SPENCD Presenting with Evans Phenotype and Clinical Response to JAK1/2 Inhibitors-a Report of 2 Cases

J Clin Immunol. 2023 Feb;43(2):331-334. doi: 10.1007/s10875-022-01400-8. Epub 2022 Nov 14.

Authors

Akshaya Chougule¹, Prasad Taur¹, Vijaya Gowri¹; C. O. E. Consortium; Mukesh M Desai²

Collaborators

C. O. E. Consortium:
Vaishnavi V Iyengar, Sangeeta Mudaliar, Manisha R Madkaikar, Minnie Bodhanwala

Affiliations

¹ Department of Paediatric Immunology, B. J. Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, 400012, India.
² Department of Paediatric Immunology, B. J. Wadia Hospital for Children, Acharya Donde Marg, Parel, Mumbai, 400012, India. desai.mm18007@gmail.com.

PMID: 36376765
DOI: 10.1007/s10875-022-01400-8

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Autoimmune Diseases* / genetics
Humans
Immunologic Deficiency Syndromes*
Janus Kinase 1 / genetics
Osteochondrodysplasias* / genetics
Phenotype

Substances

Janus Kinase 1
JAK1 protein, human

Supplementary concepts

Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia