leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type II is a congenital disorder that affects multiple systems, particularly impacting the immune system and overall development. It is caused by pathogenic variants in the SLC35C1 gene, which play a critical role in cell adhesion processes. Affected individuals typically present in early childhood with pronounced developmental challenges along with recurrent bacterial infections. The condition is very rare, affecting fewer than one in a million people.

The clinical presentation of leukocyte adhesion deficiency type II includes several characteristic features. Nearly all affected individuals display prominent fingertip pads, bulbous nasal shape, small hands, short feet, and a widow's peak, along with global developmental delay and delayed speech and language development. Many children also experience recurrent infections, failure to thrive, short stature, and coarse facial features. In addition, a significant number of individuals show cognitive impairment, compulsive behaviors, autistic traits, anxiety, cerebral atrophy, and sleep disturbances. That not all individuals experience all of these features, and severity varies considerably.

Leukocyte adhesion deficiency type II is caused by pathogenic variants in the SLC35C1 gene. While the precise molecular mechanism is not fully specified in the available data, alterations in this gene disrupt critical cellular adhesion processes that are important for normal immune function and development. The condition follows an autosomal recessive inheritance pattern, meaning an affected individual has inherited two copies of the altered gene, one from each parent. It is more common when parents share a common ancestor, which increases the likelihood that both carry the same rare genetic variant. Families are encouraged to seek genetic counseling to better understand these implications and inform future family planning.

Currently, management of leukocyte adhesion deficiency type II focuses on supportive care and symptom management. Because there are no FDA-approved treatments for this condition, therapy is tailored to the individual and typically involves a multidisciplinary team to address medical, developmental, and nutritional needs. Regular surveillance is an essential part of long-term care, helping to detect complications early and ensure that interventions are provided in a timely manner. Genetic counseling is recommended to help families understand the condition, inheritance implications, and to support decision-making regarding family planning. Patients should discuss treatment options with their healthcare team to determine which supportive strategies may be appropriate for their specific situation.

Leukocyte adhesion deficiency type II is a lifelong condition, and outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. Many individuals face significant challenges due to recurrent infections, growth delay, and cognitive impairment, yet modern supportive care has improved quality of life and overall outcomes. Outcomes described in medical literature continue to evolve as standards of care improve, and severity and symptoms vary widely between individuals. Families often find it helpful to connect with specialists familiar with this condition and consider genetic counseling for further guidance on managing the disease and planning for the future.

There are several clinical trials currently investigating new treatment approaches for leukocyte adhesion deficiency type II. Individuals interested in exploring clinical trial options are encouraged to search ClinicalTrials.gov or consult their care team about eligibility criteria and emerging therapies.