Prevalence and predictive factors of splenic sequestration crisis among 423 pediatric patients with sickle cell disease in Tunisia.

This study was aimed to identify the predictors of splenic sequestration crisis (SSC) among pediatric patients with sickle cell disease (SCD). This prognosis study was carried out in the pediatric immuno-hematology unit, over 20 years (1998 to 2017), enrolling patients with SCD. The cox model was used in multivariate analysis.

Association of carotido-cavernous fistula and controlateral optic neuropathy secondary to cranial trauma.

Purpose: to report a case of a woman who had a severe cranial trauma complicated by two ophalmologic potentially cecitating complications: right carotido-cavernous fistula and left traumatic optic neuropathy.

Observation: A 56 years-old woman, without any medical history, referred, one month after fall from a height of 3 meters, for right exophthalmos. Ophthalmic examination of the right eye completed by retinal angiography suspected carotid-cavernous fistula which was confirmed by angio-MRI.

Predictors of autoimmune hemolytic anemia in beta-thalassemia patients with underlying red blood cells autoantibodies.

In beta-thalassemia patients, erythrocyte autoantibodies can remain silent or lead to Autoimmune Hemolytic Anemia (AIHA).The aim of this study was to identify predictors of AIHA in beta-thalassemia patients with positive Direct Antiglobulin Test (DAT), in Tunisia. This longitudinal prognosis study was carried out on beta-thalassemia patients with a positive confirmed DAT.

Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children.

Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children.

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.

Background: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations. Mosaicism has been reported occasionally in patients with primary immunodeficiency diseases (PIDs) since the early 1990s, but its real involvement has not been systematically addressed.

Growth and Endocrine Function in Tunisian Thalassemia Major Patients.

β-thalassemia major (β-TM) is among the most common hereditary disorders imposing high expenses on health-care system worldwide. The patient's survival is dependent on lifetime blood transfusion which leads to iron overload and its toxicity in various organs including endocrine glands. This article provides an overview of endocrine disorders in beta-TM patients.

Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome.

Autoimmune lymphoproliferative syndrome (ALPS) is a prototypic disorder of impaired apoptosis characterized by autoimmune features and lymphoproliferation. Heterozygous germline or somatic FAS mutations associated with preserved protein expression have been described. Very rare cases of homozygous germline FAS mutations causing severe autosomal recessive form of ALPS with a complete defect of Fas expression have been reported.

Myocardial and liver iron overload, assessed using T2* magnetic resonance imaging with an excel spreadsheet for post processing in Tunisian thalassemia major patients.

Thalassemia is a common genetic disorder in Tunisia. Early iron concentration assessment is a crucial and challenging issue. Most of annual deaths due to iron overload occurred in underdeveloped regions of the world.

[Effectiveness and acceptance of hydroxyurea in the treatment of severe forms of sickle cell disease: a prospective study of 65 cases].

Background: Sickle cell disease is a serious illness by its complications. For the severe forms, three therapeutic options are actually allowed: transfusion therapy, hydroxyurea and bone marrow transplantation. aim: To evaluate the contribution of hydroxyurea in the management of severe forms of sickle cell disease.

Hypocalcaemia due to hypoparathyroidism in β-thalassemia major. A study of a new case.

Aim: To report a new case of hypoparathyroidism in a child with ß-thalassemia major

Case: We report a case of a 17-year-old Tunisian girl with transfusion-dependent thalassemia major presented with paresthesia and pubertal delay. Laboratory investigations showed hypocalcaemia and hyperphosphatemia. Parathyroid hormone level was low (2 ng/l, normal range: 12-72 ng/l) than expected for the degree of hypocalcaemia.

[Immune recovery after allogeneic stem cell transplantation: study of 19 patients].

The aim of this study was to access average delays for novogeneration of myeloid and lymphoid cells after allogeneic bone marrow transplantation (BMT) outcome and factors affecting this organization. A prospective analysis over 2 years (01/01/07 to 31/12/08) enrolling 19 children treated with allogeneic intrafamilial bone marrow transplantation. Indications for bone marrow transplantation were: aplastic anemia (3 cases), bemoglobinopathies (9 cases), myelodysplastic syndrome (1 case) and primary immunodeficiency (6 cases).

Successful treatment of influenza A virus by oseltamivir in bone marrow transplant recipients.

INFVA is an important cause of pulmonary infections in patients receiving BMT, and is associated with considerable morbidity and mortality for a readily preventable and treatable infection. Few studies have addressed the impact of the new neuraminidase inhibitors in the prognosis of influenza after BMT. The aim of this study is to assess the impact of oseltamivir on the control of INFVA infection in BMT recipients.

Possible transfer of vitiligo by allogeneic bone marrow transplantation: a case report.

Among the cases yet published of development of vitiligo after BMT, only two can claim as possible adoptive transfer of such disease. We report a case of a patient with sickle cell disease in whom vitiligo developed after allogeneic BMT from his HLA identical father affected by vitiligo. We reviewed and searched for some particularities in the reported cases of post-BMT vitiligo.