Table 6. Primary immunodeficiency diseases according to the type of immunity defect and related most typical OIs (Adapted from Picard C. et al., Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018).
| - | Immuno Deficiency | Most Common Pathogens Causing OIs |
|---|---|---|
|
Defects of adaptive immunity [58-62] |
Antibody deficiencies | |
| Agammaglobulinaemia | H. influenzae, S. pneumoniae, M. catarrhalis, Staphylococcus spp.including methicillin resistant, P. aeruginosa, M. pneumonia, rhinovirus, adenovirus (severe sinopulmunar or disseminated infections) Enterovirus (meningoencephalitis) Giardia l. (chronic diarrea) Mycobacterium hominis and avium. | |
| CVID Specific antibody deficiency Transient hypogamma of infancy |
H. influenzae, S. pneumoniae, M. catarrhalis, Staphylococcus spp.including methicillin resistant, P. aeruginosa, M. pneumonia, rhinovirus, adenovirus (recurrent sinopulmunar infections). | |
| Combined T/B cell deficiencies | ||
| T- B+ SCID T- B- SCID Omenn’s Syndrome Hyper IgM-CD40 ligand deficiency |
Pyogenic bacteria, Campylobacter, Listeria, Herpesvirus, RSV, CMV, parainfluenzae virus type 3 (severe respiratory) Rotavirus (severe diarrhea following immunisation with rotavirus vaccine) Candida (persistent/recurrent oral and perineal infection) Giardia l., Cryptosporidium spp. (chronic diarrea) Pneumocystis jirovecii. |
|
|
Defects of innate immunity [63-68] |
Phagocytic disorders | |
| Chronic granulomatous disease | Staphylococcus spp, Burkholderia, Serratia, Nocardia (abscesses, pneumonia, granulomatous enteritis) Aspergillus (pneumonia, invasive) Candida spp. (sepsis, adenitis). | |
| Congenital neutropenia | Staphylococcus spp., E. coli, P. aeruginosa (sepsis, pneumonia, mucocutaneous chornic infections). | |
| Leukocyte adhesion deficiency | S. aureus, Streptococcus spp (skin ulcers, periodontitis) Candida spp. (skin and pulmonary infections) P. carinii. | |
| GATA2 deficiency | NT mycobacteria (disseminated infections), fungi (disseminated infections), HPV (recurrent infections). | |
| Complement deficiencies | ||
| C1 and C2 deficiences | S. pneumoniae, H. influenzae (recurrent sinopulmunar infections) Neisseria spp. (meningococcal and gonococcal infections). | |
| C5-C9 deficiences | Neisseria spp. (disseminated infections). | |
| Defects in intrinsic and innate immunity | ||
| IL12/IFN-γ signaling pathway deficiency | Susceptibility to mycobacteria and Salmonella spp. | |
| CARD9 deficiency | Aspergillus (invasive) Candida (meningo-encephalitis and/or colitis). | |
| TLR signaling pathway deficiency | S. pneumoniae, S. aureus, P. aeruginosa (recurrent/severe infections). | |
| - | Immuno Deficiency | Most Common Pathogens Causing OIs |
|
Diseases of immune dysregulation [69, 70] |
Chediack-Higashi syndrome | Staphylococcus spp., Streptococcus spp (respiratory, muco-cutaneous recurrent infections). |
| Hermansky-Pudlak syndrome | Recurrent bacterial infections due to neutropenia. | |
| Griscelli syndrome | Staphylococcus spp., Streptococcus spp (respiratory, muco-cutaneous recurrent infections). | |
| IPEX | S. aureus (skin) Candida spp. | |
| IL10-IL10R deficiency - XLP syndrome | EBV (fulminant infections), bacteria and virus (recurrent respiratory infections). | |
| APECED | Candida spp (chronic mucocutaneous). | |
| ALPS | Bacterial and viral infections due to immunosuppressive drugs. | |
|
Others syndromes [71-74] |
Ataxia-teleangectasia | H. influenzae, S. pneumoniae, Staphylococcus spp (recurrent sinopulmunar infections) herpesvirus. Candida spp (esophagitis). |
| Wiskott Aldrich syndrome | Encapsulated bacteria (recurrent infections) P. jirovecii (pneumonia), Candida spp. (invasive). | |
| Hyper IgE syndromes | S. aureus, P. aeruginosa (pulmunary abcsesses, pneumatoceles), P. jirovecii (pneumonia), Candida spp (chronic mucocutaneous). | |
| Di George syndrome (Del 22q11.2) | H. influenzae, S. pneumoniae, Staphylococcus spp (recurrent sinopulmunar infections) CMV, EBV (viremia). |
CVID: Common variable immune deficiency; SCID: Severe combined immunodeficiency; NT: non-tuberculosis; IPEX: immunodysregulation polyendocrinopathy enteropathy X-linked; APECED: autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia; ALPS: autoimmune lymphoprolipherative syndrome.