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Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit.
Features include always present findings: Prominent fingertip pads, Short foot, Brachydactyly, and Bulbous nose and others; and very common findings: Short stature, Coarse facial features, Increased total neutrophil count, and Failure to thrive and others. 86 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 17 | Cerebral cortical atrophy, Severe intellectual disability, Anxiety |
Blood and immune system | 7 | Increased total neutrophil count, Reduction of neutrophil motility, Small red blood cells (microcytic anemia) |
Arms and legs | 6 | Prominent fingertip pads, Short foot, Small hand |
Head and neck | 5 | Coarse facial features, Microcephaly, Narrow palate |
Growth and development | 4 | Short stature, Abnormal serum insulin-like growth factor 1 level, Intrauterine growth retardation |
Muscles | 4 | Cerebral cortical atrophy, Low muscle tone (hypotonia), Brain shrinkage (cerebral atrophy) |
Lungs and breathing | 3 | Bronchiolitis, Pneumonia, Recurrent pneumonia |
Digestive system | 3 | Chronic diarrhea, Enlarged liver (hepatomegaly), Recurrent gastroenteritis |
Skin | 2 | Abnormality of the integument, Skin vesicle |
Ears | 2 | Recurrent otitis media, Conductive hearing impairment |
Hormones | 1 | Abnormal serum insulin-like growth factor 1 level |
Metabolism | 1 | Recurrent fever |
Kidneys and urinary system | 1 | Recurrent urinary tract infections |
Eyes | 1 | Keratitis |
SLC35C1 function has not been fully characterized.
Leukocyte adhesion deficiency type II is strongly associated with mutations in the SLC35C1 gene on chromosome 11.
Genetic testing for SLC35C1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 8 always present features, 8 very common features, 15 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
2 clinical trials registered. Interventions under study include drug therapy. Pipeline includes 2 PHASE3. Research is primarily industry-sponsored.
6 publications have been identified in PubMed for leukocyte adhesion deficiency type II. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).
Starosta RT (2026). [PMID: 41529427](https://pubmed.ncbi.nlm.nih.gov/41529427/). *Mol Genet Metab*. [Case Report / Case Series]
Ameen MT (2025). [PMID: 40725456](https://pubmed.ncbi.nlm.nih.gov/40725456/). *Genes (Basel)*. [Review / Meta-Analysis]
Zhang L (2025). [PMID: 38985995](https://pubmed.ncbi.nlm.nih.gov/38985995/). *Hepatology*. [Basic Science / Preclinical]
Abuzaid A (2025). [PMID: 40642621](https://pubmed.ncbi.nlm.nih.gov/40642621/). *Saudi J Anaesth*. [Case Report / Case Series]
Skurska E (2024). [PMID: 38843991](https://pubmed.ncbi.nlm.nih.gov/38843991/). *Int J Biochem Cell Biol*. [Basic Science / Preclinical]
Data assembled from 8 of 12 sources · Last updated Oct 3, 2026, 11:02 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning leukocyte adhesion deficiency type II
Updated Apr 1, 2026
FDA approves Kresladi, a one-time gene therapy for leukocyte adhesion deficiency type I (LAD-I), developed by Rocket Pharmaceuticals. This marks the first gene therapy for this rare inherited immune disorder caused by mutations in the ITGB2 gene, addressing a critical unmet need in pediatric care.
FDA approves Kresladi (marnetegragene autotemcel) as the first gene therapy for severe Leukocyte Adhesion Deficiency Type I. This landmark approval marks a significant advancement in the treatment options for this rare genetic disorder.