Defects in intrinsic and innate immunity: Difference between revisions
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| pmid = 24309898 | | pmid = 24309898 | ||
}}</ref> | }}</ref> | ||
* | * IRAK4 deficiency presents with recurrent noninvasive and invasive bacterial infections especially with pseudomonas aeruginosa, staphylococcus aureus and pneumococcus, and poor inflammatory response.<ref>{{Cite journal | ||
| author = [[Capucine Picard]], [[Anne Puel]], [[Marion Bonnet]], [[Cheng-Lung Ku]], [[Jacinta Bustamante]], [[Kun Yang]], [[Claire Soudais]], [[Stephanie Dupuis]], [[Jacqueline Feinberg]], [[Claire Fieschi]], [[Carole Elbim]], [[Remi Hitchcock]], [[David Lammas]], [[Graham Davies]], [[Abdulaziz Al-Ghonaium]], [[Hassan Al-Rayes]], [[Sulaiman Al-Jumaah]], [[Sami Al-Hajjar]], [[Ibrahim Zaid Al-Mohsen]], [[Husn H. Frayha]], [[Rajivi Rucker]], [[Thomas R. Hawn]], [[Alan Aderem]], [[Haysam Tufenkeji]], [[Soichi Haraguchi]], [[Noorbibi K. Day]], [[Robert A. Good]], [[Marie-Anne Gougerot-Pocidalo]], [[Adrian Ozinsky]] & [[Jean-Laurent Casanova]] | |||
| title = Pyogenic bacterial infections in humans with IRAK-4 deficiency | |||
| journal = [[Science (New York, N.Y.)]] | |||
| volume = 299 | |||
| issue = 5615 | |||
| pages = 2076–2079 | |||
| year = 2003 | |||
| month = March | |||
| doi = 10.1126/science.1081902 | |||
| pmid = 12637671 | |||
}}</ref><ref name="TakadaIshimura2016">{{cite journal|last1=Takada|first1=Hidetoshi|last2=Ishimura|first2=Masataka|last3=Takimoto|first3=Tomohito|last4=Kohagura|first4=Toaki|last5=Yoshikawa|first5=Hideto|last6=Imaizumi|first6=Masue|last7=Shichijyou|first7=Koichi|last8=Shimabukuro|first8=Yoko|last9=Kise|first9=Tomoo|last10=Hyakuna|first10=Nobuyuki|last11=Ohara|first11=Osamu|last12=Nonoyama|first12=Shigeaki|last13=Hara|first13=Toshiro|title=Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency|journal=Medicine|volume=95|issue=4|year=2016|pages=e2437|issn=0025-7974|doi=10.1097/MD.0000000000002437}}</ref> | |||
* Treatment includes; | |||
==IRAK1 Deficiency== | ==IRAK1 Deficiency== | ||
Revision as of 13:14, 30 October 2018
|
Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Classification
| Defects in Intrinsic & Innate Immunity | |||||||||||||||
| (A) Bacterial and Parasitic Infections | (B) MSMD & Viral Infections | ||||||||||||||
Bacterial and Parasitic infections
| Defects in Intrinsic & Innate Immunity: (A) Bacterial and Parasitic Infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predisposition to Invasive Bacterial Infections (pyrogens) | Predisposition to Parasitic & Fungal Infections | Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IRAK4 Deficiency, IRAK4, AR, MyD88 Deficiency, MYD88, AR | Osteopetrosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IRAK-1 Deficiency:IRAK1,XL | Predisposition to mucocutaneous candidiasis(CMC) | CARD9 Deficiency, CARD9, AR | Hyderadenitis Suppurativa | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| TIRAP Deficiency, TIRAP, AR | STAT1 GOF, STAT1, AD | Trypanosomiasis APOL1, AD | Acute liver failure due to NBAS deficiency, NBAS, AR | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Isolated Congenital Asplenia, RPSA, AD; HMOX, AR | IL-17F Deficiency, IL-17F, AD | Acute necrotizing encephalopathy, RANBP2, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IL-17RA Deficiency, IL-17RA, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IL-17RC Deficiency, IL-17RC, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ACT1 Deficiency, ACT1, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
MSMD and Viral Infections
