[Deficient expression of leukocyte adhesion proteins. A new Tunisian case]. / Le défaut d'expression des protéines d'adhésion leucocytaire. A propos d'une nouvelle observation Tunisienne.

Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins. A family history of a boy who died from omphalitis and sepsis was reported. Our patient had the severe form, she had delayed umbilical cord separation and suffered recurrent infections. She had a deletion of the G at position 1497. The patient received bone marrow transplantation from her HLA-identical mother at age of 14 months. She is now 9 years old and in good health.

[Pulmonary alveolar proteinosis in two siblings. A case report]. / La protéinose alvéolaire pulmonaire de l'enfant. A propos d'une observation familiale.

Pulmonary alveolar proteinosis (PAP) is a rare disorder in children. This report describes two siblings in whom PAP developed during infancy (three years for the boy and four years two months for the girl). The girl was admitted for chronic respiratory distress. Chest x-ray showed a reticulonodular pattern. Her brother was asymptomatic. The diagnosis of PAP was confirmed by open lung biopsy for the boy and broncho-alveolar lavage for the girl. Therapeutic broncho-alveolar lavages were performed (six for the girl and two for the boy), the girl lost dependence on oxygen therapy. 6 years later, the brother is still asymptomatic. The sister had two episodes of respiratory distress, after two and four years, that required therapeutic lavages. The last therapeutic bronch-oalveolar lavage was performed for the first time by a Tunisian team.