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Leukocyte-Adhesion Deficiency Syndrome

MedGen UID:
66116
Concept ID:
C0242597
Disease or Syndrome
Synonyms: Deficiency Syndrome, Leukocyte Adhesion; Deficiency Syndrome, Leukocyte-Adhesion; Leukocyte Adhesion Deficiency Syndrome; Leukocyte-Adhesion Deficiency Syndromes

Definition

Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeukocyte-Adhesion Deficiency Syndrome
Follow this link to review classifications for Leukocyte-Adhesion Deficiency Syndrome in Orphanet.

Professional guidelines

PubMed

Klaus T, Hieber C, Bros M, Grabbe S
Cells 2024 Jan 23;13(3) doi: 10.3390/cells13030212. PMID: 38334604Free PMC Article
Méndez Barrera JA, Rocha Guzmán S, Hierro Cascajares E, Garabedian EK, Fuleihan RL, Sullivan KE, Lugo Reyes SO
Clin Immunol 2023 Oct;255:109759. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109759. PMID: 37678719
Stepensky PY, Wolach B, Gavrieli R, Rousso S, Ben Ami T, Goldman V, Rozovsky K, Hanna S, Etzioni A, Weintraub M
J Pediatr Hematol Oncol 2015 May;37(4):264-8. doi: 10.1097/MPH.0000000000000228. PMID: 25072369

Recent clinical studies

Etiology

Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY
Blood Cells Mol Dis 2023 Mar;99:102726. Epub 2023 Jan 20 doi: 10.1016/j.bcmd.2023.102726. PMID: 36696755
Bakhtiar S, Salzmann-Manrique E, Blok HJ, Eikema DJ, Hazelaar S, Ayas M, Toren A, Goldstein G, Moshous D, Locatelli F, Merli P, Michel G, Öztürk G, Schulz A, Heilmann C, Ifversen M, Wynn RF, Aleinikova O, Bertrand Y, Tbakhi A, Veys P, Karakukcu M, Kupesiz A, Ghavamzadeh A, Handgretinger R, Unal E, Perez-Martinez A, Gokce M, Porta F, Aksu T, Karasu G, Badell I, Ljungman P, Skorobogatova E, Yesilipek A, Zuckerman T, Bredius RRG, Stepensky P, Shadur B, Slatter M, Gennery AR, Albert MH, Bader P, Lankester A
Blood Adv 2021 Jan 12;5(1):262-273. doi: 10.1182/bloodadvances.2020002185. PMID: 33570653Free PMC Article
van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D
Blood Cells Mol Dis 2012 Jan 15;48(1):53-61. Epub 2011 Nov 30 doi: 10.1016/j.bcmd.2011.10.004. PMID: 22134107Free PMC Article
Etzioni A, Tonetti M
Immunol Rev 2000 Dec;178:138-47. doi: 10.1034/j.1600-065x.2000.17805.x. PMID: 11213799
Becker DJ, Lowe JB
Biochim Biophys Acta 1999 Oct 8;1455(2-3):193-204. doi: 10.1016/s0925-4439(99)00071-x. PMID: 10571012

Diagnosis

Fazlollahi MR, Hamidieh AA, Moradi L, Shokouhi Shoormati R, Sabetkish N, Esmaeili B, Badalzadeh M, Alizadeh Z, Shamlou S, Movahedi M, Mahloujirad M, Razaghian A, Arshi S, Gharagozlou M, Kalantari A, Bemanian MH, Safari M, Heidarzadeh Arani M, Nabavi M, Parvaneh N, Sadeghi-Shabestari M, Behfar M, Behniafard N, Sherkat R, Ahmadian Heris J, Shariat M, Radmehr R, Houshmand M, Kazemnejad A, Molitor A, Carapito R, Bahram S, Pourpak Z, Moin M
Pediatr Allergy Immunol 2023 Jul;34(7):e13990. doi: 10.1111/pai.13990. PMID: 37492921
Kahraman AB, Yaz I, Gocmen R, Aytac S, Metin A, Kilic SS, Tezcan I, Cagdas D
J Clin Immunol 2023 Aug;43(6):1250-1258. Epub 2023 Apr 4 doi: 10.1007/s10875-023-01479-7. PMID: 37014583
Deshpande P, Kathirvel K, Alex AA, Korula A, George B, Shaji RV, Mathews V
Indian J Pediatr 2016 Aug;83(8):799-804. Epub 2016 Feb 29 doi: 10.1007/s12098-016-2051-0. PMID: 26924654
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am 2013 Feb;27(1):101-16, viii. Epub 2012 Nov 13 doi: 10.1016/j.hoc.2012.10.001. PMID: 23351991
Harris ES, Weyrich AS, Zimmerman GA
Curr Opin Hematol 2013 Jan;20(1):16-25. doi: 10.1097/MOH.0b013e32835a0091. PMID: 23207660Free PMC Article