| Defects in Intrinsic & Innate Immunity: (B) MSMD & Viral Infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendelian susceptibility to mycobacterial disease(MSMD) | Predominant susceptibility to viral infections | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Phenotypes | Moderate Phenotypes | Epidermodysplasia verruciformis(HPV) | Predisposition to severe viral infections | Herpes simplex encephalitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Complete IFNGR1 def: and IFNGR2 def:, IFNGR1,IFNGR2,AR | IL12 & 23 receptor B1 chain def:, IL12P40 def:, STAT1 LOF, Partial IFNYR1 & 2, AD IFNGR1, TyK2 def: | EVER1 def:, TMC6, AR | STAT1 def: (AR LOF) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ISG15 def:, ISG15,AR; Macrophage Gp91 Phox def:CYBB,XL,IRG8 def:,IRF8,AD; IRF8 def:, IRF8 AR; RORc def:, ROCR,AR; JACK1(LOF),JAK1,AR | EVER2 def:, TMC8,AR | STAT2 def: (STAT2 AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WHIM (Warts, Hypogammaglobulinemia, Infections, Myelokathexis) Syndrome, CXCR4, AD,GOF | IRF7 def: (IRF7,AR) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IFNAR2 def: (IFNAR2,AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CD16 def: (FCGR3A,AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| MDAS def: (LOF), IFIH1,AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
IRAK4 Deficiency
- IRAK4 (interleukin 1 receptor associated kinase 4) gene located on chromosome 12q12 encodes a kinase that activates NF-kappaB in both the toll-like receptor (TLR) and T-cell receptor (TCR) signalling pathways. The protein is essential for most innate immune responses.[1]
- IRAK4 deficiency presents with recurrent noninvasive and invasive bacterial infections especially with pseudomonas aeruginosa, staphylococcus aureus and pneumococcus, and poor inflammatory response.[2][3]
- Treatment includes;
IRAK1 Deficiency
TIRAP Deficiency
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References
- ↑ Linn Fagerberg, Bjorn M. Hallstrom, Per Oksvold, Caroline Kampf, Dijana Djureinovic, Jacob Odeberg, Masato Habuka, Simin Tahmasebpoor, Angelika Danielsson, Karolina Edlund, Anna Asplund, Evelina Sjostedt, Emma Lundberg, Cristina Al-Khalili Szigyarto, Marie Skogs, Jenny Ottosson Takanen, Holger Berling, Hanna Tegel, Jan Mulder, Peter Nilsson, Jochen M. Schwenk, Cecilia Lindskog, Frida Danielsson, Adil Mardinoglu, Asa Sivertsson, Kalle von Feilitzen, Mattias Forsberg, Martin Zwahlen, IngMarie Olsson, Sanjay Navani, Mikael Huss, Jens Nielsen, Fredrik Ponten & Mathias Uhlen (2014). "Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics". Molecular & cellular proteomics : MCP. 13 (2): 397–406. doi:10.1074/mcp.M113.035600. PMID 24309898. Unknown parameter
|month=ignored (help) - ↑ Capucine Picard, Anne Puel, Marion Bonnet, Cheng-Lung Ku, Jacinta Bustamante, Kun Yang, Claire Soudais, Stephanie Dupuis, Jacqueline Feinberg, Claire Fieschi, Carole Elbim, Remi Hitchcock, David Lammas, Graham Davies, Abdulaziz Al-Ghonaium, Hassan Al-Rayes, Sulaiman Al-Jumaah, Sami Al-Hajjar, Ibrahim Zaid Al-Mohsen, Husn H. Frayha, Rajivi Rucker, Thomas R. Hawn, Alan Aderem, Haysam Tufenkeji, Soichi Haraguchi, Noorbibi K. Day, Robert A. Good, Marie-Anne Gougerot-Pocidalo, Adrian Ozinsky & Jean-Laurent Casanova (2003). "Pyogenic bacterial infections in humans with IRAK-4 deficiency". Science (New York, N.Y.). 299 (5615): 2076–2079. doi:10.1126/science.1081902. PMID 12637671. Unknown parameter
|month=ignored (help) - ↑ Takada, Hidetoshi; Ishimura, Masataka; Takimoto, Tomohito; Kohagura, Toaki; Yoshikawa, Hideto; Imaizumi, Masue; Shichijyou, Koichi; Shimabukuro, Yoko; Kise, Tomoo; Hyakuna, Nobuyuki; Ohara, Osamu; Nonoyama, Shigeaki; Hara, Toshiro (2016). "Invasive Bacterial Infection in Patients with Interleukin-1 Receptor-associated Kinase 4 Deficiency". Medicine. 95 (4): e2437. doi:10.1097/MD.0000000000002437. ISSN 0025-7974.