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==IRAK4 Deficiency== | ==IRAK4 Deficiency== | ||
* IRAK4 (interleukin 1 receptor associated kinase 4) gene located on [[chromosome 12|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.<ref>{{Cite journal | * [[IRAK4]] (interleukin 1 receptor associated [[kinase]] 4) gene located on [[chromosome 12|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 system|innate immune]] responses.<ref>{{Cite journal | ||
| author = [[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]] | | author = [[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]] | ||
| title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics | | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics | ||
| Line 74: | Line 74: | ||
| 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 | * [[IRAK4]] deficiency presents with recurrent noninvasive and invasive bacterial [[Infection|infections]] especially with [[pseudomonas aeruginosa]], [[staphylococcus aureus]] and [[Streptococcus pneumoniae|pneumococcus]], and poor [[Inflammation|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]] | | 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 | | title = Pyogenic bacterial infections in humans with IRAK-4 deficiency | ||
| Line 86: | Line 86: | ||
| pmid = 12637671 | | 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> | }}</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; management of complications, antibiotic prophylaxis and pneumococcal vaccine.<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; management of complications, [[Antibiotic|antibiotic prophylaxis]] and [[pneumococcal vaccine]].<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> | ||
==IRAK1 Deficiency== | ==IRAK1 Deficiency== | ||
* IRAK1 (interleukin 1 receptor associated kinase 1) gene located on chromosome Xq28 encodes one of two putative serine/threonine kinases that become associated with interleukin 1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL-1 induced upregulation of transcription factor NF-kappaB.<ref>{{Cite journal | * [[IRAK1]] (interleukin 1 receptor associated [[kinase]] 1) [[gene]] located on [[X chromosome|chromosome Xq28]] encodes one of two putative [[serine]]/[[threonine]] [[kinases]] that become associated with [[Interleukin 1 receptor, type I|interleukin 1 receptor]] (IL1R) upon stimulation. This [[gene]] is partially responsible for IL-1 induced upregulation of [[Transcription factor|transcription factor NF-kappaB]].<ref>{{Cite journal | ||
| author = [[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]] | | author = [[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]] | ||
| title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics | | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics | ||
| Line 101: | Line 101: | ||
| pmid = 24309898 | | pmid = 24309898 | ||
}}</ref> | }}</ref> | ||
* IRAK1 deficiency can present with SLE like syndrome, | * [[IRAK1]] deficiency can present with [[SLE|SLE like syndrome]], [[autoimmunity]], [[Immunoglobulin M|IgM]] & [[Immunoglobulin G|IgG]] [[Autoantibody|autoantibodies]], [[Lymphocyte|lymphocytic]] activation and [[Kidney|renal disease]].<ref>{{Cite journal | ||
| author = [[Chaim O. Jacob]], [[Jiankun Zhu]], [[Don L. Armstrong]], [[Mei Yan]], [[Jie Han]], [[Xin J. Zhou]], [[James A. Thomas]], [[Andreas Reiff]], [[Barry L. Myones]], [[Joshua O. Ojwang]], [[Kenneth M. Kaufman]], [[Marisa Klein-Gitelman]], [[Deborah McCurdy]], [[Linda Wagner-Weiner]], [[Earl Silverman]], [[Julie Ziegler]], [[Jennifer A. Kelly]], [[Joan T. Merrill]], [[John B. Harley]], [[Rosalind Ramsey-Goldman]], [[Luis M. Vila]], [[Sang-Cheol Bae]], [[Timothy J. Vyse]], [[Gary S. Gilkeson]], [[Patrick M. Gaffney]], [[Kathy L. Moser]], [[Carl D. Langefeld]], [[Raphael Zidovetzki]] & [[Chandra Mohan]] | | author = [[Chaim O. Jacob]], [[Jiankun Zhu]], [[Don L. Armstrong]], [[Mei Yan]], [[Jie Han]], [[Xin J. Zhou]], [[James A. Thomas]], [[Andreas Reiff]], [[Barry L. Myones]], [[Joshua O. Ojwang]], [[Kenneth M. Kaufman]], [[Marisa Klein-Gitelman]], [[Deborah McCurdy]], [[Linda Wagner-Weiner]], [[Earl Silverman]], [[Julie Ziegler]], [[Jennifer A. Kelly]], [[Joan T. Merrill]], [[John B. Harley]], [[Rosalind Ramsey-Goldman]], [[Luis M. Vila]], [[Sang-Cheol Bae]], [[Timothy J. Vyse]], [[Gary S. Gilkeson]], [[Patrick M. Gaffney]], [[Kathy L. Moser]], [[Carl D. Langefeld]], [[Raphael Zidovetzki]] & [[Chandra Mohan]] | ||
| title = Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus | | title = Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus | ||
| Line 115: | Line 115: | ||
==TIRAP Deficiency== | ==TIRAP Deficiency== | ||
* TIRAP (TIR domain containing adaptor protein) gene located on chromosome 11q24.2 encodes a toll interleukin 1 receptor (TIR) protein involved in TLR4 signalling pathway of immune system. It activates NF-kappaB, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response.<ref>{{Cite journal | * [[TIRAP]] (TIR domain containing adaptor protein) [[gene]] located on [[Chromosome 11 (human)|chromosome 11q24.2]] encodes a toll [[Interleukin 1 receptor, type I|interleukin 1 receptor (TIR) protein]] involved in TLR4 signalling pathway of [[immune system]]. It activates NF-kappaB, [[MAPK1]], [[MAPK3]] and [[C-Jun N-terminal kinases|JNK]], which then results in [[cytokine]] secretion and the [[Inflammation|inflammatory response]].<ref>{{Cite journal | ||
| author = [[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]] | | author = [[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]] | ||
| title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics | | title = Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics | ||
Revision as of 12:35, 31 October 2018
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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; management of complications, antibiotic prophylaxis and pneumococcal vaccine.[3]
IRAK1 Deficiency
- IRAK1 (interleukin 1 receptor associated kinase 1) gene located on chromosome Xq28 encodes one of two putative serine/threonine kinases that become associated with interleukin 1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL-1 induced upregulation of transcription factor NF-kappaB.[4]
- IRAK1 deficiency can present with SLE like syndrome, autoimmunity, IgM & IgG autoantibodies, lymphocytic activation and renal disease.[5]
TIRAP Deficiency
- TIRAP (TIR domain containing adaptor protein) gene located on chromosome 11q24.2 encodes a toll interleukin 1 receptor (TIR) protein involved in TLR4 signalling pathway of immune system. It activates NF-kappaB, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response.[6]
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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) - ↑ 3.0 3.1 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.
- ↑ 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) - ↑ Chaim O. Jacob, Jiankun Zhu, Don L. Armstrong, Mei Yan, Jie Han, Xin J. Zhou, James A. Thomas, Andreas Reiff, Barry L. Myones, Joshua O. Ojwang, Kenneth M. Kaufman, Marisa Klein-Gitelman, Deborah McCurdy, Linda Wagner-Weiner, Earl Silverman, Julie Ziegler, Jennifer A. Kelly, Joan T. Merrill, John B. Harley, Rosalind Ramsey-Goldman, Luis M. Vila, Sang-Cheol Bae, Timothy J. Vyse, Gary S. Gilkeson, Patrick M. Gaffney, Kathy L. Moser, Carl D. Langefeld, Raphael Zidovetzki & Chandra Mohan (2009). "Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus". Proceedings of the National Academy of Sciences of the United States of America. 106 (15): 6256–6261. doi:10.1073/pnas.0901181106. PMID 19329491. Unknown parameter
|month=ignored (help) - ↑ 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)