Therapy

Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP
Blood 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. PMID: 38194689
Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, Esenboga S, Cekic S, Kilic SS, Keskin O, van Leeuwen K, Roos D, Cagdas D, Tezcan I
Clin Exp Immunol 2021 Oct;206(1):47-55. Epub 2021 Aug 5 doi: 10.1111/cei.13645. PMID: 34310689Free PMC Article
Bakhtiar S, Salzmann-Manrique E, Blok HJ, Eikema DJ, Hazelaar S, Ayas M, Toren A, Goldstein G, Moshous D, Locatelli F, Merli P, Michel G, Öztürk G, Schulz A, Heilmann C, Ifversen M, Wynn RF, Aleinikova O, Bertrand Y, Tbakhi A, Veys P, Karakukcu M, Kupesiz A, Ghavamzadeh A, Handgretinger R, Unal E, Perez-Martinez A, Gokce M, Porta F, Aksu T, Karasu G, Badell I, Ljungman P, Skorobogatova E, Yesilipek A, Zuckerman T, Bredius RRG, Stepensky P, Shadur B, Slatter M, Gennery AR, Albert MH, Bader P, Lankester A
Blood Adv 2021 Jan 12;5(1):262-273. doi: 10.1182/bloodadvances.2020002185. PMID: 33570653Free PMC Article
Wild MK, Lühn K, Marquardt T, Vestweber D
Cells Tissues Organs 2002;172(3):161-73. doi: 10.1159/000066968. PMID: 12476046
Etzioni A, Tonetti M
Immunol Rev 2000 Dec;178:138-47. doi: 10.1034/j.1600-065x.2000.17805.x. PMID: 11213799

Prognosis

Fekadu J, Modlich U, Bader P, Bakhtiar S
Int J Mol Sci 2022 Mar 25;23(7) doi: 10.3390/ijms23073578. PMID: 35408940Free PMC Article
Stepensky PY, Wolach B, Gavrieli R, Rousso S, Ben Ami T, Goldman V, Rozovsky K, Hanna S, Etzioni A, Weintraub M
J Pediatr Hematol Oncol 2015 May;37(4):264-8. doi: 10.1097/MPH.0000000000000228. PMID: 25072369
van de Vijver E, van den Berg TK, Kuijpers TW
Hematol Oncol Clin North Am 2013 Feb;27(1):101-16, viii. Epub 2012 Nov 13 doi: 10.1016/j.hoc.2012.10.001. PMID: 23351991
Pai SY, Kim C, Williams DA
Dis Markers 2010;29(3-4):177-87. doi: 10.3233/DMA-2010-0738. PMID: 21178276Free PMC Article
Arnaout MA
Immunol Rev 1990 Apr;114:145-80. doi: 10.1111/j.1600-065x.1990.tb00564.x. PMID: 1973407

Clinical prediction guides

Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, Esenboga S, Cekic S, Kilic SS, Keskin O, van Leeuwen K, Roos D, Cagdas D, Tezcan I
Clin Exp Immunol 2021 Oct;206(1):47-55. Epub 2021 Aug 5 doi: 10.1111/cei.13645. PMID: 34310689Free PMC Article
Bakhtiar S, Salzmann-Manrique E, Blok HJ, Eikema DJ, Hazelaar S, Ayas M, Toren A, Goldstein G, Moshous D, Locatelli F, Merli P, Michel G, Öztürk G, Schulz A, Heilmann C, Ifversen M, Wynn RF, Aleinikova O, Bertrand Y, Tbakhi A, Veys P, Karakukcu M, Kupesiz A, Ghavamzadeh A, Handgretinger R, Unal E, Perez-Martinez A, Gokce M, Porta F, Aksu T, Karasu G, Badell I, Ljungman P, Skorobogatova E, Yesilipek A, Zuckerman T, Bredius RRG, Stepensky P, Shadur B, Slatter M, Gennery AR, Albert MH, Bader P, Lankester A
Blood Adv 2021 Jan 12;5(1):262-273. doi: 10.1182/bloodadvances.2020002185. PMID: 33570653Free PMC Article
Hughes MJ, Sapey E, Stockley R
Expert Rev Respir Med 2019 Oct;13(10):951-967. Epub 2019 Aug 21 doi: 10.1080/17476348.2019.1654377. PMID: 31394045
Etzioni A
Adv Exp Med Biol 2007;601:51-60. doi: 10.1007/978-0-387-72005-0_5. PMID: 17712991
Etzioni A, Tonetti M
Immunol Rev 2000 Dec;178:138-47. doi: 10.1034/j.1600-065x.2000.17805.x. PMID: 11213799

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