Vijaya Gowri, Akshaya Chougule, Maya Gupta, Prasad Taur, Vaishnavi V Iyengar, Meena Sivasankaran, Deenadayalan Munirathnam, Sushma Krishna, Umair A Bargir, Aparna Dalvi, Priyanka Setia, Neha Jodhawat, Shweta Shinde, Shakuntala S Prabhu, Minnie Bodhanwala, Manisha R Madkaikar, Mukesh M Desai
DOCK8 deficiency affects various cell subsets belonging to both innate and adaptive immune systems. Clinical diagnosis is challenging as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in presumptive diagnosis of DOCK8 deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis. Currently, hematopoietic stem cell transplantation (HSCT) is the only curative treatment option available for these patients...
April 28, 2023: Scandinavian Journal of Immunology