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Wiskott-Aldrich syndrome 2(WAS2)

MedGen UID:
482631
Concept ID:
C3281001
Disease or Syndrome
Synonyms: WAS2; WIPF1 DEFICIENCY; WISKOTT-ALDRICH SYNDROME 2 (1 patient)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): WIPF1 (2q31.1)
OMIM®: 614493

Clinical features

Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Reduced natural killer cell activity
MedGen UID:
333452
Concept ID:
C1839969
Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Reduced natural killer cell activity
MedGen UID:
333452
Concept ID:
C1839969
Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. It is not dangerous, but most types cause red, swollen and itchy skin. Factors that can cause eczema include other diseases, irritating substances, allergies and your genetic makeup. Eczema is not contagious. The most common type of eczema is atopic dermatitis. It is an allergic condition that makes your skin dry and itchy. It is most common in babies and children. Eczema is a chronic disease. You can prevent some types of eczema by avoiding irritants, stress, and the things you are allergic to.

Recent clinical studies

Etiology

Baharin MF, Kader Ibrahim SB, Yap SH, Abdul Manaf AM, Mat Ripen A, Dhaliwal JS
Malays J Pathol 2015 Aug;37(2):153-8. PMID: 26277674
Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabéra C, Moshous D, Neven B, Picard C, de Saint-Basile G, Cavazzana-Calvo M, Blanche S, Fischer A
Blood 2013 Feb 28;121(9):1510-6. Epub 2012 Dec 20 doi: 10.1182/blood-2012-08-448118. PMID: 23264593
Ariga T
Allergol Int 2012 Jun;61(2):183-9. Epub 2012 Feb 25 doi: 10.2332/allergolint.11-RAI-0412. PMID: 22361515
Yu H, Liu T, Meng W, Hou L
Int J Hematol 2010 Sep;92(2):271-5. Epub 2010 Aug 4 doi: 10.1007/s12185-010-0644-3. PMID: 20683686
Zhang ZY, Xiao HQ, Jiang LP, Zhou Y, Zhao Q, Yu J, Liu W, Yang XQ, Zhao XD
Pediatr Allergy Immunol 2010 May;21(3):522-32. doi: 10.1111/j.1399-3038.2010.00996.x. PMID: 20546529

Diagnosis

Baharin MF, Kader Ibrahim SB, Yap SH, Abdul Manaf AM, Mat Ripen A, Dhaliwal JS
Malays J Pathol 2015 Aug;37(2):153-8. PMID: 26277674
Skoric D, Dimitrijevic A, Cuturilo G, Ivanovski P
Indian Pediatr 2014 Dec;51(12):1015-6. PMID: 25560165
Tavil B, Erdem AY, Azik F, Isik P, Metin A, Emir S, Uckan D, Tunc B
Pediatr Transplant 2013 Sep;17(6):E146-8. Epub 2013 Jun 17 doi: 10.1111/petr.12114. PMID: 23773507
Sano H, Kobayashi R, Suzuki D, Yasuda K, Nakanishi M, Nagashima T, Yamada M, Kobayashi K
Int J Hematol 2012 Aug;96(2):279-83. Epub 2012 Jun 27 doi: 10.1007/s12185-012-1130-x. PMID: 22736231
Ariga T
Allergol Int 2012 Jun;61(2):183-9. Epub 2012 Feb 25 doi: 10.2332/allergolint.11-RAI-0412. PMID: 22361515

Therapy

Gerrits AJ, Leven EA, Frelinger AL 3rd, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, Michelson AD, Bussel JB
Blood 2015 Sep 10;126(11):1367-78. Epub 2015 Jul 29 doi: 10.1182/blood-2014-09-602573. PMID: 26224646Free PMC Article
Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M
JAMA 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253. PMID: 25898053Free PMC Article
Koldej RM, Carney G, Wielgosz MM, Zhou S, Zhan J, Sorrentino BP, Nienhuis AW
Hum Gene Ther Clin Dev 2013 Jun;24(2):77-85. Epub 2013 Jun 20 doi: 10.1089/humc.2012.244. PMID: 23786330Free PMC Article
Tavil B, Erdem AY, Azik F, Isik P, Metin A, Emir S, Uckan D, Tunc B
Pediatr Transplant 2013 Sep;17(6):E146-8. Epub 2013 Jun 17 doi: 10.1111/petr.12114. PMID: 23773507
Pai SY, Notarangelo LD
Immunol Allergy Clin North Am 2010 May;30(2):179-94. doi: 10.1016/j.iac.2010.02.001. PMID: 20493395Free PMC Article

