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Immunodeficiency 18, severe combined immunodeficiency variant

MedGen UID:
816458
Concept ID:
C3810128
Disease or Syndrome
Synonym: Immunodeficiency 18, scid variant
 
OMIM®: 186830; 615615

Professional guidelines

PubMed

Bailey DB Jr, Porter KA, Andrews SM, Raspa M, Gwaltney AY, Peay HL
JAMA Netw Open 2021 Dec 1;4(12):e2140998. doi: 10.1001/jamanetworkopen.2021.40998. PMID: 34964853Free PMC Article
Thorsen J, Kolbert K, Joshi A, Baker M, Seroogy CM
J Clin Immunol 2021 Apr;41(3):595-602. Epub 2021 Jan 7 doi: 10.1007/s10875-020-00956-7. PMID: 33409868

Recent clinical studies

Etiology

Kholoussi S, Ramadan A, Kholoussi N, Ashaat EA, Fayez AG, Raouf HA, Helwa I, Esmaiel NN, Ghorab R, Abo-Shanab AM
Eur Ann Allergy Clin Immunol 2024 Jul;56(4):161-168. Epub 2023 Feb 14 doi: 10.23822/EurAnnACI.1764-1489.286. PMID: 36786340
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):547-555.e5. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.021. PMID: 36456360Free PMC Article
Tengsujaritkul M, Suratannon N, Ittiwut C, Ittiwut R, Chatchatee P, Suphapeetiporn K, Shotelersuk V
Pediatr Allergy Immunol 2022 Jan;33(1):e13701. Epub 2021 Nov 28 doi: 10.1111/pai.13701. PMID: 34796988
Bailey DB Jr, Porter KA, Andrews SM, Raspa M, Gwaltney AY, Peay HL
JAMA Netw Open 2021 Dec 1;4(12):e2140998. doi: 10.1001/jamanetworkopen.2021.40998. PMID: 34964853Free PMC Article
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article

Diagnosis

Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H
Am J Respir Crit Care Med 2024 Jul 1;210(1):63-76. doi: 10.1164/rccm.202308-1370OC. PMID: 38626355Free PMC Article
Kholoussi S, Ramadan A, Kholoussi N, Ashaat EA, Fayez AG, Raouf HA, Helwa I, Esmaiel NN, Ghorab R, Abo-Shanab AM
Eur Ann Allergy Clin Immunol 2024 Jul;56(4):161-168. Epub 2023 Feb 14 doi: 10.23822/EurAnnACI.1764-1489.286. PMID: 36786340
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):547-555.e5. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.021. PMID: 36456360Free PMC Article
Thorsen J, Kolbert K, Joshi A, Baker M, Seroogy CM
J Clin Immunol 2021 Apr;41(3):595-602. Epub 2021 Jan 7 doi: 10.1007/s10875-020-00956-7. PMID: 33409868
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article

Therapy

Guillet S, Gérard L, Meignin V, Agbalika F, Cuccini W, Denis B, Katlama C, Galicier L, Oksenhendler E
Am J Hematol 2016 Feb;91(2):233-7. doi: 10.1002/ajh.24251. PMID: 26799611
Michel G, Yu Y, Chang T, Yee JK
Mol Ther 2010 Oct;18(10):1814-21. Epub 2010 Jul 13 doi: 10.1038/mt.2010.150. PMID: 20628360Free PMC Article
Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, Cavazzana-Calvo M, Porta F, Cant A, Espanol T, Müller S, Veys P, Vossen J, Haddad E, Fischer A
J Pediatr 1999 Jun;134(6):740-8. doi: 10.1016/s0022-3476(99)70291-x. PMID: 10356144
Gottstein C, Schön G, Tawadros S, Kube D, Wargalla-Plate UC, Hansmann ML, Wacker HH, Berthold F, Diehl V, Engert A
Cancer Res 1994 Dec 1;54(23):6186-93. PMID: 7954465

