Publication Date

11-2023

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Abstract

Introduction Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency caused by a gain-of-function mutation in CXCR4. A complication of WHIM syndrome is severe neutropenia, which can result in fatal bacterial infections. Given the rarity of the disease and variability of clinical presentations, WHIM syndrome can be difficult to diagnose and manage. Case Description A full term male infant was hospitalized for hypoxic ischemic encephalopathy after delivery. Physical exam was unremarkable. During his hospitalization, he was found to have progressive pancytopenia. Initial lymphocyte subsets showed a significant T cell lymphopenia of 1325 mm3 CD3+, 920 mm3 CD4+, 390 mm3 CD8+, 42 mm3 CD19+, and natural killer (NK) cell count of 28 mm3. Naive CD4+ and CD8+ counts were also low. Immunoglobulin levels, lymphocyte to proliferation for mitogen, newborn screen, Epstein-Barr virus, and parvovirus were normal. Repeat lymphocyte subsets showed persistently low T, B, and NK cells without improvement. A comprehensive bone marrow panel showed a pathogenic variant in CXCR4. At two-years-of-age, he continues to have severe neutropenia. He has not had severe infections and has not required granulocyte-colony stimulating factor (G-CSF) therapy. Discussion WHIM syndrome may not present with all features. Treatment may include G-CSF, immunoglobulin replacement, prophylactic antibiotics, wart destruction, and stem cell transplant. A potential new treatment is plerixafor, which is a competitive antagonist of CXCR4. Its effectiveness and safety compared to G-CSF has not been established. Despite multiple treatment options, there is no standardized treatment. Early diagnosis and standardized therapy may help with preventing disease progression.

Disciplines

Allergy and Immunology | Pediatrics

Notes

Presented at the American College of Allergy, Asthma & Immunology (ACAAI) 2023 Annual Scientific Meeting; Anaheim, California; November 9-13th, 2023.

Evaluating a Newborn Infant with Pancytopenia for WHIM Syndrome

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