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ORPHA:51636

WHIM syndrome

low confidenceDisorder

Also known as: WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome · Warts-infections-leukopenia-myelokatexis syndrome

Publications

804

Trials

30

Interventional, condition-specific

Researchers

1,243

Distinct authors in sample

Gene link

CXCR4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a 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 and invasive mucosal carcinoma).

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CXCR4

  2. LiteraturePresent

    804 matched papers (520 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    30 matched on ClinicalTrials.gov (9 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (CXCR4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

804

804 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

804 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

520 in the last 10 years · low confidence

Phrase hits: 804 · MeSH hits: 27

Open Europe PMC search

Who's working on it?

1,243

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Murphy PM29 papers · 2026

    Molecular Signaling Section, Laboratory of Molecular Immunology, and.

    Papers in Europe PMC
  2. 02
    McDermott DH28 papers · 2026

    Molecular Signaling Section, Laboratory of Molecular Immunology, and.

    Papers in Europe PMC
  3. 03
    Zmajkovicova K12 papers · 2026

    X4 Pharmaceuticals (Austria) GmbH

    Papers in Europe PMC
  4. 04
    Walter JE11 papers · 2026

    Division of Allergy & Immunology, Department of Pediatrics, Morsani College of Medicine, University of South Florida, Johns Hopkins All Children's Hospital, St Petersburg, Fla. Electronic address: jolanwalter@health.usf.edu.

    Papers in Europe PMC
  5. 05
    Balabanian K10 papers · 2026

    Université Paris Cité, Institut de Recherche Saint-Louis, INSERM U1342, Paris, France.

    Papers in Europe PMC
  6. 06
    Bachelerie F9 papers · 2026

    Inflammation Chemokines and Immunopathology, INSERM, UMR 996, Faculté de Médecine, Université Paris-Sud, Université Paris-Saclay, 92140 Clamart, France.

    Papers in Europe PMC
  7. 07
    Gao JL9 papers · 2026

    Molecular Signaling Section, Laboratory of Molecular Immunology, and.

    Papers in Europe PMC
  8. 08
    Majumdar S9 papers · 2026

    Molecular Signaling Section, Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892, USA. shamik.majumdar@nih.gov.

    Papers in Europe PMC
  9. 09
    Badolato R7 papers · 2025

    Department of Pediatrics, Institute of Molecular Medicine "Angelo Nocivelli," University of Brescia, Asst Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, Institute of Molecular Medicine "Angelo Nocivelli," University of Brescia, Asst Spedali Civili of Brescia, Brescia, Italy.

    Papers in Europe PMC
  10. 10
    Cho E7 papers · 2026

    From the Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (D.H.M., D.V., E.C., Q.L., P.M.M.), the Laboratories of Cellular Oncology (D.V.P., C.B.B.) and Pathology (S.P.), National Cancer Institute, the Department of Laboratory Medicine, Clinical Center (K.R.C.), the National Institute of Dental and Craniofacial Research (P.J.G.), and the National Institute on Deafness and Other Communication Disorders (D.A.B.), National Institutes of Health, and Kozloff and Trout MDs (H.H.T.), Bethesda, MD; the Infectious Diseases Unit and Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Pediatric University Hospital (J.F.N.), and Centro de Imunodeficiências Primárias, Academic Medical Center of Lisbon (S.L.S.), Lisbon, Portugal; and the University of Chicago Medical Center, Chicago (E.A.B., E.M.L.).

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

30

interventional trials for this specific condition

30 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

30 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.7th percentile).

low confidence · 95.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

30 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

9 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"WHIM syndrome" OR "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome" OR "Warts-infections-leukopenia-myelokatexis syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: WHIM syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"WHIM syndrome" OR "Warts-hypogammaglobulinemia-infections-myelokathexis syndrome" OR "Warts-infections-leukopenia-myelokatexis syndrome" OR "CXCR4"

Recall-expansion terms: CXCR4

Interventional trials matched via: both, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 30 interventional · 9 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: WILM

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (804) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:46:39.974Z