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Wiskott-Aldrich syndrome 2(WAS2)

MedGen UID:
482631
Concept ID:
C3281001
Disease or Syndrome
Synonyms: WAS2; WIPF1 DEFICIENCY
 
Gene (location): WIPF1 (2q31.1)
 
Monarch Initiative: MONDO:0013779
OMIM®: 614493

Definition

Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by Lanzi et al., 2012). For a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS (301000). [from OMIM]

Clinical features

From HPO
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Eczematoid dermatitis
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Decreased proportion of CD8-positive T cells
MedGen UID:
374188
Concept ID:
C1839305
Finding
A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
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.
Defective T cell proliferation
MedGen UID:
868165
Concept ID:
C4022557
Cell or Molecular Dysfunction
A reduced ability of a T cell population to expand by cell division following T cell activation.

Professional guidelines

PubMed

Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E; workshop participants
J Allergy Clin Immunol 2016 Aug;138(2):375-85. Epub 2016 Apr 22 doi: 10.1016/j.jaci.2016.01.051. PMID: 27262745Free PMC Article
Farinelli G, Capo V, Scaramuzza S, Aiuti A
J Inherit Metab Dis 2014 Jul;37(4):525-33. Epub 2014 Mar 12 doi: 10.1007/s10545-014-9690-y. PMID: 24619149
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N
Biol Blood Marrow Transplant 2009 Jan;15(1 Suppl):84-90. doi: 10.1016/j.bbmt.2008.10.007. PMID: 19147084

Recent clinical studies

Etiology

Guerrero Espejo A, Tomás Dols S, Gestal MC
Rev Clin Esp (Barc) 2023 May;223(5):262-269. Epub 2023 Mar 25 doi: 10.1016/j.rceng.2023.03.004. PMID: 36972730
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S
Front Immunol 2021;12:627651. Epub 2021 Apr 16 doi: 10.3389/fimmu.2021.627651. PMID: 33936041Free PMC Article
Ariga T
Allergol Int 2012 Jun;61(2):183-9. Epub 2012 Feb 25 doi: 10.2332/allergolint.11-RAI-0412. PMID: 22361515
Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

Diagnosis

Velnati S, Centonze S, Rossino G, Purghè B, Antona A, Racca L, Mula S, Ruffo E, Malacarne V, Malerba M, Manfredi M, Graziani A, Baldanzi G
Front Immunol 2023;14:1043603. Epub 2023 Apr 17 doi: 10.3389/fimmu.2023.1043603. PMID: 37138877Free PMC Article
Guerrero Espejo A, Tomás Dols S, Gestal MC
Rev Clin Esp (Barc) 2023 May;223(5):262-269. Epub 2023 Mar 25 doi: 10.1016/j.rceng.2023.03.004. PMID: 36972730
Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S
Front Immunol 2021;12:627651. Epub 2021 Apr 16 doi: 10.3389/fimmu.2021.627651. PMID: 33936041Free PMC Article
Ariga T
Allergol Int 2012 Jun;61(2):183-9. Epub 2012 Feb 25 doi: 10.2332/allergolint.11-RAI-0412. PMID: 22361515
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N
Biol Blood Marrow Transplant 2009 Jan;15(1 Suppl):84-90. doi: 10.1016/j.bbmt.2008.10.007. PMID: 19147084

