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Acquired Pure Red Cell Aplasia and Acquired Amegakaryocytic Thrombocytopenia Associated With Clonal Expansion of T-Cell Large Granular Lymphocytes in a Patient With Lipopolysaccharide-responsive Beige-like Anchor (LRBA) Protein Deficiency

Rajpurkar, Madhvi MD*,†; Buck, Steven MS*; Lafferty, Jennifer BSN, RN, CPN; Wakeling, Erin PhD; Ravindranath, Yaddanapudi MBBS*,†,§; Savaşan, Süreyya MD*,†,§

Journal of Pediatric Hematology/Oncology: September 04, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001292
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Acquired pure red cell aplasia and acquired amegakaryocytic thrombocytopenic purpura are rare in children. Similarly, clonal expansion of T-cell large granular lymphocytes is infrequently seen in pediatrics. Lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency is a recently described immunodeficiency syndrome that has been associated with inflammatory bowel disease and autoimmune phenomena such as Evans syndrome. Here, we describe a patient with LRBA deficiency who developed acquired pure red cell aplasia and acquired amegakaryocytic thrombocytopenic purpura associated with expansion of clonal T-cell large granular lymphocytes. This has not been described in the literature previously and adds to the knowledge on the spectrum of manifestations of LRBA deficiency.

*Carman and Ann Adams Department of Pediatrics, Wayne State University

§Bone Marrow Transplant Program, Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Children’s Hospital of Michigan

Children’s Hospital of Michigan

Molecular Genetics Laboratory, Detroit Medical Center University Laboratories, Detroit, MI

This work was supported in part by the Intramural Research Program of the NIAID, NIH. M.R. is supported by Purcell-Lusher Endowed chair at WSU and Y.R. is supported by Georgie Ginopolis Endowed chair at WSU; Hematology Oncology Division Research flow cytometry laboratory is supported by Padnos endowment.Patient and parents provided written informed consent on an IRB-approved research protocol at NIH.

The authors declare no conflict of interest.

Reprints: Madhvi Rajpurkar, MD, 3901 Beaubien St, Detroit, MI, 48201 (e-mail: mrajpurk@med.wayne.edu).

Received April 26, 2018

Accepted July 14, 2018

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