WHIM Syndrome: First Reported Case in a Patient of African Ancestry.

Background: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare, primary immunodeficiency syndrome characterized by warts, hypogammaglobulinemia, immunodeficiency, and characteristic bone marrow features of myelokathexis. The pathophysiology of WHIM syndrome is due to an autosomal dominant gain of function mutation in the CXCR4 chemokine receptor resulting in increased activity that impairs neutrophil migration from the bone marrow into the peripheral blood. This results in bone marrow distinctively crowded with mature neutrophils whose balance is shifted towards cellular senescence developing these characteristic, apoptotic nuclei termed myelokathexis. Despite the resultant severe neutropenia, the clinical syndrome is often mild and accompanied by a variety of associated abnormalities that we are just beginning to understand. Case Report. Diagnosis of WHIM syndrome is incredibly difficult due to phenotypic heterogeneity. To date, there are only about 105 documented cases in the scientific literature. Here, we describe the first case of WHIM syndrome documented in a patient of African ancestry. The patient in question was diagnosed at the age of 29 after a comprehensive work-up for incidental neutropenia discovered at a primary care appointment at our center in the United States. In hindsight, the patient had a history of recurrent infections, bronchiectasis, hearing loss, and VSD repair that could not be previously explained. Conclusions: Despite the challenge of timely diagnosis and the wide spectrum of clinical features that we are still discovering, WHIM syndrome tends to be a milder immunodeficiency that is highly manageable. As presented in this case, most patients respond well to G-CSF injections and newer treatments such as small-molecule CXCR4 antagonists.

An Integrative Review of the Role of Nurses in Fertility Preservation for Adolescents and Young Adults With Cancer.

PROBLEM IDENTIFICATION: Adolescents and young adults (AYAs) with cancer commonly report future fertility as an important issue in care. Despite long-standing guidelines on fertility counseling and the trusting relationship between nurses and patients, little is known about the nurse's role in fertility preservation (FP) for AYAs with cancer. LITERATURE SEARCH: The authors conducted a literature search of articles published through 2020 focused on nursing involvement in FP for AYAs with cancer. DATA EVALUATION: 85 studies were identified. In total, 11 articles met inclusion criteria and were critically appraised in the review. SYNTHESIS: Although well positioned to improve FP care among AYAs with cancer, nurses currently have a minimal role because of provider, institutional, and patient-related barriers. IMPLICATIONS FOR PRACTICE: Interventions to enhance nurses' knowledge about FP, improvements in electronic health record documentation, and facilitation of institutional support are needed to support the nurse's role in FP for AYAs with cancer.