Table 2.
Typical Infections in PIDs
| Infection/ Infective agent | Associated primary immunodeficiency |
|---|---|
| Recurrent Epstein barr virus (EBV) | XLP1, XIAP, CD27, ITK, MAGT1, Coronin1-A def, PI3K-delta, PRKCD |
| Herpes simplex virus (HSV) encephalitis | TLR3 signaling pathway defects |
| Neisseria Meningitides | Terminal complement defects |
| Serratia marascens, Burkholderia cepacia, Staphylococcus aureus, Listeria monocytogenes, Granulibacter bethesdensis, Chromobacterium violaceum, Francisella philomiragia, Mycobacteria, Nocardia, Aspergillus, Candida albicans, Paecilomyces species | Chronic granulomatous disease |
| Enteroviral encephalitis | X-linked agammaglobulinemia |
| Mycobacteria | CGD, NEMO/ NFKB1 pathway defects, IL12 pathway defects, Tyk2, GATA2, IRF8, Macrophage gp91 phox, ISG15 deficiencies |
| HSV, EBV, cytomegalovirus, Varicella | CNKD, FNKD, DOCK8 deficiency |
| Cryptococcus neoformans | Anti GMCSF Abs, IFN gamma pathway defects |
| Cryptosporidium parvum | HyperIgM syndrome, IL21-R defect |
| Staphylococcus aureus | Anti IL6 Abs, DOCK8 deficiency |
| Chronic mucocutaneous candidiasis | IL17 signaling pathway defects, STAT1, VODI, IRF8, APECED, Act1 deficiency |
| Invasive candidiasis or other fungal ds | CARD9 |
| Salmonella sp | IL12 pathway defects, IFN gamma pathway defects, STAT1, Tyk2, IRF8, ISG15 deficiencies |
| Human papilloma virus | DOCK8, EVER1, EVER2, GATA2, WHIM, RHOH, STK4 deficiencies |
| Trypanosomiasis | APOL1 |
| HSV | STAT1, CNKD, FNKD |
| Pneumocystis jiroveci | SCID, HyperIgM, VODI, CARD11, IL21-R |
| Histoplasma | GATA2 deficiency |
| Molluscum contagiosum | RHOH deficiency |
XLP1, X-linked lymphoproliferative disease 1; XIAP, X-linked inhibitor-of-apoptosis; ITK, Interleukin-2- inducible T cell kinase; MAGT1, magnesium transporter 1; PI3K-delta, phosphoinositide 3-kinase; PRKCD, protein kinase C delta; TLR3, toll like receptor 3; CGD, chronic granulomatous disease; NEMO, NF-kappa B essential modulator; NFKB1, NF-kappa B1; IL, interleukin; Tyk2, tyrosine kinase 2; GATA2, GATA binding protein-2; IRF8, interferon regulatory factor 8; gp91 phox, glycoprotein 91 phagocytic oxidase; ISG15, interferon stimulated gene 15; CNKD, classical NK cell deficiency; FNKD, functional NK cell deficiency; DOCK8, dedicator of cytokinesis; anti GM-CSF Abs, anti granulocyte macrophage colony stimulating factor antibodies; IFN, interferon; IL21-R, interleukin 21-receptor; STAT1, signal transducer and activator of transcription 1; VODI, venoocclusive disease with immunodeficiency; APECED, autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; CARD, caspase recruitment domain-containing protein; SCID, severe combined immunodeficiency; EVER, epidermodysplasia verruciformis gene; WHIM, warts hypogammaglobulinemia, infections, myelokathexis; RHOH, ras homolog gene family member H; STK4, serine/ threonine protein kinase 4.