[Deficient expression of leukocyte adhesion proteins. A new Tunisian case].
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.
Halioui-Louhaichi
Sonia
S
Service de Pédiatrie, Hôipital Mongi Slim La Marsa.
Ben Hariz
Mongi
M
Fathallah Dahmani
Mohamed
M
Barbouch
Mohamed Ridha
MR
Mahmoudi
Jouhaïna
J
Bejaoui
Mohamed
M
Fischer
Alain
A
Dellagi
Kossay
K
Ben Ammar
Bachra
B
Maherzi
Ahmed
A
D016026:Bone Marrow Transplantation; D002648:Child; D003241:Consanguinity; D005260:Female; D006801:Humans; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D016896:Treatment Outcome; D014416:Tunisia