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CD40 Ligand Deficiency

MedGen UID:
384935
Concept ID:
C2348037
Disease or Syndrome

Definition

Patients with the X-linked hyper IgM syndrome have a deficiency of a protein, CD40 ligand that is found on the surface of T-lymphocytes. As a consequence of the deficiency of this protein, their T-lymphocytes are unable to instruct B-lymphocytes to switch their production of gamma globulins from IgM to IgG and IgA. As a result, patients have decreased levels of IgG and IgA and normal or elevated levels of IgM. In addition, since CD40 ligand is important to other functions of T-lymphocytes, they also have a defect in some of the protective functions of their T-lymphocytes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCD40 Ligand Deficiency

Professional guidelines

PubMed

França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A
Expert Rev Clin Immunol 2019 May;15(5):529-540. Epub 2019 Feb 18 doi: 10.1080/1744666X.2019.1573674. PMID: 30681380
Slatter MA, Cant AJ
Ann N Y Acad Sci 2011 Nov;1238:122-31. doi: 10.1111/j.1749-6632.2011.06243.x. PMID: 22129059
Gennery AR, Khawaja K, Veys P, Bredius RG, Notarangelo LD, Mazzolari E, Fischer A, Landais P, Cavazzana-Calvo M, Friedrich W, Fasth A, Wulffraat NM, Matthes-Martin S, Bensoussan D, Bordigoni P, Lange A, Pagliuca A, Andolina M, Cant AJ, Davies EG
Blood 2004 Feb 1;103(3):1152-7. Epub 2003 Oct 2 doi: 10.1182/blood-2003-06-2014. PMID: 14525761

Recent clinical studies

Etiology

França TT, Barreiros LA, Salgado RC, Napoleão SMDS, Gomes LN, Ferreira JFS, Prando C, Weber CW, Di Gesu RSW, Montenegro C, Aranda CS, Kuntze G, Staines-Boone AT, Venegas-Montoya E, Becerra JCA, Bezrodnik L, Di Giovanni D, Moreira I, Seminario GA, Raccio ACG, Dorna MB, Rosário-Filho NA, Chong-Neto HJ, de Carvalho E, Grotta MB, Orellana JC, Dominguez MG, Porras O, Sasia L, Salvucci K, Garip E, Leite LFB, Forte WCN, Pinto-Mariz F, Goudouris E, Nuñez MEN, Schelotto M, Ruiz LB, Liberatore DI, Ochs HD, Cabral-Marques O, Condino-Neto A
J Clin Immunol 2022 Apr;42(3):514-526. Epub 2022 Jan 4 doi: 10.1007/s10875-021-01182-5. PMID: 34982304
Narayanasamy S, Dougherty J, van Doorn HR, Le T
Mycopathologia 2021 Oct;186(5):707-715. Epub 2021 Jul 6 doi: 10.1007/s11046-021-00570-0. PMID: 34228343Free PMC Article
Uygun DFK, Uygun V, Karasu GT, Daloğlu H, Öztürkmen SI, Çelmeli F, Törün SH, Özen A, Barış S, Aydıner EK, Yalçın K, Kılıç SÇ, Hazar V, Bingöl A, Yeşilipek A
Pediatr Transplant 2020 Sep;24(6):e13768. Epub 2020 Jun 23 doi: 10.1111/petr.13768. PMID: 32573870
Du X, Tang W, Chen X, Zeng T, Wang Y, Chen Z, Xu T, Zhou L, Tang X, An Y, Zhao X
Scand J Immunol 2019 Oct;90(4):e12798. Epub 2019 Jul 21 doi: 10.1111/sji.12798. PMID: 31179555
Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP
J Allergy Clin Immunol 2019 Jun;143(6):2238-2253. Epub 2019 Jan 17 doi: 10.1016/j.jaci.2018.12.1010. PMID: 30660643

Diagnosis

França TT, Barreiros LA, Salgado RC, Napoleão SMDS, Gomes LN, Ferreira JFS, Prando C, Weber CW, Di Gesu RSW, Montenegro C, Aranda CS, Kuntze G, Staines-Boone AT, Venegas-Montoya E, Becerra JCA, Bezrodnik L, Di Giovanni D, Moreira I, Seminario GA, Raccio ACG, Dorna MB, Rosário-Filho NA, Chong-Neto HJ, de Carvalho E, Grotta MB, Orellana JC, Dominguez MG, Porras O, Sasia L, Salvucci K, Garip E, Leite LFB, Forte WCN, Pinto-Mariz F, Goudouris E, Nuñez MEN, Schelotto M, Ruiz LB, Liberatore DI, Ochs HD, Cabral-Marques O, Condino-Neto A
J Clin Immunol 2022 Apr;42(3):514-526. Epub 2022 Jan 4 doi: 10.1007/s10875-021-01182-5. PMID: 34982304
Narayanasamy S, Dougherty J, van Doorn HR, Le T
Mycopathologia 2021 Oct;186(5):707-715. Epub 2021 Jul 6 doi: 10.1007/s11046-021-00570-0. PMID: 34228343Free PMC Article
Leite LFB, Máximo TA, Mosca T, Forte WCN
Allergol Immunopathol (Madr) 2020 Jul-Aug;48(4):409-413. Epub 2019 Dec 9 doi: 10.1016/j.aller.2019.08.005. PMID: 31831191
Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP
J Allergy Clin Immunol 2019 Jun;143(6):2238-2253. Epub 2019 Jan 17 doi: 10.1016/j.jaci.2018.12.1010. PMID: 30660643
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. PMID: 23988001