Therapy

Labrosse R, Chu JI, Armant MA, Everett JK, Pellin D, Kareddy N, Frelinger AL, Henderson LA, O'Connell AE, Biswas A, Coenen-van der Spek J, Miggelbrink A, Fiorini C, Adhikari H, Berry CC, Cantu VA, Fong J, Jaroslavsky J, Karadeniz DF, Li QZ, Reddy S, Roche AM, Zhu C, Whangbo JS, Dansereau C, Mackinnon B, Morris E, Koo SM, London WB, Baris S, Ozen A, Karakoc-Aydiner E, Despotovic JM, Forbes Satter LR, Saitoh A, Aizawa Y, King A, Nguyen MAT, Vu VDU, Snapper SB, Galy A, Notarangelo LD, Bushman FD, Williams DA, Pai SY
Blood 2023 Oct 12;142(15):1281-1296. doi: 10.1182/blood.2022019117. PMID: 37478401Free PMC Article
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, Bhatia P, Khadwal A, Raj R, Uppuluri R, Desai M, Taur P, Pandrowala AA, Gowri V, Madkaikar MR, Lashkari HP, Bhattad S, Kumar H, Verma S, Imai K, Nonoyama S, Ohara O, Chan KW, Lee PP, Lau YL, Singh S
Front Immunol 2021;12:627651. Epub 2021 Apr 16 doi: 10.3389/fimmu.2021.627651. PMID: 33936041Free PMC Article
Haskoloğlu Ş, Öztürk A, Öztürk G, Kostel Bal S, İslamoğlu C, Baskın K, Ceylaner S, Tufan Satıroğlu L, Doğu F, İkincioğulları A
Turk J Haematol 2020 Nov 19;37(4):271-281. Epub 2020 Aug 19 doi: 10.4274/tjh.galenos.2020.2020.0334. PMID: 32812413Free PMC Article
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article

Prognosis

Guerrero Espejo A, Tomás Dols S, Gestal MC
Rev Clin Esp (Barc) 2023 May;223(5):262-269. Epub 2023 Mar 25 doi: 10.1016/j.rceng.2023.03.004. PMID: 36972730
Ahn HR, Baek GO, Yoon MG, Son JA, Yoon JH, Cheong JY, Cho HJ, Kang HC, Eun JW, Kim SS
J Exp Clin Cancer Res 2022 Apr 28;41(1):158. doi: 10.1186/s13046-022-02365-7. PMID: 35477411Free PMC Article
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Haskoloğlu Ş, Öztürk A, Öztürk G, Kostel Bal S, İslamoğlu C, Baskın K, Ceylaner S, Tufan Satıroğlu L, Doğu F, İkincioğulları A
Turk J Haematol 2020 Nov 19;37(4):271-281. Epub 2020 Aug 19 doi: 10.4274/tjh.galenos.2020.2020.0334. PMID: 32812413Free PMC Article
Jyonouchi S, Gwafila B, Gwalani LA, Ahmad M, Moertel C, Holbert C, Kim JY, Kobrinsky N, Roy-Ghanta S, Orange JS
Clin Immunol 2017 Jun;179:47-53. Epub 2017 Feb 14 doi: 10.1016/j.clim.2017.02.001. PMID: 28232030

Clinical prediction guides

Obydennyi SI, Kuznetsova SA, Fedyanina OS, Khoreva A, Voronin K, Mazurov AV, Glukhova AA, Artemenko EO, Ataullakhanov FI, Maschan AA, Novichkova GA, Shcherbina A, Panteleev MA
Br J Haematol 2023 Aug;202(3):645-656. Epub 2023 May 23 doi: 10.1111/bjh.18875. PMID: 37221654
Limaye AJ, Whittaker MK, Bendzunas GN, Cowell JK, Kennedy EJ
Pharmacol Res 2022 Aug;182:106302. Epub 2022 Jun 9 doi: 10.1016/j.phrs.2022.106302. PMID: 35691539
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood 2022 Mar 31;139(13):2066-2079. doi: 10.1182/blood.2021014687. PMID: 35100336
Haskoloğlu Ş, Öztürk A, Öztürk G, Kostel Bal S, İslamoğlu C, Baskın K, Ceylaner S, Tufan Satıroğlu L, Doğu F, İkincioğulları A
Turk J Haematol 2020 Nov 19;37(4):271-281. Epub 2020 Aug 19 doi: 10.4274/tjh.galenos.2020.2020.0334. PMID: 32812413Free PMC Article
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article

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