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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWiskott-Aldrich syndrome 2

Professional guidelines

PubMed

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment.
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
Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment.
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

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
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
Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.
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
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, Dávila Saldaña BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ
Blood 2020 Jun 4;135(23):2094-2105. doi: 10.1182/blood.2019002939. PMID: 32268350Free PMC Article
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features.
Ariga T
Allergol Int 2012 Jun;61(2):183-9. Epub 2012 Feb 25 doi: 10.2332/allergolint.11-RAI-0412. PMID: 22361515

Diagnosis

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Wiskott-Aldrich syndrome protein interacts and inhibits diacylglycerol kinase alpha promoting IL-2 induction.
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
Wiskott-Aldrich syndrome with macrothrombocytopenia.
Skoric D, Dimitrijevic A, Cuturilo G, Ivanovski P
Indian Pediatr 2014 Dec;51(12):1015-6. doi: 10.1007/s13312-014-0550-5. PMID: 25560165
Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features.
Ariga T
Allergol Int 2012 Jun;61(2):183-9. Epub 2012 Feb 25 doi: 10.2332/allergolint.11-RAI-0412. PMID: 22361515
Congenital neutropenia.
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220

Therapy

Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.
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
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
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
Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article
Congenital neutropenia.
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220
Bone marrow transplantation.
Gale RP
Crit Rev Oncol Hematol 1985;2(3):261-96. doi: 10.1016/s1040-8428(85)80004-4. PMID: 3915231

Prognosis

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias.
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
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
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
Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.
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
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, Dávila Saldaña BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ
Blood 2020 Jun 4;135(23):2094-2105. doi: 10.1182/blood.2019002939. PMID: 32268350Free PMC Article

Clinical prediction guides

Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH
Blood 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. PMID: 38579284
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
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
Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.
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
Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S
J Exp Med 2020 Jan 6;217(2) doi: 10.1084/jem.20190607. PMID: 31826240Free PMC Article
Wiskott-Aldrich syndrome with macrothrombocytopenia.
Skoric D, Dimitrijevic A, Cuturilo G, Ivanovski P
Indian Pediatr 2014 Dec;51(12):1015-6. doi: 10.1007/s13312-014-0550-5. PMID: 25560165

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