학술논문
Clinical, immunological and molecular findings of patients with DOCK‐8 deficiency from India.
Document Type
Article
Author
Gowri, Vijaya; Chougule, Akshaya; Gupta, Maya; Taur, Prasad; Iyengar, Vaishnavi V.; Sivasankaran, Meena; Munirathnam, Deenadayalan; Krishna, Sushma; Bargir, Umair A.; Dalvi, Aparna; Setia, Priyanka; Jodhawat, Neha; Shinde, Shweta; Prabhu, Shakuntala S.; Bodhanwala, Minnie; Madkaikar, Manisha R.; Desai, Mukesh M.
Source
Subject
*HEMATOPOIETIC stem cell transplantation
*JOB'S syndrome
*GUANINE nucleotide exchange factors
*MOLECULAR spectra
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Language
ISSN
0300-9475
Abstract
DOCK8 deficiency affects various cell subsets belonging to both the 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 the presumptive diagnosis of DOCK8‐deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis. Currently, haematopoietic stem cell transplantation (HSCT) is the only curative treatment option available for these patients. There is a paucity of data from India on the clinical diversity and molecular spectrum of DOCK8 deficiency. In the present study, we report the clinical, immunological and molecular findings of 17 DOCK8‐deficient patients from India diagnosed over the last 5 years. [ABSTRACT FROM AUTHOR]