Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases.

Background Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases. Aim to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients. Methods A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012).

[Cystic fibrosis: A report of 33 pediatric Tunisian cases].

Background: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients.

Aim: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients.

Methods: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years (1997-2012), were reviewed.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis. We identified biallelic missense mutations in MARS in a specific form of pediatric pulmonary alveolar proteinosis (PAP), a severe lung disorder that is prevalent on the island of Réunion and the molecular basis of which is unresolved. Mutations were found in 26 individuals from Réunion and nearby islands and in two families from other countries.

[A novel mutation in infant hypophophatasia: a case report].

Background: Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified.

Aim: The authors describe a Tunisian case having a mutation that has not been described up to now.

[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.

[Pulmonary alveolar proteinosis in two siblings. A case report].

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.

[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases].

Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy.

[Acute leukoencephalitis in infant treated by high-dose corticosteroid. A case report].

The authors report a case of acute post infectious leukoencephalitis observed in a tow-years and a half children admitted to our hospital for fiver with suddent condition deterioration, obnibulation, coma and paralysis of the 6th and 7th cranial nerve. Cerebrospinal fluid study showed lymphocytosis with negative culture. Head magnetic resonance imaging demonstrated diffuse high signals over the white matter on T2 weighted images so the diagnosis was confirmed.