLM | AR | Respiratory and gastrointestinal infections with common microorganisms. No increased susceptibility to opportunistic or severe infections. | Short stature, dysmorphic facies sun-sensitive erythema; marrow failure; leukemia, lymphoma; chromosomal instability. |
Immunodeficiency with centromeric instability and facial anomalies (ICF types 1, 2, 3, 4) | DNMT3B | AR | Recurrent or severe respiratory, gastrointestinal, and skin infections with common organisms Opportunistic infections (C. albicans, P. Jiroveci) rare Rubella pneumonia (1 patient) | Facial dysmorphic features, developmental delay, macroglossia; malabsorption; cytopenias; malignancies |
ZBTB24 | AR | |||
CDCA7 | AR | |||
HELLS | AR | |||
POLE1 (Polymerase ε subunit 1) deficiency (FILS syndrome and IMAGe syndrome) | POLE1 | AR | Recurrent respiratory tract infections Viral infections (CMV, HSV, EBV) Recurrent meningitis caused by S. pneumonia (1 patient) | Facial dysmorphism, livedo, short limbs, dysmorphic features |
X-linked reticulate pigmentary disorder (POLA1 deficiency) | POLA1 | XL | Recurrent bacterial upper and lower respiratory tract infections with S. pneumonia, H. influenza, S. aureus, S. pyogenes, P. aeruginosa, M. avium and Candida spp Renal abscess (1 patient) | Hyperpigmentation, characteristic facies, hypohydrosis, facial telangiectasia |
MCM4 deficiency | MCM4 | AR | Bacterial pneumonia Viral infections (HSV, VZV) | NK cells: low number and function, short stature; B cell lymphoma; adrenal insufficiency |
RNF168 deficiency (Radiosensitivity, Immune Deficiency, Dysmorphic features, Learning difficulties -RIDDLE syndrome) | RNF168 | AR | Chronic and recurrent respiratory tract infections H. pylori infection (1 patient) | Short stature, mild defect of motor control to ataxia; normal intelligence to learning difficulties; mild facial dysmorphism to microcephaly; increased radiosensitivity |
Ligase I deficiency | LIG1 | AR | Recurrent bacterial and viral infections | Failure to thrive, photosensitivity, erythrocyte macrocytosis No increased risk of malignancy |
GINS1 deficiency (5 patients) | GINS1 | AR | Viral infections (VZV, CMV, HSV) All had gastrointestinal infections (E. cloacae, rotavirus, Clostridium spp., E. faecalis, E. coli, C. glabrata, A. lowfii, P. aeruginosa 1 patient with pneumonia caused by A. nidulans, and S. agalactiae | Intra and extra-uterine growth failure, dysmorphic face, dermatitis, autoimmunity, NK cells very low |
NSMCE3 deficiency | NSMCE3 | AR | Pneumonia with common virus and bacteria Osteomyelitis with C. albicans Central line infection with Serratia marcences, E. coli, E. fecalis | Failure to thrive, thymic hypoplasia; chromosomal breakage, axial hypotonia, eczema |
PMS2 Deficiency | PMS2 | AR | Recurrent infections (1 patient), not characterized | Café-au-lait spots; lymphoma, colorectal carcinoma, brain tumors |
MCM10 deficiency (1 patient) | MCM10 | AR | Fatal CMV infection | Very low NK cells, HLH-like presentation |
POLE2 (Polymerase ε subunit 2) deficiency (1 patient) | POLE2 | AR | Respiratory infections, Systemic BCG infection | Autoimmunity (type 1 diabetes), hypothyroidism, facial dysmorphism |
ERCC6L2 (Hebo deficiency) (6 patients) | ERCC6L2 | AR | None reported | Facial dysmorphism, microcephaly; bone marrow failure |
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Yilmaz Demirdag, Y.; Gupta, S. Infections in DNA Repair Defects. Pathogens 2023, 12, 440. https://doi.org/10.3390/pathogens12030440
Yilmaz Demirdag Y, Gupta S. Infections in DNA Repair Defects. Pathogens. 2023; 12(3):440. https://doi.org/10.3390/pathogens12030440
Chicago/Turabian StyleYilmaz Demirdag, Yesim, and Sudhir Gupta. 2023. "Infections in DNA Repair Defects" Pathogens 12, no. 3: 440. https://doi.org/10.3390/pathogens12030440