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Wiskott-Aldrich syndrome 2(WAS2)

MedGen UID:: 482631
•Concept ID:: C3281001
•: Disease or Syndrome

Synonyms:	WAS2; WIPF1 DEFICIENCY

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Eczema

MedGen UID:: 3968
•Concept ID:: C0013595
•: Disease or Syndrome

Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.

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Recurrent infections

MedGen UID:: 65998
•Concept ID:: C0239998
•: Finding

Increased susceptibility to infections.

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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.

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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.

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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.

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Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Abnormality of the immune system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVWiskott-Aldrich syndrome 2

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Combined immunodeficiency
        Wiskott-Aldrich syndrome 2

Professional guidelines

PubMed

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: 27262745 Free PMC Article

Lentiviral vectors for the treatment of primary immunodeficiencies.

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

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

See all (22)

Recent clinical studies

Etiology

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

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: 33936041 Free 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

New and old immunodeficiencies.

Stiehm ER
Pediatr Res 1993 Jan;33(1 Suppl):S2-7; discussion S7-8. doi: 10.1203/00006450-199305001-00007. PMID: 8433870

See all (152)

Diagnosis

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: 37138877 Free PMC Article

Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.

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

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

See all (173)

Therapy

Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.

Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India.

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: 31826240 Free 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

See all (143)

Prognosis

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.

Clinical, Laboratory Features and Clinical Courses of Patients with Wiskott Aldrich Syndrome and X-linked Thrombocytopenia-A single center study.

Bildik HN, Cagdas D, Ozturk Kura A, Oskay Halacli S, Sanal O, Tezcan I
Immunol Invest 2022 Jul;51(5):1272-1283. Epub 2021 Jun 7 doi: 10.1080/08820139.2021.1933516. PMID: 34098853

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: 32812413 Free PMC Article

Acquired Isolated FVII Deficiency: An Underestimated and Potentially Important Laboratory Finding.

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

See all (123)

Clinical prediction guides

Targeting the WASF3 complex to suppress metastasis.

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

Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.

Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience.

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: 31826240 Free PMC Article

Faecal microbial dysbiosis in children with Wiskott-Aldrich syndrome.

Zhang L, Li YY, Tang X, Zhao X
Scand J Immunol 2020 Jan;91(1):e12805. Epub 2019 Nov 10 doi: 10.1111/sji.12805. PMID: 31267543

See all (189)