Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review
Abstract
:1. Introduction
2. Spectrum of Infections
2.1. Recurrent Sinopulmonary Infections
2.2. Gastrointestinal Infections
2.3. Infections of the Central Nervous System
2.4. Mucocutaneous Infections
2.5. Opportunistic Infections
2.6. Infections following Immunization
3. Preventive Measures
4. Combined Immunodeficiency (CID), Generally Less Profound than SCID
4.1. CD40L and CD40 Deficiency
4.2. Deficient Expression of MHC I & II
4.2.1. Type 1 BLS
4.2.2. Type 2 BLS
4.2.3. Type 3 BLS
4.3. ICOS Deficiency
4.4. DOCK8 Deficiency
4.5. STK4 (MST1) Deficiency
4.6. ZAP70 Deficiency
4.7. IKAROS Deficiency
5. Combined Immunodeficiencies with Associated or Syndromic Features
5.1. Immunodeficiency with Congenital Thrombocytopenia
5.1.1. Wiskott–Aldrich Syndrome
5.1.2. WIP Deficiency
5.1.3. Arp2/3-Mediated Filament Branching Defect
6. DNA Repair Defects Other than Those Listed in Table 1
6.1. Ataxia Telangiectasia (A–T)
6.2. Nijmegen Breakage Syndrome
6.3. Bloom Syndrome
7. Thymic Defects with Additional Congenital Anomalies
7.1. CHARGE Syndrome
7.2. DiGeorge Syndrome
8. Immuno-Osseous Dysplasias
8.1. Cartilage Hair Hypoplasia
8.2. Schimke Immuno-Osseous Dysplasia
9. Hyper IgE Syndromes
9.1. Job Syndrome (AD Hyper IgE Syndrome)
9.2. Comel–Netherton Syndrome
10. Defects of Vitamin B12 and Folate Metabolism
Methylene-Tetrahydrofolate Dehydrogenase 1 (MTHFD1) Deficiency
11. Anhidrotic Ectodermodysplasia with Immunodeficiency
EDA-ID Due to NEMO/IKBKG Deficiency (Ectodermal Dysplasia, Immune Deficiency)
12. Calcium Channel Defects
12.1. ORAI1 Deficiency
12.2. STIM1 Deficiency
13. Other Defects
13.1. Purine Nucleoside Phosphorylase (PNP Deficiency)
13.2. Immunodeficiency with Multiple Intestinal Atresias
14. Combined Immunodeficiency Due to RAG Deficiency
Author Contributions
Funding
Institutional Review Board Statement
Data Availability Statement
Conflicts of Interest
References
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Disease—Inheritance | Genetic Defect | Bacterial Infections | Viral Infections | Fungal/Protozoal Infections |
---|---|---|---|---|
CD40 ligand Deficiency XL | CD40 ligand | URTI, LRTI—S. pneumoniae, Pseudomonas [7] Otitis, sinusitis. Talaromyces marneffei S. aureus, S. epidermidis, E. faecium, S. pneumoniae, S. maltophilia and P. aeruginosa [8]TB lymphadenitis [8] | CMV, EBV and parainfluenza virus [8] | Pneumocystis jirovecii [7,8,9,10] C. parvum [7,11] Trichosporon cutaneum Toxoplasmosis [8] |
CD40 AR | CD40 | Rec pneumonia Septic arthritis [12] | ||
ICOS AR | ICOS | Enteritis Salmonella, Campylobacter Impetigo S. aureus Bacteremia Helicobacter cinaedi Sepsis E. coli [13] | Recurrent herpes labialis, herpes keratitis H. simplex, Colitis HHV6 Vulvovaginitis, IBD—like symptoms CMV Enteritis Norovirus Adenovirus [13] | Enteritis Cryptosporidium Pneumonia P. jirovecii Acute respiratory failure Candida [13] |
MHC Class I AR | TAP1 TAP2 TAPBP B2M | Recurrent sinobronchial infections H. influenzae, S. pneumoniae Staph. aureus Klebsiella spp. E. coli, P. aeruginosa [14,15,16] | Severe viral infections do not occur in isolated MHC class 1 deficiency [16,17,18] | |
