Pediatrics World Conference 2026

Abstract

Background. Primary immunodeficiency disorders (PIDs) are rare disorders with heterogeneous manifestations that overlap with other conditions, such as autoimmunity, malignancy and infection. This makes diagnosis very challenging and delays management. Leukocyte adhesion deficiencies (LADs) are a group of PIDs in which leukocytes lack the adhesion molecules needed to migrate through blood vessel walls to the site of infection. Patients with LAD can present with diverse clinical features, including severe and life-threatening infections early in life and the absence of pus formation at sites of infection or inflammation. Delayed umbilical cord separation, omphalitis, delayed wound healing and a high white blood cell count are often present. If not recognized and managed early, LAD can lead to life-threatening complications and death.

Case presentation. LAD type 1 (LAD1) is caused by pathogenic variants in the integrin subunit beta 2 (ITGB2) gene. We report two cases of LAD1 with unusual presentations, excessive bleeding after circumcision and chronic inflammation of the right eye, both confirmed by flow cytometry and genetic testing. Two disease-causing ITGB2 variants were identified in each case.

Conclusions. These cases highlight the importance of a multidisciplinary approach in recognizing clues in patients with uncommon manifestations of a rare disease. Such an approach prompts an appropriate diagnostic workup for primary immunodeficiency, leading to a better understanding of the disease and appropriate patient counselling, and better equips clinicians to manage complications.