Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

doi:10.1007/s10875-024-01848-w

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Article

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Journal of clinical immunology - 17 Dec 2024

Gaikwad Pallavi, Bargir Umair A, Jodhawat Neha, Dalvi Aparna, Shinde Shweta, Tamhankar Parag, Setia Priyanka, Kambli Priyanka, Dhawale Amruta, Temkar Lavina, Vedpathak Disha, Jose Amrutha, Gupta Maya, Yadav-Malik Reetika, Dutta Shubhankar, Bose Kokoli, Taur Prasad, Gowri Vijaya, Iyengar Vaishnavi, Chougule Akshaya, Desai Mukesh, Sivasankaran Meena, Bhattad Sagar, Balaji Sarath, Mudaliar Sangeeta, Kacha Ashruti, Subramanian Girish, Patel Swati, Sharma Sujata, Sampagar Abhilasha, Madkaikar Manisha

Abstract excerpt

PURPOSE: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years. METHODS: Clinical and family history was collected from case records. Comprehensive immunological assessments...

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PMID: 39688652
DOI: 10.1007/s10875-024-01848-w

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