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Immunodeficiency 57(IMD57)

MedGen UID:
1648306
Concept ID:
C4748212
Disease or Syndrome
Synonym: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
 
Gene (location): RIPK1 (6p25.2)
 
Monarch Initiative: MONDO:0020849
OMIM®: 618108

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Gastritis
MedGen UID:
4843
Concept ID:
C0017152
Disease or Syndrome
The presence of inflammation of the gastric mucous membrane.
Perianal abscess
MedGen UID:
14677
Concept ID:
C0031019
Disease or Syndrome
The presence of an abscess located around the anus.
Inflammation of the large intestine
MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Reduced natural killer cell count
MedGen UID:
383765
Concept ID:
C1855767
Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Decreased circulating antibody concentration
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Partial absence of specific antibody response to tetanus vaccine
MedGen UID:
1699537
Concept ID:
C5139460
Finding
A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.

Professional guidelines

PubMed

Flexner C, Owen A, Siccardi M, Swindells S
Int J Antimicrob Agents 2021 Jan;57(1):106220. Epub 2020 Nov 6 doi: 10.1016/j.ijantimicag.2020.106220. PMID: 33166693Free PMC Article
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
Rajasingham R, Wake RM, Beyene T, Katende A, Letang E, Boulware DR
J Clin Microbiol 2019 Jan;57(1) Epub 2019 Jan 2 doi: 10.1128/JCM.01238-18. PMID: 30257903Free PMC Article

Recent clinical studies

Etiology

Quraishi R, Sarkar S, Parmar A, Jain R, Das BK, Ambekar A
Indian J Public Health 2022 Jul-Sep;66(3):331-333. doi: 10.4103/ijph.ijph_1317_21. PMID: 36149115
Mohammadzadeh I, Moazzami B, Ghaffari J, Aghamohammadi A, Rezaei N
Allergol Immunopathol (Madr) 2017 May-Jun;45(3):244-250. Epub 2017 Feb 22 doi: 10.1016/j.aller.2016.11.001. PMID: 28237128
Poorolajal J, Hooshmand E, Mahjub H, Esmailnasab N, Jenabi E
Public Health 2016 Oct;139:3-12. Epub 2016 Jun 24 doi: 10.1016/j.puhe.2016.05.004. PMID: 27349729
Stiehm ER, Orange JS, Ballow M, Lehman H
Adv Pediatr 2010;57(1):185-218. doi: 10.1016/j.yapd.2010.08.005. PMID: 21056739Free PMC Article
Drug Ther Bull 2010 May;48(5):57-60. doi: 10.1136/dtb.2009.07.0032. PMID: 20447982

Diagnosis

Jiang R, Song Z, Liu L, Mei X, Sun J, Qi T, Wang Z, Song W, Tang Y, Yang J, Xu S, Zhao B, Shen Y, Zhang R, Chen J
Front Cell Infect Microbiol 2023;13:1208155. Epub 2023 Nov 8 doi: 10.3389/fcimb.2023.1208155. PMID: 38029233Free PMC Article
Kelsen JR, Sullivan KE
Curr Allergy Asthma Rep 2017 Aug;17(8):57. doi: 10.1007/s11882-017-0724-z. PMID: 28755025Free PMC Article
Poorolajal J, Hooshmand E, Mahjub H, Esmailnasab N, Jenabi E
Public Health 2016 Oct;139:3-12. Epub 2016 Jun 24 doi: 10.1016/j.puhe.2016.05.004. PMID: 27349729
Allenspach E, Torgerson TR
J Clin Immunol 2016 May;36 Suppl 1:57-67. Epub 2016 May 23 doi: 10.1007/s10875-016-0294-1. PMID: 27210535
Stiehm ER, Orange JS, Ballow M, Lehman H
Adv Pediatr 2010;57(1):185-218. doi: 10.1016/j.yapd.2010.08.005. PMID: 21056739Free PMC Article