MHC Class II AR | CTIIA RFXANK RFX5 RFXAP | Chronic enterocolitis by Pseudomonas aeruginosa, Escherichia coli Salmonella enteritidis [19,20,21] Klebsiella pneumoniae, Enterobacter cloacae, Campylobacter jejuni, Proteus mirabilis, and P. morgani [22,23,24,25] Burkholderia cepacia [26] Recurrent pneumonia by Streptococcus pneumoniae, Staphylococcus aureus, and Haemophilus influenzae [21,23,27] Adult patient recurrent lung infections Strep. viridans, S.marcensens, E.coli (Candida) & Osteomyelitis by P.mirabilis and S.aureus [28] Bacterial Cholangitis by Pseudomonas, Enterococcus and Streptococcus spp. [21,23] BCGosis [23,29,30] Meningitis E. coli [31] | Meningoencephalitis by Enterovirus, HSV, Adenovirus, live polio virus vaccine [20,21,25,29,31,32] Diffuse interstitial pneumonia by CMV, RSV, enterovirus, adenovirus [20,21,23,32] Hepatitis by CMV [32] Diarrhoea by Rotavirus [22] HPV [33] | Protracted diarrhoea by Candida PCP [22,25,31,32,34,35] G. lamblia C. parvum (sclerosing cholangitis) [20,21,22,23,36] |
ZAP 70 AR | ZAP70 | Severe LRI [37] Recurrent gastroenteritis, recurrent LRI Recurrent pneumonia BCG osis [38] | oral candidiasis [37] Oral thrush [38] | |
IKAROS AD | IKZF1 | Severe bacterial infections [39] Recurrent sinopulmonary infections [40] Recurrent sinopulmonary infections, meningiits S. pneumoniae Chronic/recurrent diarrhea C. difficile, B. hominis | Warts HPV Recurrent herpes labialis HSV Mumps Meningitis [39,40] | PCP Pneumonia [39,40] |
DOCK8 AR | DOCK8 | Recurrent respiratory infections Abscesses [41] Recurrent otitis externa, Otitis media, sinusitis, mastoiditis, Salmonella enteritis Abscesses, osteomyelitis due to S.aureus H.influenzae meningitis [42] Otitis media, mastoiditis, sinusitis, pneumonia, bronchitis. recurrent GI infections Salmonella enteritis and Giardiasis. Sepsis, meningitis [43] | Recurrent herpes zoster, molluscum contagiosum [41] H. simplex—orolabial, anogenital, keratitis [42] Cutaneous viral infections VZV, HSV, MCV, HPV Keratitis, chronic orolabial, anogenital HSV [43] | Mucocutaneous candidiasis [41] Cryptococcal meningitis Nail candidiasis Giardiasis [42] Pneumonia PCP, Histoplasmosis Mucocutaneous candidiasis [43] |
STK4 AR | STK4 | Recurrent upper and lower respiratory infections Recurrent rhinosinusitis Recurrent skin abscesses Staphylococcal pneumonia Septicemia [44] Recurrent skin, lower respiratory infections S. pneumoniae, H. influenzae Recurrent pneumonitis, sinusitis [45] | Disseminated warts [44] Recurrent perioral H. simplex Extensive M. contagiosum Persistent EBV viremia [45] Recurrent Herpes zoster [46] | Mucocutaneous candidiasis [44] |
Wiskott Aldrich Syndrome XL | WAS | otitis media, sinusitis, pneumonia, meningitis, sepsis, and colitis S. pneumoniae, N. meningitidis, H. influenzae [47] | Systemic varicella, CMV infection [48] | P. jirovecii, C. albicans [48] |
WIP Deficiency AR | WIPF1 | S. epidermidis K. pneumoniae Vesicular lesions—skin [49] | CMV pneumonitis Rotavirus enteritis RSV Respiratory distress syndrome [50] Rotavirus Enteritis [49] | |
Arp2/3-mediated filament branching defect AR | ARPC1B | Recurrent pneumonia, recurrent lymphadenitis, skin abscesses [51] Bacterial enterocolitis Erysipelas Skin abscess Recurrent otitis media [52] | Recurrent viral URI Recurrent bronchiolitis[51] Extensive warts M.contagiosum Chronic CMV [52] | |
Ataxia Telangiectasia AR | ATM | Recurrent URI and LRI Sinusitis, otitis bronchitis, pneumonia Sepsis [53] | Warts, herpes simplex, molluscum contagiosum,, herpes zoster, Uncomplicated varicella, recurrent varicella [54] Varicella pneumonia [55] | Candidal esophagitis Invasive Aspergillosis [55] P. jirovecii pneumonia [55] |
Nijmegen Breakage syndrome AR | NBS1 | Pneumonia, bronchitis, otitis media, sinusitis, mastoiditis Urinary tract infections, gastrointestinal infections [56,57,58] | ||
Bloom syndrome AR | BLM | Otitis media Bronchitis Pneumonia [59] | ||
DiGeorge syndrome AD | Large deletion (3Mb) typically in chromosome 22 (TBX1) | Complete DGS Recurrent severe infections, chronic diarrhoea Partial DGS Recurrent sinusitis, otitis, bronchitis, pneumonia [60] Surgical infections Bacterial superinfection after viral infections [61] | Viral infections [61] | |
