Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 8 3 2025 03 12 303 307 Shayan Roshdi School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany Sepideh Shahkarami Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran Samaneh Zoghi Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria Elham Rayzan Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; 4 Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran Rasol Molatefi Pediatric department of Bou-Ali Educational Hospital, Ardabil University of Medical Sciences, Ardabil, Iran Meino Rohlfs Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany Christoph Klein Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany Nima Rezaei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran 2025 01 16 2025 03 12 WHIM syndrome (Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome), a type of severe congenital neutropenia (SCN), involves Warts, Hypogammaglobulinemia, Infections, and Myelokathexis as its main components of clinical presentation, which results from mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. Here, we present an Iranian 4-year-old girl with severe congenital neutropenia without warts and normal bone marrow examination, lacking evidence of myelokathexis. Whole Exome Sequencing (WES) was performed for the patient. Subsequently, Sanger segregation/validation was done of the patient and her parents. Whole exam sequencing identified a heterozygous stop variant mutation in CXCR4 (NM_001008540.2:c.1012C>T; p.Arg338Ter) in the patient. Two of the main clinical criteria in WHIM syndrome, including warts and myelokathexis, were not observed in our patient. So, the absence of warts is not deceptive in ruling out the disease. This case report also represents the high importance of genetic analysis as a primary tool for the accurate differential diagnosis of patients with neutropenia. https://igj.tums.ac.ir/index.php/igj/article/view/168 https://igj.tums.ac.ir/index.php/igj/article/download/168/190