Therapy

Vieira ADS, Silveira GRMD
Cien Saude Colet 2017 Aug;22(8):2659-2669. doi: 10.1590/1413-81232017228.21752015. PMID: 28793080
van Leth F, Wit FW, Hermans SM
Expert Rev Anti Infect Ther 2014 Jan;12(1):5-7. doi: 10.1586/14787210.2014.859984. PMID: 24256498
Stiehm ER, Orange JS, Ballow M, Lehman H
Adv Pediatr 2010;57(1):185-218. doi: 10.1016/j.yapd.2010.08.005. PMID: 21056739Free PMC Article
Drug Ther Bull 2010 May;48(5):57-60. doi: 10.1136/dtb.2009.07.0032. PMID: 20447982
McCormack S
Curr Opin Infect Dis 2002 Feb;15(1):57-62. doi: 10.1097/00001432-200202000-00010. PMID: 11964907

Prognosis

Moreno-Torres V, de Mendoza C, Martínez-Urbistondo M, Mills P, Treviño A, de la Fuente S, Díaz de Santiago A, Calderón-Parra J, Pintos-Pascual I, Corpas M, Soriano V
QJM 2023 Feb 14;116(1):57-62. doi: 10.1093/qjmed/hcac215. PMID: 36047831
Chang AY, Doiron P, Maurer T
Curr Opin HIV AIDS 2017 Jan;12(1):57-62. doi: 10.1097/COH.0000000000000338. PMID: 27875372
Poorolajal J, Hooshmand E, Mahjub H, Esmailnasab N, Jenabi E
Public Health 2016 Oct;139:3-12. Epub 2016 Jun 24 doi: 10.1016/j.puhe.2016.05.004. PMID: 27349729
Chow EP, Wilson DP, Zhang L
Int J Infect Dis 2012 May;16(5):e312-20. Epub 2012 Mar 20 doi: 10.1016/j.ijid.2012.01.012. PMID: 22440544
Burks AW Jr, Steele RW
Ann Allergy 1986 Jul;57(1):3-13. PMID: 3487995

Clinical prediction guides

Sammet S, Touzeau-Römer V, Wolf E, Schenk-Westkamp P, Romano B, Gersbacher E, Kastenbauer U, Boesecke C, Rockstroh J, Scholten S, Schneeweiss S, Roider J, Seybold U
Infection 2023 Dec;51(6):1823-1829. Epub 2023 Aug 1 doi: 10.1007/s15010-023-02075-y. PMID: 37526898Free PMC Article
Truong HM, Guzé MA, Ouma D, Bushman D, Mocello AR, Kadede K, Bukusi EA, Odhiambo F, Cohen CR
AIDS Behav 2022 Mar;26(3):814-821. Epub 2021 Sep 14 doi: 10.1007/s10461-021-03441-3. PMID: 34518938Free PMC Article
Herber M, Mertz P, Dieudonné Y, Guffroy B, Jung S, Gies V, Korganow AS, Guffroy A
Leuk Lymphoma 2020 Feb;61(2):274-284. Epub 2019 Oct 3 doi: 10.1080/10428194.2019.1672056. PMID: 31580160
Smoleń-Dzirba J, Rosińska M, Kruszyński P, Janiec J, Cycoń M, Bratosiewicz-Wąsik J, Beniowski M, Bociąga-Jasik M, Jabłonowska E, Szetela B, Wąsik TJ
Sci Rep 2019 Mar 21;9(1):4970. doi: 10.1038/s41598-019-41407-7. PMID: 30899060Free PMC Article
Aleman K, Noordzij JG, de Groot R, van Dongen JJ, Hartwig NG
Eur J Pediatr 2001 Dec;160(12):718-25. doi: 10.1007/s004310100816. PMID: 11795679

