Current Medicine Research and Practice

: 2021  |  Volume : 11  |  Issue : 6  |  Page : 288--290

Early diagnosis of Wiskott-Aldrich syndrome in the neonatal period and successful haematopoietic stem cell transplant in infancy

Abdul Rauf1, Rakesh Kumar Pilania2, KM Abdul Latheef3, Revathi Raj4, Amit Rawat2,  
1 Department of Pediatrics, Baby Memorial Hospital, Calicut, Kerala, India
2 Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
3 Department of Pediatrics, Santi Hospital, Calicut, Kerala, India
4 Department of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, Apollo Children Hospital, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Abdul Rauf
Department of Pediatrics, Baby Memorial Hospital, Calicut - 673 004, Kerala


Wiskott-Aldrich syndrome (WAS) is a rare X-linked inborn error of immunity characterised by triad of eczema, microthrombocytopenia and recurrent infections. We herein report a case, where a male new-born with thrombocytopenia and no other symptoms was suspected of WAS in view of the significant family history of two previous sibling deaths. The diagnosis was confirmed by flowcytometry for WAS protein expression. He was initially managed with intravenous immunoglobulin replacement, regular cotrimoxazole prophylaxis, emollients and topical steroids for eczema (which child developed from the third month). The child underwent haematopoietic stem cell transplant (HSCT) at 8 months of age successfully and has remained asymptomatic at 5 years of follow-up. Early diagnosis of inborn error of immunity is extremely important for the prevention of complications and successful treatment including HSCT.

How to cite this article:
Rauf A, Pilania RK, Abdul Latheef K M, Raj R, Rawat A. Early diagnosis of Wiskott-Aldrich syndrome in the neonatal period and successful haematopoietic stem cell transplant in infancy.Curr Med Res Pract 2021;11:288-290

How to cite this URL:
Rauf A, Pilania RK, Abdul Latheef K M, Raj R, Rawat A. Early diagnosis of Wiskott-Aldrich syndrome in the neonatal period and successful haematopoietic stem cell transplant in infancy. Curr Med Res Pract [serial online] 2021 [cited 2022 Sep 27 ];11:288-290
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Full Text


Inborn errors of immunity (IEI), previously called primary immunodeficiency disorders refer to a group of heterogeneous genetic disorders characterised by poor or absent function of one or more components of the immune system.[1] Wiskott-Aldrich Syndrome (WAS) is a rare X-linked IEI characterised by triad of eczema, micro-thrombocytopenia and recurrent infections.[2] We report a case, where a diagnosis of WAS was confirmed in the neonatal period and haematopoietic stem cell transplant (HSCT) was done at 8 months of age successfully.

 Case Report

A 3-days-old male baby was admitted for hypoglycaemia and was incidentally found to have persistent thrombocytopenia. Baby was active, and there were no dysmorphic features or radial anomalies. Laboratory markers of sepsis were negative. Baby had significant family history. He was born of a non-consanguineous marriage, fourth in birth order. First child was a girl child who was 14 years, alive and well. Second child was a boy who had uneventful perinatal transition and was well till 6 months, when he developed petechial rashes with thrombocytopenia (platelet count – 18 × 109/L). He also had two episodes of ear discharges. He was managed as a case of immune thrombocytopenic purpura elsewhere, with corticosteroids and succumbed at 13 months of age due to intracranial haemorrhage. Third child was also a boy who developed oral cavity bleeds at 3 months of age (platelet count − 3 × 109/L). He was evaluated elsewhere as a suspected case of leukaemia and underwent multiple bone marrow examinations. He died at the age of 5 months after severe bleeding following central venous line insertion. Review of medical records revealed that elder one of expired male siblings had taken a dermatology consultation for eczema. The clinical features of thrombocytopenia, recurrent infections, eczema and male sex predilection raised the suspicion of WAS and index baby was investigated. Complete blood count showed isolated thrombocytopenia (haemoglobin: 140 g/L, total leucocyte count 12 × 109/L, neutrophils 30%, lymphocytes 70% and platelet count 60 × 109/L). Mean platelet volume was 5.6 fL (N: 7–10 fL). Flow cytometry (at age of 2 weeks) for WAS protein expression showed markedly reduced WAS protein expression on gated lymphocytes compared to healthy control, consistent with the diagnosis of WAS [Figure 1]. Serum immunoglobulin (Ig) values (at 3 months) showed lgG: 2.50 g/L (N: 2.50–13.00); IgA 0.60 g/L (N: 0.07–0.50) and IgM: 0.25 g/L (0.26–1.22). He was managed with intravenous Ig (IVIg) replacement (0.4 g/kg 3 weekly), cotrimoxazole prophylaxis, emollients and topical steroids for eczema that he developed at 3 months of age.{Figure 1}

