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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
Primary Immune Deficiency Treatment Consortium (PIDTC) update.
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
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

BAR domain proteins regulate Rho GTPase signaling.
Aspenström P
Small GTPases 2014;5(2):7. doi: 10.4161/sgtp.28580. PMID: 25483303Free PMC Article
Gene therapy for PIDs: progress, pitfalls and prospects.
Mukherjee S, Thrasher AJ
Gene 2013 Aug 10;525(2):174-81. Epub 2013 Apr 6 doi: 10.1016/j.gene.2013.03.098. PMID: 23566838Free PMC Article
Gene therapy for primary immunodeficiencies: Part 2.
Aiuti A, Bacchetta R, Seger R, Villa A, Cavazzana-Calvo M
Curr Opin Immunol 2012 Oct;24(5):585-91. Epub 2012 Aug 18 doi: 10.1016/j.coi.2012.07.012. PMID: 22909900
Mucin-type O-glycans and leukosialin.
Fukuda M, Tsuboi S
Biochim Biophys Acta 1999 Oct 8;1455(2-3):205-17. doi: 10.1016/s0925-4439(99)00067-8. PMID: 10571013
Congenital thrombocytopenias.
Warrier I, Lusher JM
Curr Opin Hematol 1995 Sep;2(5):395-401. doi: 10.1097/00062752-199502050-00011. PMID: 9372025

Diagnosis

Immune deficiency and autoimmunity.
Atkinson TP
Curr Opin Rheumatol 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6. PMID: 22820513
Congenital neutropenia.
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220
Congenital thrombocytopenias.
Warrier I, Lusher JM
Curr Opin Hematol 1995 Sep;2(5):395-401. doi: 10.1097/00062752-199502050-00011. PMID: 9372025
The primary immunodeficiencies. (2).
Rosen FS, Cooper MD, Wedgwood RJ
N Engl J Med 1984 Aug 2;311(5):300-10. doi: 10.1056/NEJM198408023110506. PMID: 6429535
Hematologic indications for splenectomy.
Dameshek HL, Ellis LD
Surg Clin North Am 1975 Apr;55(2):253-275. doi: 10.1016/s0039-6109(16)40580-3. PMID: 1093264

Therapy

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
Gene therapy of primary T cell immunodeficiencies.
Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M
Gene 2013 Aug 10;525(2):170-3. Epub 2013 Apr 10 doi: 10.1016/j.gene.2013.03.092. PMID: 23583799
Gene therapy for PIDs: progress, pitfalls and prospects.
Mukherjee S, Thrasher AJ
Gene 2013 Aug 10;525(2):174-81. Epub 2013 Apr 6 doi: 10.1016/j.gene.2013.03.098. PMID: 23566838Free PMC Article
Gene therapy for primary adaptive immune deficiencies.
Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M
J Allergy Clin Immunol 2011 Jun;127(6):1356-9. doi: 10.1016/j.jaci.2011.04.030. PMID: 21624615
Congenital neutropenia.
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220

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
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
WASP and SCAR are evolutionarily conserved in actin-filled pseudopod-based motility.
Fritz-Laylin LK, Lord SJ, Mullins RD
J Cell Biol 2017 Jun 5;216(6):1673-1688. Epub 2017 May 4 doi: 10.1083/jcb.201701074. PMID: 28473602Free PMC Article
Inherited thrombocytopenias in the era of personalized medicine.
Noris P, Balduini CL
Haematologica 2015 Feb;100(2):145-8. doi: 10.3324/haematol.2014.122549. PMID: 25638803Free PMC Article
Immune deficiency and autoimmunity.
Atkinson TP
Curr Opin Rheumatol 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6. PMID: 22820513

Clinical prediction guides

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
Stress and trauma: BDNF control of dendritic-spine formation and regression.
Bennett MR, Lagopoulos J
Prog Neurobiol 2014 Jan;112:80-99. Epub 2013 Nov 6 doi: 10.1016/j.pneurobio.2013.10.005. PMID: 24211850
Gene therapy of primary T cell immunodeficiencies.
Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M
Gene 2013 Aug 10;525(2):170-3. Epub 2013 Apr 10 doi: 10.1016/j.gene.2013.03.092. PMID: 23583799
Prevalence of primary immunodeficiency in Korea.
Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, Kim HM, Park HJ, Pai KS, Son BK, Shin KS, Oh MY, Woo YJ, Yoo Y, Lee KS, Lee KY, Lee CG, Lee JS, Chung EH, Choi EH, Hahn YS, Park HY, Kim JG
J Korean Med Sci 2012 Jul;27(7):788-93. Epub 2012 Jun 29 doi: 10.3346/jkms.2012.27.7.788. PMID: 22787376Free PMC Article

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