Laboratory Studies

Laboratory findings in X-linked lymphoproliferative (XLP) syndrome include the following:

Peripheral blood smears will show atypical lymphocytosis.
Serum chemistry profiles will show transaminitis and other findings of acute hepatitis.
Coagulation studies will be abnormal in patients with liver failure.

Patients with acute Epstein-Barr virus (EBV) infection will demonstrate positive serologic tests for EBV IgM antibodies and quantitative EBV-specific polymerase chain reaction (EBV-PCR). However, as many as one third of patients in the acute infection phase do not produce antibodies, probably due to impaired lymphocyte function and response to EBV antigens.

A definitive diagnosis of XLP is with mutation analysis for the SH2D1A or XIAP gene mutation. Flow cytometry can be used to measure lymphocyte SAP or XIAP protein expression and can be used to detect lymphocyte phenotypes and functional defects related to XLP.^{[15, 16]}

Histologic Findings

Liver biopsy results typically show an intense periportal B-cell lymphoid infiltrate containing EBV-nuclear antigen (EBNA-1) often surrounded by numerous CD8-positive T lymphocytes and natural killer cells. In later stages, periportal necrosis is observed in most patients. Other organs that can be involved include the liver, heart, brain, and thymus. Findings in the bone marrow are generally reactive.

Treatment & Management

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Author

Karen Seiter, MD Professor, Department of Internal Medicine, Division of Oncology/Hematology, New York Medical College

Karen Seiter, MD is a member of the following medical societies: American Association for Cancer Research, American College of Physicians, American Society of Hematology

Disclosure: Received honoraria from Novartis for speaking and teaching; Received consulting fee from Novartis for speaking and teaching; Received honoraria from Celgene for speaking and teaching.

Coauthor(s)

Doris Ponce, MD Fellow, Department of Hematology/Oncology, New York Medical College

Doris Ponce, MD is a member of the following medical societies: American College of Physicians, American Medical Association, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Koyamangalath Krishnan, MD, FRCP, FACP Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, Royal College of Physicians

Disclosure: Nothing to disclose.

Acknowledgements

M Wayne Saville, MD Associate Professor of Clinical Medicine, University of California at San Diego; Director, Hematology and Oncology, Global Medical Affairs, Biogen Idec, Inc

M Wayne Saville, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine and Sigma Xi

Disclosure: Nothing to disclose.

Sections X-linked Lymphoproliferative Syndrome
Overview
Presentation
DDx
Workup
Treatment
Medication
Questions & Answers
References

X-linked Lymphoproliferative Syndrome Workup

Laboratory Studies

Histologic Findings

References

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