Autoimmune Lymphoproliferative Syndrome: A Rare Paediatric Case Report
Published: April 1, 2026 | DOI: https://doi.org/10.7860/JCDR/2026/78371.23116
Vineeta Pande, Md Owais Ali Khan, Sarita Verma, Shailaja Mane, Buddha Ganesh Kumar
1. Professor and Head of Unit, Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pimpri, Pune, Maharashtra, India.
2. Resident, Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pimpri, Pune, Maharashtra, India.
3. Consultant Haematooncologist, Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pimpri, Pune, Maharashtra, India.
4. Professor and Head, Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pimpri, Pune, Maharashtra, India.
5. Resident, Department of Paediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pimpri, Pune, Maharashtra, India.
Correspondence
Md Owais Ali Khan,
T4-801, Mahindra Centralis, Pimpri, Pune, Maharashtra, India.
E-mail: owaiskhan2477@gmail.com
Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare disorder characterised by T-cell dysregulation resulting from impaired Fas cell surface death receptor (FAS)-mediated apoptosis. Approximately 500 cases have been reported globally. Pancytopenia with splenohepatomegaly in children presents a wide spectrum of differential diagnoses ranging from infectious and malignant to immunological aetiology. A three-year-old male child presented with fever, spleno-hepatomegaly, and pancytopenia. After excluding infectious and malignant causes, a diagnosis of ALPS was made. A positive direct Coombs test prompted the consideration of immunological causes for pancytopenia and splenomegaly. Hence, a double-negative T-cell subset (CD3+/TCR α/β+CD4-CD8-) in the peripheral blood was sent, which was elevated, confirmed the diagnosis of ALPS. The patient received treatment with intravenous human immunoglobulin, dexamethasone, and sirolimus, resulting in the resolution of cytopenia and splenomegaly. The present case highlights the diagnostic challenge of ALPS, even in the absence of lymphadenopathy. A dramatic clinical response to sirolimus was observed, emphasising the therapeutic potential of targeted Mammalian Target of Rapamycin (mTOR) inhibition in managing ALPS. Given the underdiagnosis of this condition, ALPS should be considered in cases of unexplained pancytopenia accompanied by lymphadenopathy or splenomegaly and autoimmunity.
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