Genetic immune defects at the origin of severe infectious diseases?

It seems feasible that infectious diseases have a genetic background. Most propably is a genetic defect in an immune response gene. But they have been obviously overlooked in the last 50 years. A review Severe infectious diseases of childhood as monogenic inborn errors of immunity by Jean-Laurent Casanova in PNAS demonstrates that it has not penetrated the medicinal community that inborn errors leading to infectious disease are more than normal.

Infectious Agent disease protein affected Mutation
Plasmodium vivax   Duffy antigen and receptor for chemokine (DARC) prevented disease
HIV   CCR5 prevented disease
Norovirus   fucosyl transferase 2 (FUT2) prevented disease
Mycobacterium tuberculosis Mycobacterial disease (MSMD) IFN-γ and related proteins or receptors, IL12RB1 caused disease
Neisseria Menigitis Complement C5-C9, factor D, properdin caused disease
Human Papillovirus 5 (HPV-5) Epidermodysplasia verruciformis transmembrane channel-like
6 and 8 (TMC6 and TMC8)
causing disease
Epstein-Barr virus X-linked recessive
lymphoproliferative disease (XLP)
signaling lymphocytic activation molecule-associating protein (SAP) causing disease
Candida albicans chronic mucocutaneous candidiasis (CMC) IL17F, IL-17 receptor A (IL17RA), IL17RC,  actin-related gene 1 (ACT1) causing disease
dermatophytes, Candida, Phialophora,
Exophialia, and others
Dermatophytosis (athlete’s foo) caspase recruitment domain family member
9 (CARD9)
causing disease
invasive pneumococcal disease (IPD) NF-κB essential modulator (NEMO), IL-1R–associated kinase-4 (IRAK-4),myeloid differentiation primary response gene 88 (MyD88)
 Herpex simplex herpes simplex encephalits (HSE)  UNC93B1 and thus TLR-3 causing disease
Trypanosoma evansi apolipoprotein L-I (APOL1) causing disase
Influenza virus influenza IFN regulatory factor 7 (IRF7) causing disease

The review is very suggestive. I would like to point out, that infections where no inborn error has yet been found, should not be considered to have no genomic background. The list is too impressive already to be dismissed.

Since the paper is OPEN ACCESS a must!

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