Recent systematic reviews

Yang S, Liao G, Tse LA
Eur Respir Rev 2023 Dec 31;32(170) Epub 2023 Nov 1 doi: 10.1183/16000617.0135-2023. PMID: 37914194Free PMC Article
Huang D, Zunong J, Li M, Li D, Gong J, Vermund SH, Hu Y
Curr HIV/AIDS Rep 2022 Jun;19(3):167-176. Epub 2022 Apr 8 doi: 10.1007/s11904-022-00606-0. PMID: 35394249Free PMC Article
Global Burden of Disease 2019 Cancer Collaboration, Kocarnik JM, Compton K, Dean FE, Fu W, Gaw BL, Harvey JD, Henrikson HJ, Lu D, Pennini A, Xu R, Ababneh E, Abbasi-Kangevari M, Abbastabar H, Abd-Elsalam SM, Abdoli A, Abedi A, Abidi H, Abolhassani H, Adedeji IA, Adnani QES, Advani SM, Afzal MS, Aghaali M, Ahinkorah BO, Ahmad S, Ahmad T, Ahmadi A, Ahmadi S, Ahmed Rashid T, Ahmed Salih Y, Akalu GT, Aklilu A, Akram T, Akunna CJ, Al Hamad H, Alahdab F, Al-Aly Z, Ali S, Alimohamadi Y, Alipour V, Aljunid SM, Alkhayyat M, Almasi-Hashiani A, Almasri NA, Al-Maweri SAA, Almustanyir S, Alonso N, Alvis-Guzman N, Amu H, Anbesu EW, Ancuceanu R, Ansari F, Ansari-Moghaddam A, Antwi MH, Anvari D, Anyasodor AE, Aqeel M, Arabloo J, Arab-Zozani M, Aremu O, Ariffin H, Aripov T, Arshad M, Artaman A, Arulappan J, Asemi Z, Asghari Jafarabadi M, Ashraf T, Atorkey P, Aujayeb A, Ausloos M, Awedew AF, Ayala Quintanilla BP, Ayenew T, Azab MA, Azadnajafabad S, Azari Jafari A, Azarian G, Azzam AY, Badiye AD, Bahadory S, Baig AA, Baker JL, Balakrishnan S, Banach M, Bärnighausen TW, Barone-Adesi F, Barra F, Barrow A, Behzadifar M, Belgaumi UI, Bezabhe WMM, Bezabih YM, Bhagat DS, Bhagavathula AS, Bhardwaj N, Bhardwaj P, Bhaskar S, Bhattacharyya K, Bhojaraja VS, Bibi S, Bijani A, Biondi A, Bisignano C, Bjørge T, Bleyer A, Blyuss O, Bolarinwa OA, Bolla SR, Braithwaite D, Brar A, Brenner H, Bustamante-Teixeira MT, Butt NS, Butt ZA, Caetano Dos Santos FL, Cao Y, Carreras G, Catalá-López F, Cembranel F, Cerin E, Cernigliaro A, Chakinala RC, Chattu SK, Chattu VK, Chaturvedi P, Chimed-Ochir O, Cho DY, Christopher DJ, Chu DT, Chung MT, Conde J, Cortés S, Cortesi PA, Costa VM, Cunha AR, Dadras O, Dagnew AB, Dahlawi SMA, Dai X, Dandona L, Dandona R, Darwesh AM, das Neves J, De la Hoz FP, Demis AB, Denova-Gutiérrez E, Dhamnetiya D, Dhimal ML, Dhimal M, Dianatinasab M, Diaz D, Djalalinia S, Do HP, Doaei S, Dorostkar F, Dos Santos Figueiredo FW, Driscoll TR, Ebrahimi H, Eftekharzadeh S, El Tantawi M, El-Abid H, Elbarazi I, Elhabashy HR, Elhadi M, El-Jaafary SI, Eshrati B, Eskandarieh S, Esmaeilzadeh F, Etemadi A, Ezzikouri