Prognosis

Sharapova SO, Skomska-Pawliszak M, Rodina YA, Wolska-Kuśnierz B, Dabrowska-Leonik N, Mikołuć B, Pashchenko OE, Pasic S, Freiberger T, Milota T, Formánková R, Szaflarska A, Siedlar M, Avčin T, Markelj G, Ciznar P, Kalwak K, Kołtan S, Jackowska T, Drabko K, Gagro A, Pac M, Naumova E, Kandilarova S, Babol-Pokora K, Varabyou DS, Barendregt BH, Raykina EV, Varlamova TV, Pavlova AV, Grombirikova H, Debeljak M, Mersiyanova IV, Bondarenko AV, Chernyshova LI, Kostyuchenko LV, Guseva MN, Rascon J, Muleviciene A, Preiksaitiene E, Geier CB, Leiss-Piller A, Yamazaki Y, Kawai T, Walter JE, Kondratenko IV, Šedivá A, van der Burg M, Kuzmenko NB, Notarangelo LD, Bernatowska E, Aleinikova OV
Front Immunol 2020;11:900. Epub 2020 Jun 10 doi: 10.3389/fimmu.2020.00900. PMID: 32655540Free PMC Article
Firtina S, Yin Ng Y, Hatirnaz Ng O, Kiykim A, Aydiner E, Nepesov S, Camcioglu Y, Sayar EH, Reisli I, Torun SH, Cogurlu T, Uygun D, Simsek IE, Kaya A, Cipe F, Cagdas D, Yucel E, Cekic S, Uygun V, Baris S, Ozen A, Ozbek U, Sayitoglu M
Int J Immunogenet 2020 Dec;47(6):529-538. Epub 2020 May 22 doi: 10.1111/iji.12496. PMID: 32445296
Guillet S, Gérard L, Meignin V, Agbalika F, Cuccini W, Denis B, Katlama C, Galicier L, Oksenhendler E
Am J Hematol 2016 Feb;91(2):233-7. doi: 10.1002/ajh.24251. PMID: 26799611
Frucht DM, Gadina M, Jagadeesh GJ, Aksentijevich I, Takada K, Bleesing JJ, Nelson J, Muul LM, Perham G, Morgan G, Gerritsen EJ, Schumacher RF, Mella P, Veys PA, Fleisher TA, Kaminski ER, Notarangelo LD, O'Shea JJ, Candotti F
Genes Immun 2001 Dec;2(8):422-32. doi: 10.1038/sj.gene.6363802. PMID: 11781709
Bertrand Y, Landais P, Friedrich W, Gerritsen B, Morgan G, Fasth A, Cavazzana-Calvo M, Porta F, Cant A, Espanol T, Müller S, Veys P, Vossen J, Haddad E, Fischer A
J Pediatr 1999 Jun;134(6):740-8. doi: 10.1016/s0022-3476(99)70291-x. PMID: 10356144

Clinical prediction guides

Bailey DB Jr, Porter KA, Andrews SM, Raspa M, Gwaltney AY, Peay HL
JAMA Netw Open 2021 Dec 1;4(12):e2140998. doi: 10.1001/jamanetworkopen.2021.40998. PMID: 34964853Free PMC Article
Coopmans EC, Chunharojrith P, Neggers SJCMM, van der Ent MW, Swagemakers SMA, Hollink IH, Barendregt BH, van der Spek PJ, van der Lely AJ, van Hagen PM, Dalm VASH
Front Immunol 2019;10:2079. Epub 2019 Aug 30 doi: 10.3389/fimmu.2019.02079. PMID: 31543881Free PMC Article
Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, Stoddard JL, Niemela JE, Tamankar V, Mhatre S, Bargir U, Kulkarni M, Shah N, Aggarwal A, Lashkari HP, Krishna V, Govindaraj G, Kalra M, Madkaikar M
Front Immunol 2019;10:23. Epub 2019 Feb 4 doi: 10.3389/fimmu.2019.00023. PMID: 30778343Free PMC Article
Guillet S, Gérard L, Meignin V, Agbalika F, Cuccini W, Denis B, Katlama C, Galicier L, Oksenhendler E
Am J Hematol 2016 Feb;91(2):233-7. doi: 10.1002/ajh.24251. PMID: 26799611
Frucht DM, Gadina M, Jagadeesh GJ, Aksentijevich I, Takada K, Bleesing JJ, Nelson J, Muul LM, Perham G, Morgan G, Gerritsen EJ, Schumacher RF, Mella P, Veys PA, Fleisher TA, Kaminski ER, Notarangelo LD, O'Shea JJ, Candotti F
Genes Immun 2001 Dec;2(8):422-32. doi: 10.1038/sj.gene.6363802. PMID: 11781709

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