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We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct <jats:italic>CXCR4<\/jats:italic> genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not diagnosed until adulthood. The prevalence and mean age of recognition and\/or onset of clinical manifestations within our cohort were infections 88%\/1.6 years, neutropenia 98%\/3.8 years, lymphopenia 88%\/5.0 years, and warts 40%\/12.1 years. However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previously. Patients with versus without family history of WHIM syndrome were diagnosed earlier (22%, average age 1.3 years versus 78%, average age 5 years, respectively). Patients with a family history of WHIM syndrome also received earlier treatment, experienced less hospitalization, and had less end-organ damage. This observation reinforces previous reports that early treatment for WHIM syndrome improves outcomes. Only one patient died; death was attributed to complications of hematopoietic stem cell transplantation. The variable expressivity of WHIM syndrome in pediatric patients delays their diagnosis and therapy. Early-onset bacterial infections with severe neutropenia and\/or lymphopenia should prompt genetic testing for WHIM syndrome, even in the absence of warts.<\/jats:p>","DOI":"10.1007\/s10875-022-01312-7","type":"journal-article","created":{"date-parts":[[2022,8,10]],"date-time":"2022-08-10T09:02:44Z","timestamp":1660122164000},"page":"1748-1765","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients"],"prefix":"10.1007","volume":"42","author":[{"given":"Christoph 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De-identified data were obtained through established USF material transfer agreements between each collaborating site under a waiver of consent (IRB protocol Pro00025693). Data obtained under consent was approved by USF IRB protocol, Pro00035468.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"Patients signed informed consent regarding publishing their data.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"X4 pharmaceuticals, Inc provided support in the form of salary for authors SP, KZ, IW, AB, AGT, and SBC and did not have any role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. SP, KZ, IW, and AGT are shareholder of X4 Pharmaceuticals. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The views expressed in this manuscript are those of the authors and do not reflect the official policy of the Department of Army, Department of Defense, or US Government.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}