Case Report

Clinical Manifestations of Wiskott-Aldrich Syndrome in an Iranian Patient

Abstract

Wiskott-Aldrich Syndrome (WAS) is an immunodeficiency disorder resulting from genetic mutations in the WAS protein (WASP) gene in the X chromosome, characterized by thrombocytopenia, eczema, and infections. This case report focused on a 12-year-old Iranian male with WAS with a history of Crohn’s disease, meningitis, and bilateral hernia. His WAS was diagnosed at age six with a hemizygous c.777+1 G>A mutation in the WASP gene. The patient was referred to our clinic with symptoms including fever, abdominal pain, thrombocytopenia, and elevated ESR. Clinical Imaging revealed a significant lung nodule align bronchiectasis, mild ascites, bilateral epididymitis, and lymphadenopathy. Nephrotic syndrome with proteinuria and low levels of albumin have been observed. After six months of receiving intravenous immunoglobulin (IVIG) therapy in addition to antibiotics and antivirals, the patient suffered from arthritis, edema, and fever. Our WAS patient presented the late comorbidity of renal involvement, which highlights the monitoring of this patient, such as those involved in chronic infections. Therefore, a precise treatment approach is needed to manage either the primary immunodeficiency or the late-discovered diseases.

1. Ochs HDThrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2006;117(4):725-38; quiz 39.
2. Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LDNelson DL. Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest. 1996;97(11):2627-34.
3. Thrasher AJBurns SO. WASP: a key immunological multitasker. Nat Rev Immunol. 2010;10(3):182-92.
4. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104(13):4010-19.
5. Malinova D, Fritzsche M, Nowosad CR, Armer H, Munro PM, Blundell MP, et al. WASp-dependent actin cytoskeleton stability at the dendritic cell immunological synapse is required for extensive, functional T cell contacts. J Leukoc Biol. 2016;99(5):699-710.
6. Meyer-Bahlburg A, Becker-Herman S, Humblet-Baron S, Khim S, Weber M, Bouma G, et al. Wiskott-Aldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis. Blood. 2008;112(10):4158-69.
7. Sun X, Wei Y, Lee PP, Ren BLiu C. The role of WASp in T cells and B cells. Cell Immunol. 2019;341:103919.
8. Ben-Shmuel A, Sabag B, Biber GBarda-Saad M. The Role of the Cytoskeleton in Regulating the Natural Killer Cell Immune Response in Health and Disease: From Signaling Dynamics to Function. Front Cell Dev Biol. 2021;9:609532.
9. Bosticardo M, Marangoni F, Aiuti A, Villa AGrazia Roncarolo M. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood. 2009;113(25):6288-95.
10. Ariga T. Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. Allergol Int. 2012;61(2):183-9.
11. Eghbali M, Sadeghi-Shabestari M, Najmi Varzaneh F, Zare Bidoki ARezaei N. Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature. Allergol Immunopathol (Madr). 2016;44(5):450-4.
12. Alemayehu TVinh DC. A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature. J Clin Immunol. 2023;43(6):1272-77.
13. Sudhakar M, Rikhi R, Loganathan SK, Suri DSingh S. Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives. Appl Clin Genet. 2021;14:363-88.
14. R P, Shanmugam G, Rakshit SSarkar K. Role of Wiskott Aldrich syndrome protein in haematological malignancies: genetics, molecular mechanisms and therapeutic strategies. Pathol Res Pract. 2024;253:155026.
15. Spitler LE, Wray BB, Mogerman S, Miller III JJ, O'Reilly RJLagios M. Nephropathy in the Wiskott-Aldrich syndrome. Pediatrics. 1980;66(3):391-98.
16. Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2010;115(16):3231-8.
17. Catucci M, Castiello MC, Pala F, Bosticardo MVilla A. Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma. Front Immunol. 2012;3:209.
18. Román-Razo EA, González-Serrano EEspinosa-Padilla S. Autoinmunidad en el síndrome de Wiskott-Aldrich. Alergia, Asma e Inmunología Pediátricas. 2020;28(3):83-87.
19. Shimizu M, Nikolov NP, Ueno K, Ohta K, Siegel RM, Yachie A, et al. Development of IgA nephropathy-like glomerulonephritis associated with Wiskott-Aldrich syndrome protein deficiency. Clin Immunol. 2012;142(2):160-6.
20. Liu CH, Wu KH, Lin TY, Wei CC, Lin CY, Chen XX, et al. Wiskott-Aldrich syndrome with IgA nephropathy: a case report and literature review. Int Urol Nephrol. 2013;45(5):1495-500.
Files
IssueVol 6, No 3 (2023) QRcode
SectionCase Report
DOI https://doi.org/10.18502/igj.v6i3.16576
Keywords
Wiskott-Aldrich Syndrome X-Linked Recessive Immunodeficiency Primary Immunodeficiency Thrombocytopenia
Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Yousefpourmarzbali M, Fazel M, Nourbakhsh SMK, Kalantari A. Clinical Manifestations of Wiskott-Aldrich Syndrome in an Iranian Patient. Immunol Genet J. 2023;6(3):115-120.