CHARGE Syndrome AD | CHD7 SEMA3E | Otitis media, sinusitis, Pneumonia, Conjunctivitis, sepsis Pseudomonas aeruginosa, Stenotrophomonas maltophilia, Acinetobacter Septic shock [62] | Recurrent oral candidiasis | |
Cartilage Hair Hypoplasia AR | RMRP | otitis media, sinusitis and pneumonia, H. influenzae, M. catarrhalis S. pneumoniae Sepsis [63] Recurrent lung and GI infections [64] | Severe varicella VZV pneumonia CMV pneumonia Disseminated HSV, EBV, VZV, Parvovirus [63] Refractory warts, recurrent mucocutaneous HSV infections, severe varicella. [65] | Pneumonia PCP, Aspergillus Thrush [63] Candida oesophagitis [65] |
Schimke Immuno-osseous Dysplasia AR | SMARCAL1 | Sepsis Bacterial pneumonia [66] | H. zoster [66] CMV Pneumonia and encephalitis [67] | |
Job syndrome HIES AD | STAT3 | Abscesses, furuncles, cellulitis S.aureus [68] Recurrent skin abscesses, pneumonia Pyopneumothorax, empyema S. aureus M. abscessus complex M. tuberculosis Potts spine, abscess BCG Injection site abscess [69] | Skin infections C. albicans [68] Candidiasis Oral, nails, lungs, skin Mediastinal mass A. niger [69] Aspergillomas, mycotic aneurysms, Colonization of pneumatocoeles Aspergillus sp Meningitis, gastrointestinal disease C. neoformans Endophthalmitis, endocarditis, visceral disease Candida Ileocaecal histoplasmosis H. capsulatum [70] | |
Comel—Netherton Syndrome AR | SPINK5 | Sepsis [71] Bacterial skin infections Conjunctivitis Otitis externa [72] | ||
Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency AR | MTHFD1 | Varicella Influenza [73] | ||
EDA-ID due to NEMO /IKBKG deficiency (ectodermal dysplasia, immune deficiency) XL | IKBG | Skin infections, pneumonia, osteomyelitis, arthritis, meningitis, sepsis, colitis S. aureus, S. pneumonia, P. aeruginosa, Mycobacteria [74] cellulitis, osteomyelitis lymphadenitis, pneumonia, disseminated infections M. avium M. kansasii S. typhimurium Klebsiella S. marcescens | Encephalitis HSV Gastroenteritis Adenovirus CMV | Pneumonia P. carinii Mucocutaneous candidiasis Candida |
ORAI1 AR | ORAI1 | Pneumonia, Enteritis Meningitis Pyelonephritis [75] BCGitis Otitis Pyelonephritis Meningitis Pneumonia Chronic diarrhoea [76] | Rotavirus enteritis CMV infection [75] Interstitial pneumonia CMV infection [76] | Toxoplasma Encephalitis Chlamydia pneumonia [75] Candidiasis [76] |
STIM1 AR | STIM1 | Sepsis S. pneumoniae E. coli Otitis media, Pneumonia [75] | CMV, VZV EBV infection Enteroviral encephalitis [75] | |
Purine nucleoside phosphorylase (PNP) deficiency AR | PNP | Recurrent sinopulmonary infections lymphadenitis Liver abscess Disseminated BCG disease [77] | Progressive multifocal leukoencephalopathy JC virus [78] | Liver abscess A. fumigatus [77] |
Immunodeficiency with multiple intestinal atresias AR | TTC7A | Sepsis by Streptococcus faecalis, Pseudomonas aeruginosa Enterobacter cloacae, Klebsiella oxytoca Methicillin-Resistant Staphylococcus Staphylococcus hemolyticus, Staphylococcus epidermidis, E faecalis [79,80,81,82] | Respiratory infection by Adenovirus [83] | Uncontrolled Candida infection [84] |
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George, K.; Govindaraj, G. Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review. Pathogens 2023, 12, 272. https://doi.org/10.3390/pathogens12020272
George K, Govindaraj G. Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review. Pathogens. 2023; 12(2):272. https://doi.org/10.3390/pathogens12020272
Chicago/Turabian StyleGeorge, Kalpana, and Geeta Govindaraj. 2023. "Infections in Inborn Errors of Immunity with Combined Immune Deficiency: A Review" Pathogens 12, no. 2: 272. https://doi.org/10.3390/pathogens12020272