S, Faisaluddin M, Faraon EJA, Fares J, Farzadfar F, Feroze AH, Ferrero S, Ferro Desideri L, Filip I, Fischer F, Fisher JL, Foroutan M, Fukumoto T, Gaal PA, Gad MM, Gadanya MA, Gallus S, Gaspar Fonseca M, Getachew Obsa A, Ghafourifard M, Ghashghaee A, Ghith N, Gholamalizadeh M, Gilani SA, Ginindza TG, Gizaw ATT, Glasbey JC, Golechha M, Goleij P, Gomez RS, Gopalani SV, Gorini G, Goudarzi H, Grosso G, Gubari MIM, Guerra MR, Guha A, Gunasekera DS, Gupta B, Gupta VB, Gupta VK, Gutiérrez RA, Hafezi-Nejad N, Haider MR, Haj-Mirzaian A, Halwani R, Hamadeh RR, Hameed S, Hamidi S, Hanif A, Haque S, Harlianto NI, Haro JM, Hasaballah AI, Hassanipour S, Hay RJ, Hay SI, Hayat K, Heidari G, Heidari M, Herrera-Serna BY, Herteliu C, Hezam K, Holla R, Hossain MM, Hossain MBH, Hosseini MS, Hosseini M, Hosseinzadeh M, Hostiuc M, Hostiuc S, Househ M, Hsairi M, Huang J, Hugo FN, Hussain R, Hussein NR, Hwang BF, Iavicoli I, Ibitoye SE, Ida F, Ikuta KS, Ilesanmi OS, Ilic IM, Ilic MD, Irham LM, Islam JY, Islam RM, Islam SMS, Ismail NE, Isola G, Iwagami M, Jacob L, Jain V, Jakovljevic MB, Javaheri T, Jayaram S, Jazayeri SB, Jha RP, Jonas JB, Joo T, Joseph N, Joukar F, Jürisson M, Kabir A, Kahrizi D, Kalankesh LR, Kalhor R, Kaliyadan F, Kalkonde Y, Kamath A, Kameran Al-Salihi N, Kandel H, Kapoor N, Karch A, Kasa AS, Katikireddi SV, Kauppila JH, Kavetskyy T, Kebede SA, Keshavarz P, Keykhaei M, Khader YS, Khalilov R, Khan G, Khan M, Khan MN, Khan MAB, Khang YH, Khater AM, Khayamzadeh M, Kim GR, Kim YJ, Kisa A, Kisa S, Kissimova-Skarbek K, Kopec JA, Koteeswaran R, Koul PA, Koulmane Laxminarayana SL, Koyanagi A, Kucuk Bicer B, Kugbey N, Kumar GA, Kumar N, Kumar N, Kurmi OP, Kutluk T, La Vecchia C, Lami FH, Landires I, Lauriola P, Lee SW, Lee SWH, Lee WC, Lee YH, Leigh J, Leong E, Li J, Li MC, Liu X, Loureiro JA, Lunevicius R, Magdy Abd El Razek M, Majeed A, Makki A, Male S, Malik AA, Mansournia MA, Martini S, Masoumi SZ, Mathur P, McKee M, Mehrotra R, Mendoza W, Menezes RG, Mengesha EW, Mesregah MK, Mestrovic T, Miao Jonasson J, Miazgowski B, Miazgowski T, Michalek IM, Miller TR, Mirzaei H, Mirzaei HR, Misra S, Mithra P, Moghadaszadeh M, Mohammad KA, Mohammad Y, Mohammadi M, Mohammadi SM, Mohammadian-Hafshejani A, Mohammed S, Moka N, Mokdad AH, Molokhia M, Monasta L, Moni MA, Moosavi MA, Moradi Y, Moraga P, Morgado-da-Costa J, Morrison SD, Mosapour A, Mubarik S, Mwanri L, Nagarajan AJ, Nagaraju SP, Nagata C, Naimzada MD, Nangia V, Naqvi AA, Narasimha