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Leukocyte adhesion deficiency

MedGen UID:
124419
Concept ID:
C0272187
Disease or Syndrome
Synonyms: Congenital leukocyte adherence deficiency; Leukocyte Adhesion Deficiency
SNOMED CT: Congenital leukocyte adherence deficiency (77358003); Leukocyte adhesion deficiency (77358003)
 

Definition

A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections. [from NCI]

Recent clinical studies

Etiology

Bauer TR Jr, Tuschong LM, Calvo KR, Shive HR, Burkholder TH, Karlsson EK, West RR, Russell DW, Hickstein DD
Mol Ther 2013 May;21(5):964-72. Epub 2013 Mar 26 doi: 10.1038/mt.2013.34. [Epub ahead of print] PMID: 23531552Free 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. [Epub ahead of print] PMID: 22134107
Madkaikar M, Currimbhoy Z, Gupta M, Desai M, Rao M
Indian Pediatr 2012 Jan;49(1):43-5. Epub 2011 May 30 [Epub ahead of print] PMID: 21719937
Al-Dhekri H, Al-Mousa H, Ayas M, Al-Muhsen S, Al-Ghonaium A, Al-Ghanam G, Al-Saud B, Arnaout R, Al-Seraihy A, Al-Ahmari A, Al-Jefri A, Al-Mahr M, El-Solh H
Biol Blood Marrow Transplant 2011 Aug;17(8):1245-9. Epub 2011 Jan 8 doi: 10.1016/j.bbmt.2010.12.714. [Epub ahead of print] PMID: 21220036
Hamidieh AA, Pourpak Z, Alimoghaddam K, Movahedi M, Bahoush G, Behmanesh F, Moin M, Ghavamzadeh A
Pediatr Transplant 2011 Mar;15(2):E30-3. doi: 10.1111/j.1399-3046.2009.01239.x. PMID: 19912557

Diagnosis

Esmaeili B, Ghadami M, Fazlollahi MR, Niroomanesh S, Atarod L, Chavoshzadeh Z, Moradi Z, Alizadeh Z, Pourpak Z
Iran J Allergy Asthma Immunol 2014 Feb;13(1):61-5. PMID: 24338230
Harris ES, Weyrich AS, Zimmerman GA
Curr Opin Hematol 2013 Jan;20(1):16-25. doi: 10.1097/MOH.0b013e32835a0091. PMID: 23207660Free PMC Article
Vásquez-De Kartzow R, Jesam C, Nehgme V, Várgas F, Sepúlveda C
Sao Paulo Med J 2012;130(4):263-6. PMID: 22965369
Nagendran J, Prakash C, Anandakrishna L, Gaviappa D, Ganesh D
J Dent Child (Chic) 2012 May-Aug;79(2):105-10. PMID: 22828768
Madkaikar M, Currimbhoy Z, Gupta M, Desai M, Rao M
Indian Pediatr 2012 Jan;49(1):43-5. Epub 2011 May 30 [Epub ahead of print] PMID: 21719937

Therapy

Esmaeili B, Ghadami M, Fazlollahi MR, Niroomanesh S, Atarod L, Chavoshzadeh Z, Moradi Z, Alizadeh Z, Pourpak Z
Iran J Allergy Asthma Immunol 2014 Feb;13(1):61-5. PMID: 24338230
Bauer TR Jr, Tuschong LM, Calvo KR, Shive HR, Burkholder TH, Karlsson EK, West RR, Russell DW, Hickstein DD
Mol Ther 2013 May;21(5):964-72. Epub 2013 Mar 26 doi: 10.1038/mt.2013.34. [Epub ahead of print] PMID: 23531552Free PMC Article
Peters T, Bloch W, Pabst O, Wickenhauser C, Uthoff-Hachenberg C, Schmidt SV, Varga G, Grabbe S, Kess D, Oreshkova T, Sindrilaru A, Addicks K, Förster R, Müller W, Scharffetter-Kochanek K
Clin Dev Immunol 2012;2012:450738. Epub 2012 Mar 4 doi: 10.1155/2012/450738. PMID: 22474478Free PMC Article
Nord KM, Pappert AS, Grossman ME
Pediatr Dermatol 2011 Mar-Apr;28(2):156-61. Epub 2011 Mar 2 doi: 10.1111/j.1525-1470.2010.01123.x. [Epub ahead of print] PMID: 21366684
Al-Dhekri H, Al-Mousa H, Ayas M, Al-Muhsen S, Al-Ghonaium A, Al-Ghanam G, Al-Saud B, Arnaout R, Al-Seraihy A, Al-Ahmari A, Al-Jefri A, Al-Mahr M, El-Solh H
Biol Blood Marrow Transplant 2011 Aug;17(8):1245-9. Epub 2011 Jan 8 doi: 10.1016/j.bbmt.2010.12.714. [Epub ahead of print] PMID: 21220036

