WHIM syndrome 1

MONDO:8000006

A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

Also known as: WHIM syndrome, WHIM Syndrome, WHIMS, WILM, Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome, Warts-hypogammaglobulinemia-infections-myelokathexis syndrome, Warts-infections-leukopenia-myelokatexis syndrome, myelokathexis, isolated

4 clinical trials for this condition and its sub-types, 4 tagged with WHIM syndrome 1 itself.

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Where it sits in the disease tree

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Part of

↑ Constitutional neutropenia (28) ↑ WHIM syndrome (4)

Including sub-types (4) Tagged with WHIM syndrome 1 (4)

Not yet finished but already full! 1 Completed 3

Rewriting the code: a One-Time gene fix for a rare immune disease?

Cure By invitation only

This trial tests a one-time gene therapy for WHIM syndrome, a rare inherited immune disorder that causes severe infections. Doctors collect a person's own blood stem cells, use base editing to correct the faulty CXCR4 gene, and return the edited cells to the body. The goal is to …

Phase 1/2 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Cure

Last updated Sep 20, 2026 00:00 UTC

WHIM syndrome 1

Where it sits in the disease tree

Rewriting the code: a One-Time gene fix for a rare immune disease?