Therapy

França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A
Expert Rev Clin Immunol 2019 May;15(5):529-540. Epub 2019 Feb 18 doi: 10.1080/1744666X.2019.1573674. PMID: 30681380
Lanternier F, Amazzough K, Favennec L, Mamzer-Bruneel MF, Abdoul H, Tourret J, Decramer S, Zuber J, Scemla A, Legendre C, Lortholary O, Bougnoux ME; ANOFEL Cryptosporidium National Network and Transplant Cryptosporidium Study Group
Transplantation 2017 Apr;101(4):826-830. doi: 10.1097/TP.0000000000001503. PMID: 27681270Free PMC Article
Allewelt H, Martin PL, Szabolcs P, Chao N, Buckley R, Parikh S
Pediatr Blood Cancer 2015 Dec;62(12):2216-22. Epub 2015 Aug 20 doi: 10.1002/pbc.25711. PMID: 26291959
Bishu S, Madhavan D, Perez P, Civitello L, Liu S, Fessler M, Holland SM, Jain A, Pao M
Pediatr Neurol 2009 Dec;41(6):419-27. doi: 10.1016/j.pediatrneurol.2009.07.003. PMID: 19931163Free PMC Article
Khawaja K, Gennery AR, Flood TJ, Abinun M, Cant AJ
Arch Dis Child 2001 Jun;84(6):508-11. doi: 10.1136/adc.84.6.508. PMID: 11369571Free PMC Article

Prognosis

Wang L, Luo Y, Li X, Li Y, Xia Y, He T, Huang Y, Xu Y, Yang Z, Ling J, Weng R, Zhu X, Qi Z, Yang J
Mycopathologia 2022 Dec;187(5-6):455-467. Epub 2022 Sep 30 doi: 10.1007/s11046-022-00659-0. PMID: 36180657Free PMC Article
Uygun DFK, Uygun V, Karasu GT, Daloğlu H, Öztürkmen SI, Çelmeli F, Törün SH, Özen A, Barış S, Aydıner EK, Yalçın K, Kılıç SÇ, Hazar V, Bingöl A, Yeşilipek A
Pediatr Transplant 2020 Sep;24(6):e13768. Epub 2020 Jun 23 doi: 10.1111/petr.13768. PMID: 32573870
França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A
Expert Rev Clin Immunol 2019 May;15(5):529-540. Epub 2019 Feb 18 doi: 10.1080/1744666X.2019.1573674. PMID: 30681380
Allewelt H, Martin PL, Szabolcs P, Chao N, Buckley R, Parikh S
Pediatr Blood Cancer 2015 Dec;62(12):2216-22. Epub 2015 Aug 20 doi: 10.1002/pbc.25711. PMID: 26291959
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. PMID: 23988001

Clinical prediction guides

Shin JJ, Catanzaro J, Yonkof JR, Delmonte O, Sacco K, Shin MS, Reddy S, Whittington PJ, Soffer G, Mustillo PJ, Sullivan KE, Notarangelo LD, Abraham RS, Romberg N, Kang I
J Clin Immunol 2021 May;41(4):795-806. Epub 2021 Jan 26 doi: 10.1007/s10875-021-00968-x. PMID: 33495902Free PMC Article
Du X, Tang W, Chen X, Zeng T, Wang Y, Chen Z, Xu T, Zhou L, Tang X, An Y, Zhao X
Scand J Immunol 2019 Oct;90(4):e12798. Epub 2019 Jul 21 doi: 10.1111/sji.12798. PMID: 31179555
Mitsui-Sekinaka K, Imai K, Sato H, Tomizawa D, Kajiwara M, Nagasawa M, Morio T, Nonoyama S
J Allergy Clin Immunol 2015 Oct;136(4):1018-24. Epub 2015 Mar 31 doi: 10.1016/j.jaci.2015.02.020. PMID: 25840720
Cabral-Marques O, Schimke LF, Pereira PV, Falcai A, de Oliveira JB, Hackett MJ, Errante PR, Weber CW, Ferreira JF, Kuntze G, Rosário-Filho NA, Ochs HD, Torgerson TR, Carvalho BT, Condino-Neto A
J Clin Immunol 2012 Apr;32(2):212-20. Epub 2011 Dec 23 doi: 10.1007/s10875-011-9623-6. PMID: 22193914
Zirlik A, Maier C, Gerdes N, MacFarlane L, Soosairajah J, Bavendiek U, Ahrens I, Ernst S, Bassler N, Missiou A, Patko Z, Aikawa M, Schönbeck U, Bode C, Libby P, Peter K
Circulation 2007 Mar 27;115(12):1571-80. Epub 2007 Mar 19 doi: 10.1161/CIRCULATIONAHA.106.683201. PMID: 17372166

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