Prognosis

Bauer TR Jr, Tuschong LM, Calvo KR, Shive HR, Burkholder TH, Karlsson EK, West RR, Russell DW, Hickstein DD
Mol Ther 2013 May;21(5):964-72. Epub 2013 Mar 26 doi: 10.1038/mt.2013.34. [Epub ahead of print] PMID: 23531552Free PMC Article
Vásquez-De Kartzow R, Jesam C, Nehgme V, Várgas F, Sepúlveda C
Sao Paulo Med J 2012;130(4):263-6. PMID: 22965369
Madkaikar M, Currimbhoy Z, Gupta M, Desai M, Rao M
Indian Pediatr 2012 Jan;49(1):43-5. Epub 2011 May 30 [Epub ahead of print] PMID: 21719937
Nord KM, Pappert AS, Grossman ME
Pediatr Dermatol 2011 Mar-Apr;28(2):156-61. Epub 2011 Mar 2 doi: 10.1111/j.1525-1470.2010.01123.x. [Epub ahead of print] PMID: 21366684
Hamidieh AA, Pourpak Z, Alimoghaddam K, Movahedi M, Bahoush G, Behmanesh F, Moin M, Ghavamzadeh A
Pediatr Transplant 2011 Mar;15(2):E30-3. doi: 10.1111/j.1399-3046.2009.01239.x. PMID: 19912557

Clinical prediction guides

Meller J, Malinin NL, Panigrahi S, Kerr BA, Patil A, Ma Y, Venkateswaran L, Rogozin IB, Mohandas N, Ehlayel MS, Podrez EA, Chinen J, Byzova TV
J Thromb Haemost 2012 Jul;10(7):1397-408. doi: 10.1111/j.1538-7836.2012.04768.x. PMID: 22564402Free PMC Article
Peters T, Bloch W, Pabst O, Wickenhauser C, Uthoff-Hachenberg C, Schmidt SV, Varga G, Grabbe S, Kess D, Oreshkova T, Sindrilaru A, Addicks K, Förster R, Müller W, Scharffetter-Kochanek K
Clin Dev Immunol 2012;2012:450738. Epub 2012 Mar 4 doi: 10.1155/2012/450738. PMID: 22474478Free PMC Article
Simon AJ, Lev A, Wolach B, Gavrieli R, Amariglio N, Rosenthal E, Gazit E, Eyal E, Rechavi G, Somech R
PLoS One 2010 Nov 16;5(11):e13659. doi: 10.1371/journal.pone.0013659. PMID: 21103413Free PMC Article
Jurk K, Schulz AS, Kehrel BE, Räpple D, Schulze H, Möbest D, Friedrich WW, Omran H, Deak E, Henschler R, Scheele JS, Zieger B
Thromb Haemost 2010 May;103(5):1053-64. Epub 2010 Mar 9 doi: 10.1160/TH09-10-0689. [Epub ahead of print] PMID: 20216991
Kilic SS, Etzioni A
J Clin Immunol 2009 Jan;29(1):117-22. Epub 2008 Aug 16 doi: 10.1007/s10875-008-9226-z. [Epub ahead of print] PMID: 18709451

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