RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:51636

WHIM syndrome

low confidenceDisorder

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

Publications

84,828

Trials

3

Interventional, condition-specific

Researchers

1,243

Distinct authors in sample

Gene link

CXCR4

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CXCR4

  2. LiteraturePresent

    84,828 matched papers (51,795 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Abnormal female external genitalia morphology; Decreased circulating immunoglobulin concentration; Bronchiectasis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. mavorixafor Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov

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)

46

Associated phenotypes · MONDO:8000006

  • Abnormal female external genitalia morphology
  • Decreased circulating immunoglobulin concentration
  • Bronchiectasis
  • Abnormal bone marrow cell morphology
  • Myelokathexis

Showing 5 of 46 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

3

Designations · no FDA orphan-indication approval yet

  • EMA mavorixafor (Xolremdi)Treatment of WHIM syndrome · 25/07/2019 · PositiveEMA designation
  • EMA PlerixaforTreatment of WHIM syndrome · 16/12/2014 · PositiveEMA designation
  • EMA unknownTreatment of WHIM syndrome · 16/12/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_8000006

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

84,828

84,828 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

84,828 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

51,795 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?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

1 observational study matches 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for WHIM syndrome — check Associations / patient organisations on that page.

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") OR (MESH:"WHIM syndrome") OR ("CXCR4" OR "CXCR4 syndrome" OR "CXCR4-related" OR "WHIM" OR "WHIM-related")

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"

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

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 (84828) 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