Swamy S, Ndejjo R, Nduaguba SO, Negoi I, Negru SM, Neupane Kandel S, Nguyen CT, Nguyen HLT, Niazi RK, Nnaji CA, Noor NM, Nuñez-Samudio V, Nzoputam CI, Oancea B, Ochir C, Odukoya OO, Ogbo FA, Olagunju AT, Olakunde BO, Omar E, Omar Bali A, Omonisi AEE, Ong S, Onwujekwe OE, Orru H, Ortega-Altamirano DV, Otstavnov N, Otstavnov SS, Owolabi MO, P A M, Padubidri JR, Pakshir K, Pana A, Panagiotakos D, Panda-Jonas S, Pardhan S, Park EC, Park EK, Pashazadeh Kan F, Patel HK, Patel JR, Pati S, Pattanshetty SM, Paudel U, Pereira DM, Pereira RB, Perianayagam A, Pillay JD, Pirouzpanah S, Pishgar F, Podder I, Postma MJ, Pourjafar H, Prashant A, Preotescu L, Rabiee M, Rabiee N, Radfar A, Radhakrishnan RA, Radhakrishnan V, Rafiee A, Rahim F, Rahimzadeh S, Rahman M, Rahman MA, Rahmani AM, Rajai N, Rajesh A, Rakovac I, Ram P, Ramezanzadeh K, Ranabhat K, Ranasinghe P, Rao CR, Rao SJ, Rawassizadeh R, Razeghinia MS, Renzaho AMN, Rezaei N, Rezaei N, Rezapour A, Roberts TJ, Rodriguez JAB, Rohloff P, Romoli M, Ronfani L, Roshandel G, Rwegerera GM, S M, Sabour S, Saddik B, Saeed U, Sahebkar A, Sahoo H, Salehi S, Salem MR, Salimzadeh H, Samaei M, Samy AM, Sanabria J, Sankararaman S, Santric-Milicevic MM, Sardiwalla Y, Sarveazad A, Sathian B, Sawhney M, Saylan M, Schneider IJC, Sekerija M, Seylani A, Shafaat O, Shaghaghi Z, Shaikh MA, Shamsoddin E, Shannawaz M, Sharma R, Sheikh A, Sheikhbahaei S, Shetty A, Shetty JK, Shetty PH, Shibuya K, Shirkoohi R, Shivakumar KM, Shivarov V, Siabani S, Siddappa Malleshappa SK, Silva DAS, Singh JA, Sintayehu Y, Skryabin VY, Skryabina AA, Soeberg MJ, Sofi-Mahmudi A, Sotoudeh H, Steiropoulos P, Straif K, Subedi R, Sufiyan MB, Sultan I, Sultana S, Sur D, Szerencsés V, Szócska M, Tabarés-Seisdedos R, Tabuchi T, Tadbiri H, Taherkhani A, Takahashi K, Talaat IM, Tan KK, Tat VY, Tedla BAA, Tefera YG, Tehrani-Banihashemi A, Temsah MH, Tesfay FH, Tessema GA, Thapar R, Thavamani A, Thoguluva Chandrasekar V, Thomas N, Tohidinik HR, Touvier M, Tovani-Palone MR, Traini E, Tran BX, Tran KB, Tran MTN, Tripathy JP, Tusa BS, Ullah I, Ullah S, Umapathi KK, Unnikrishnan B, Upadhyay E, Vacante M, Vaezi M, Valadan Tahbaz S, Velazquez DZ, Veroux M, Violante FS, Vlassov V, Vo B, Volovici V, Vu GT, Waheed Y, Wamai RG, Ward P, Wen YF, Westerman R, Winkler AS, Yadav L, Yahyazadeh Jabbari SH, Yang L, Yaya S, Yazie TSY, Yeshaw Y, Yonemoto N, Younis MZ, Yousefi Z, Yu C, Yuce D, 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