Suspect your patient could have WHIM?
ON THIS PAGE: HCP Diagnosis Resources | Patient Resources
ON THIS PAGE:
HCP Diagnosis Resources
Patient Resources
HCP Diagnosis Resources
Physician-Initiated No-Cost Genetic Testing
X4 has partnered with Invitae to offer genetic testing at no cost for qualified U.S. patients who may have a congenital neutropenic disorder or a primary immunodeficiency, including WHIM syndrome. Genetic counseling and family testing are also available.
Sign Up for Updates
Sign up for WHIM syndrome disease education resources and updates from X4 Pharmaceuticals.
You can also contact an X4 Rare Disease Specialist directly.
10 Warning Signs of WHIM Syndrome
A fact sheet covering common manifestations of WHIM syndrome, developed in collaboration with the Jeffrey Modell Foundation (JMF), a not-for-profit organization devoted to early and precise diagnosis for people with primary immunodeficiencies.
WHIM Syndrome Learning Center
In collaboration with X4, the educational medical publishing company CheckRare has developed a dedicated WHIM learning page with in-depth information and videos with expert perspectives on a range of WHIM syndrome topics, including long-term sequelae, diagnosis, testing, and management.
Published Overview of CXCR4 Variants in WHIM Syndrome
This publication summarizes the current knowledge of the evolving CXCR4 variant landscape in WHIM syndrome and provides a list of newly classified pathogenic and likely pathogenic variants to date.
Published Study of WHIM Syndrome in 66 Adult and Pediatric Patients
This publication characterizes a unique international cohort of 66 patients with WHIM syndrome, including 57 (86%) cases previously unreported, with variable clinical phenotypes. It includes an analysis of the manifestations of disease over time and the impact of delayed diagnosis on patient outcomes, including a higher incidence of permanent organ damage.
Patient Resources
X4 Nurse Educator*
Invite your patient to review and sign the consent to connect with an X4 Nurse Educator who can help patients navigate the unique challenges of living with and managing WHIM syndrome.​
* X4 Nurse Educators are employees of X4 Pharmaceuticals and do not work under the direction of a healthcare professional; they do not offer medical or treatment-related advice. For treatment and medical questions, patients should contact their healthcare provider.​
No-Cost Genetic Testing Through Probably Genetic
X4 has partnered with Probably Genetic to offer clinical-grade genetic testing at no cost to eligible patients. They can apply to receive a test through the mail to take at home using a simple cheek swab.
WHIMsyndrome.com Patient Education Website
A website for patients and caregivers to help them learn the signs and symptoms of WHIM syndrome, understand the ways it’s diagnosed and managed, and get resources to support their journey.