Prognosis

Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabéra C, Moshous D, Neven B, Picard C, de Saint-Basile G, Cavazzana-Calvo M, Blanche S, Fischer A
Blood 2013 Feb 28;121(9):1510-6. Epub 2012 Dec 20 doi: 10.1182/blood-2012-08-448118. PMID: 23264593
Yoon SH, Cho T, Kim HJ, Kim SY, Ko JH, Baek HS, Lee HJ, Lee CH
Pediatr Blood Cancer 2012 Feb;58(2):297-9. Epub 2011 Oct 28 doi: 10.1002/pbc.23377. PMID: 22038941
Pellier I, Dupuis Girod S, Loisel D, Benabidallah S, Proust A, Malhlaoui N, Picard C, Najioullah F, de Saint Basile G, Blanche S, Rialland X, Casanova JL, Fischer A
Pediatrics 2011 Feb;127(2):e498-504. Epub 2011 Jan 24 doi: 10.1542/peds.2009-2987. PMID: 21262885
Du S, Scuderi R, Malicki DM, Willert J, Bastian J, Weidner N
Pediatr Dev Pathol 2011 Jan-Feb;14(1):64-70. Epub 2010 Apr 29 doi: 10.2350/10-01-0787-CR.1. PMID: 20429642
Lee WI, Huang JL, Jaing TH, Wu KH, Chien YH, Chang KW
J Clin Immunol 2010 Jul;30(4):593-601. Epub 2010 Mar 16 doi: 10.1007/s10875-010-9381-x. PMID: 20232122

Clinical prediction guides

Gerrits AJ, Leven EA, Frelinger AL 3rd, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, Michelson AD, Bussel JB
Blood 2015 Sep 10;126(11):1367-78. Epub 2015 Jul 29 doi: 10.1182/blood-2014-09-602573. PMID: 26224646Free PMC Article
Hacein-Bey Abina S, Gaspar HB, Blondeau J, Caccavelli L, Charrier S, Buckland K, Picard C, Six E, Himoudi N, Gilmour K, McNicol AM, Hara H, Xu-Bayford J, Rivat C, Touzot F, Mavilio F, Lim A, Treluyer JM, Héritier S, Lefrère F, Magalon J, Pengue-Koyi I, Honnet G, Blanche S, Sherman EA, Male F, Berry C, Malani N, Bushman FD, Fischer A, Thrasher AJ, Galy A, Cavazzana M
JAMA 2015 Apr 21;313(15):1550-63. doi: 10.1001/jama.2015.3253. PMID: 25898053Free PMC Article
Skoric D, Dimitrijevic A, Cuturilo G, Ivanovski P
Indian Pediatr 2014 Dec;51(12):1015-6. PMID: 25560165
Toscano MG, Anderson P, Muñoz P, Lucena G, Cobo M, Benabdellah K, Gregory PD, Holmes MC, Martin F
Dis Model Mech 2013 Mar;6(2):544-54. Epub 2013 Jan 11 doi: 10.1242/dmm.010652. PMID: 23324327Free PMC Article
Mahlaoui N, Pellier I, Mignot C, Jais JP, Bilhou-Nabéra C, Moshous D, Neven B, Picard C, de Saint-Basile G, Cavazzana-Calvo M, Blanche S, Fischer A
Blood 2013 Feb 28;121(9):1510-6. Epub 2012 Dec 20 doi: 10.1182/blood-2012-08-448118. PMID: 23264593

Recent systematic reviews

Girolami A, Santarossa C, Cosi E, Ferrari S, Lombardi AM
Clin Appl Thromb Hemost 2016 Nov;22(8):705-711. Epub 2015 Aug 31 doi: 10.1177/1076029615599440. PMID: 26329909
Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT
J Allergy Clin Immunol 2008 Dec;122(6):1087-96. Epub 2008 Nov 6 doi: 10.1016/j.jaci.2008.09.045. PMID: 18992926Free PMC Article
Shannon KM, Ammann AJ
J Pediatr 1985 Feb;106(2):332-42. PMID: 2982008

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