A( Bacteial and parasitic infections
- Predisposition to Invasive Bacterial infections
- IRAKS4 deficiency
- MyD88 deficiency
- IRAK1 deficiency
- TIRAP deficiency
- Isolated congenital asplenia
- RPSA (AD)
- HMOX (AR)
- Predisposition to parasitic and fungal infections
- Chronic Mucocutaneous Candidiasis (CMC)
- STAT1 GOF
- IL-17F deficiency
- IL-17RA deficiency
- IL-17 RC deficiency
- ACT1 deficiency
- CARD9 deficiency
- Trypanosomiasis (APOL1)
- Others
- Osteopetrosis
- TNFRSF11A, RLEKHM1
- TCIRG1
- CLCN7, OSTM1
- SNX10
- TNFSF11
- Hydradenitis suppurativa
- PSENEN
- NCSTN
- PSEN
- Acute liver failure due to NBAS deficiency
- NBAS
- Acute necrotizing encephalopathy
- RANBP2
B( MSMD and Viral infection
Mendelian susceptibility to mycobacterial disease (MSMD)
A rare subclass of PID is Mendelian susceptibility to mycobacterial disease (MSMD), triggered by weak pathogenic mycobacterial species such as Salmonella species, nontuberculous environmental Mycobacteria (NTM), and Mycobacterium bovis Bacillus Calmette-Guérin (BCG). The molecular basis of MSMD pathogenesis is on the functional IL-12/23-IFN- γ integrity of macrophage (monocyte/dendritic cell), correlating to T lymphocyte/ NK cells.
References
Guidelines
- Picard C, Al-Herz W, Bousfiha A, Casanova J, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar B. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015; 35(8): 696-726. PubMed
- Picard C, Gaspar B, Al-Herz W, Bousfiha A, Casanova J, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang ML, Tangye SG, Torgerson TR, Sullivan KE. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018; 38(1): 96-128. PubMed