He remained well till 6 months of age without any bleeds or significant infections. At 6 months, he developed gastrointestinal bleeds and severe thrombocytopenia that did not respond to high dose IVIg (2 g/kg). He was stabilised with platelet transfusion and glucocorticoids. HSCT with matched unrelated donor was done at 8 months of age. He received fludarabine, busulfan and horse anti-thymocyte globulin as conditioning chemotherapy followed by infusion of peripheral blood stem cells. His neutropenic phase was complicated by uncontrolled hypertension which settled with antihypertensive agents. He engrafted on day 15 and required prolonged immunosuppression for graft versus host disease of skin. All immunosuppressive medications were weaned of at 2 years post-HSCT. Currently, at 5 years of age, the patient remains asymptomatic and serial platelet counts have been in normal range. His donor chimerism has been consistently at 100% and did not require IVIg replacement since the time of discharge after HSCT.


Bleeding manifestations with thrombocytopenia (seen in >80%) and eczema (seen in 80%) are the most common clinical features of “classic” WAS.[3],[4] Recurrent infections occur due to complex immune abnormalities affecting both B- and T-cell functions. Gene responsible is WAS gene, which encodes for WAS protein, that is selectively expressed in haematopoietic cells.[3] Early diagnosis is key and management strategies include antimicrobial prophylaxis, Ig replacement and HSCT as the definitive cure.[5]

In our case, diagnosis was confirmed during the neonatal period, when child had isolated thrombocytopenia. The suspicion of WAS aroused from the medical records of symptoms of previous siblings, who were undiagnosed and had succumbed to the illness. This reaffirms the importance of taking detailed family history and scrutinising the medical records of previous affected family members in cases with a suspected genetic basis. We could not perform the genetic test in the index child as it was not easily accessible those days.

Due to increased understanding and availability, HSCT has improved survival of patients with IEIs. Understanding of specific immune abnormalities, medical management of complications, utilisation of recent advances like graft manipulation hold the key for successful HSCT in these patients.[6] Despite the recent advances and increasing availability of diagnostic and management facilities for IEIs, there are limitations which need to be addressed in developing countries. Awareness about these diseases among physicians needs to be improved. There is also requirement of better and easily available diagnostic facilities and HSCT, to improve the care of patients with IEIs.[7]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.


The authors acknowledge Dr. Yassar Andru, Consultant Paediatrician, Santi Hospital, Calicut for his assistance in patient management and Mr Jitendra K Shandiliya, PhD Scholar, Department of Paediatrics, PGIMER, Chandigarh for his assistance in doing flowcytometry

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


1Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the international union of immunological societies expert committee. J Clin Immunol 2020;40:24-64.
2Puck JM, Candotti F. Lessons from the Wiskott-Aldrich syndrome. N Engl J Med 2006;355:1759-61.
3Sullivan KE, Mullen CA, Blaese RM, Winke stein JA. A multi-institutional survey of the Wiskott Aldrich syndrome. J Pediatr 1994;125:876-85.
4Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, et al. Wiskott Aldrich syndrome: A multi-institutional experience from India. Front Immunol 2021;12:627651.
5Buchbinder D, Nugent DJ, Fillipovich AH. Wiskott-Aldrich syndrome: Diagnosis, current management, and emerging treatments. Appl Clin Genet 2014;7:55-66.
6Shamriz O, Chandrakasan S. Update on advances in hematopoietic cell transplantation for primary immunodeficiency disorders. Immunol Allergy Clin North Am 2019;39:113-28.
7Pilania RK, Chaudhary H, Jindal AK, Rawat A, Singh S. Current status and prospects of primary immunodeficiency diseases in Asia. Genes Dis 2020;7:3-11.