ORPHA:99842
Leukocyte adhesion deficiency type I
Also known as: LAD-I
Publications
7,649
95.2th percentile
Trials
2
Interventional, condition-specific
Researchers
1,338
Distinct authors in sample
Gene link
ITGB2
Definitive
Readiness
6/6
Stages with a signal
Clinical definition (Orphanet)
A form of leukocyte adhesion deficiency (LAD) characterized by life-threatening, recurrent bacterial infections, neutrophilia, and delayed detachment of the umbilical cord.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007293
- MeSH:C535887
- OMIM:116920
- UMLS:C0398738
- NCIT:C4689
Additional Mondo synonyms (11)
ITGB2 leukocyte adhesion deficiency · LAD1 · LFA-I deficiency · LFA1 immunodeficiency · lad-I · lad-type I · leukocyte adhesion deficiency 1 · leukocyte adhesion deficiency caused by mutation in ITGB2 · leukocyte adhesion deficiency type 1 · leukocyte adhesion deficiency type I · lymphocyte function-associated antigen 1 immunodeficiency
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.
- Gene identifiedPresent
Definitive — ITGB2
- LiteraturePresent
7,649 matched papers (5,831 in last 10 years) Source
- Phenotype characterisedPresent
17 HPO annotations (e.g. Gingivitis; Poor wound healing; Periodontitis) Source
- Animal modelPresent
3 genotype models (Mus musculus) Source
- Orphan designationPartial
1 EMA designation (none yet with FDA orphan-indication approval) — e.g. Haematopoietic stem cells modified with a lentiviral vector containing the CD18 gene Source
- Interventional trialPresent
2 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 (ITGB2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
17
Associated phenotypes · MONDO:0007293
- Gingivitis
- Poor wound healing
- Periodontitis
- Recurrent mucocutaneous candidiasis
- Recurrent bacterial infections
Showing 5 of 17 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Itgb2tm2Bay/Itgb2tm2Bay [background:] involves: 129S7/SvEvBrd * C57BL/6J·MGI:2651618·Mus musculus
- Itgb2tm1Bay/Itgb2tm1Bay [background:] involves: 129S7/SvEvBrd·MGI:2651379·Mus musculus
- Itgb2tm1Bay/Itgb2tm1Bay [background:] involves: 129S7/SvEvBrd * C57BL/6J·MGI:3583131·Mus musculus
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)
1
Designation · no FDA orphan-indication approval yet
- EMA Haematopoietic stem cells modified with a lentiviral vector containing the CD18 geneTreatment of leukocyte adhesion deficiency type I · 20/09/2016 · PositiveEMA designation
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
2
Drugs / clinical candidates · MONDO_0007293
- MARNETEGRAGENE AUTOTEMCEL·phase 1 2
- USTEKINUMAB·phase 1 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
7,649
7,649 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.
7,649 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).
5,831 in the last 10 years · medium confidence · 95.2th percentile (publications denominator)
Phrase hits: 1,023 · MeSH hits: 9
Who's working on it?
1,338
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.
- 01Moutsopoulos NM7 papers · 2023
Oral Immunity and Infection Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 02Sherkat R7 papers · 2026
Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Papers in Europe PMC - 03Hajishengallis G6 papers · 2020
University of Pennsylvania, Penn Dental Medicine, Department of Microbiology, Philadelphia, PA 19104, USA. Electronic address: geoh@upenn.edu.
Papers in Europe PMC - 04Hamidieh AA6 papers · 2025
Pediatric Cell and Gene Therapy Research Center, Gene, Cell and Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: aahamidieh@tums.ac.ir.
Papers in Europe PMC - 05Pourpak Z6 papers · 2026
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 06
- 07Bakhtiar S5 papers · 2026
Division for Pediatric Stem Cell Transplantation and Immunology, University Hospital Frankfurt, Frankfurt, Germany.
Papers in Europe PMC - 08Bros M5 papers · 2023
Department of Dermatology, University Medical Center Mainz, Langenbeckstraße 1, 55131 Mainz, Germany.
Papers in Europe PMC - 09Grabbe S5 papers · 2023
Department of Dermatology, University Medical Center Mainz, Langenbeckstraße 1, 55131 Mainz, Germany.
Papers in Europe PMC - 10Madkaikar M5 papers · 2024
Department of Pediatric Immunology, ICMR National Institute of Immunohaematology, Mumbai 400012, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 10 trials are registered for leukocyte adhesion deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 28 July 2026
2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).
medium confidence · 84.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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.
Broader category: leukocyte adhesion deficiency
10
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05462587·RECRUITING·A Study to Evaluate Efficacy and Safety of AVTX-803 in Patients With Leukocyte Adhesion Deficiency Type II
Not reviewed·Conditions: Leukocyte Adhesion Deficiency·Matched via name phrase
- NCT05754450·RECRUITING·An Extension Study Assessing the Safety and Efficacy of AVTX-803 in Subjects With Leukocyte Adhesion Deficiency Type II
Not reviewed·Conditions: Leukocyte Adhesion Deficiency·Matched via name phrase
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.
Recruiting or not-yet-recruiting
- NCT00128973·RECRUITING·Evaluation of Patients With Immune Function Abnormalities
Not reviewed·Conditions: Chronic Granulomatous Disease (CGD) · X-Linked Severe Combined Immune Deficiency (XSCID) · Leukocyte Adhesion Deficiency 1 (LAD) · Graft Versus Host Disease (cGvHD)·Matched via name phrase
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 2026-07-30
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)
- ctis·2022-501086-41-00·Expired·Long-Term Follow-Up (LTFU) for Gene Therapy of Leukocyte Adhesion Deficiency-I (LAD-I).
Phase I/II clinical study to evaluate the safety and efficacy of the infusion of autologous hematopoietic stem cells transduced with a lentiviral vector encoding the ITGB2 gene
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN33578935·No longer recruiting·To study the treatment of COVID-19 with severe viral pneumonia by using purified stem cell exosomes
skipped — LLM skipped (--skip-llm)
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 Leukocyte adhesion deficiency type I — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("Leukocyte adhesion deficiency type I" OR "LAD-I" OR "ITGB2 leukocyte adhesion deficiency" OR "LFA-I deficiency" OR "LFA1 immunodeficiency" OR "lad-type I" OR "leukocyte adhesion deficiency 1" OR "leukocyte adhesion deficiency caused by mutation in ITGB2" OR "leukocyte adhesion deficiency type 1" OR "lymphocyte function-associated antigen 1 immunodeficiency") OR (MESH:"Leukocyte adhesion deficiency type 1") OR ("ITGB2" OR "ITGB2 syndrome" OR "ITGB2-related")MeSH descriptor terms unioned into the query: Leukocyte adhesion deficiency type 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Leukocyte adhesion deficiency type I" OR "LAD-I" OR "ITGB2 leukocyte adhesion deficiency" OR "LFA-I deficiency" OR "LFA1 immunodeficiency" OR "lad-type I" OR "leukocyte adhesion deficiency 1" OR "leukocyte adhesion deficiency caused by mutation in ITGB2" OR "leukocyte adhesion deficiency type 1" OR "lymphocyte function-associated antigen 1 immunodeficiency"
Interventional trials matched via: both, phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"leukocyte adhesion deficiency"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LAD1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T06:22:00.572Z