Refractory Autoimmune Cytopenia in a Young Boy with a Novel LRBA Mutation Successfully Managed with Sirolimus

J Clin Immunol. 2020 Nov;40(8):1184-1186. doi: 10.1007/s10875-020-00835-1. Epub 2020 Sep 10.

Authors

Aaqib Zaffar Banday¹, Ankur Kumar Jindal², Rahul Tyagi¹, Shagun Singh¹, Pratap Kumar Patra¹, Yashwant Kumar³, Deepti Suri¹, Amit Rawat¹

Affiliations

¹ Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India.
² Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India. ankurjindal11@gmail.com.
³ Department of Immunopathology, Research Block-A, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

PMID: 32915433
DOI: 10.1007/s10875-020-00835-1

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Autoimmune Diseases / diagnosis
Autoimmune Diseases / drug therapy*
Autoimmune Diseases / etiology*
Disease Management
Disease Susceptibility
Genetic Predisposition to Disease
Humans
Immunosuppressive Agents / administration & dosage
Immunosuppressive Agents / therapeutic use*
Male
Mutation*
Pancytopenia / diagnosis
Pancytopenia / drug therapy*
Pancytopenia / etiology*
Sirolimus / administration & dosage
Sirolimus / therapeutic use*

Substances

Adaptor Proteins, Signal Transducing
Immunosuppressive Agents
LRBA protein, human
Sirolimus