Publications by authors named "Mohamed Hbibi"

Article Synopsis
  • Hyper-IgE syndrome (HIES) is an inherited immune disorder marked by high IgE levels, chronic eczema, and recurrent staphylococcal infections.
  • This study examined Moroccan patients likely suffering from HIES, focusing on their clinical and immunological features based on specific NIH criteria over a 25-year period.
  • Findings revealed a wide range of symptoms, with eczema and skin infections being the most common, emphasizing the need for molecular analysis for accurate diagnosis and treatment in light of overlapping symptoms.
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Autoimmune cytopenias are defined by autoantibodies' immune destruction of one or more blood elements. Most often it is autoimmune hemolytic anemia or immune thrombocytopenia or both that define Evans syndrome. It may be secondary to infection or to underlying pathology such as systemic autoimmune disease or primary immunodeficiency, especially when it becomes chronic over several years.

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Article Synopsis
  • * Six patients from five families with heterozygous RELA mutations showed additional autoimmune and autoinflammatory symptoms, all linked to mutations creating a premature stop codon in the RELA gene.
  • * The patients' cells express truncated RelA proteins that negatively affect normal function, leading to increased production of type I/III interferons and an associated novel condition characterized by excessive IFN production and immune dysregulation.
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Central pontine myelinolysis is a demyelinating disorder mainly affecting the central pons. In some cases, it is associated with extrapontine myelinolysis. It is usually caused by rapid correction of hyponatremia and osmotic shock.

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Article Synopsis
  • Genetic testing is crucial for diagnosing inborn errors of immunity (IEI), but high costs and advanced tech limit accessibility, especially in low-income countries like Morocco.
  • A study analyzed 742 patients over 12 years, finding that 29% received genetic diagnoses, with 55 defects identified, including 7 new ones.
  • Collaborative thesis projects were key to achieving these results, highlighting progress in genetic diagnosis and offering a foundation for better patient care in Morocco.
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We report the case of a 2.5-year-old child admitted for abdominal distension, whose imaging revealed a large posterior mediastinal cystic mass, with a tissue component, a calcification, and a minimal fat component. The ultrasound- guided biopsy led to the diagnosis of a benign extragonadal germ cell tumor, also called mature teratoma or dermoid cyst, whose mediastinal localization is rare, often localized in the anterior mediastinum, and rarely in the posterior mediastinum.

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Primary intracranial germ cell tumors are rare, often affecting children and young patients. Germinomas are the most common type of germ cell tumors. We present the case of a 10-year-old child, who was admitted with decreased visual acuity, asthenia, polyuro-polydipsic syndrome, and gait disorder.

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Severe combined immunodeficiency (SCID) is a heterogeneous group of primary immunodeficiency diseases (PIDs) characterized by a lack of autologous T lymphocytes. This severe PID is rare, but has a higher prevalence in populations with high rates of consanguinity. The epidemiological, clinical, and immunological features of SCIDs in Moroccan patients have never been reported.

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Macrophage activation syndrome (MAS) is a multisystemic disorder resulting from an over-activation of the immune system leading to a more or less diffuse macrophagic infiltration into the tussues. Clinical signs including fever, hepatosplenomegaly, adenopathy are associated with abnormal values in laboratory test results (bi or pancytopenia, hepatic cytolysis, elevated LDH levels, coagulopathy) and hemophagocytosis. In children, it can be primary or secondary to several disorders.

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Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema). Autosomal dominant, autosomal recessive and x-linked recessive patterns have been described in the inherited forms. Acquired forms of this disease have been associated with a previous inflammatory skin disorder (urticaria…).

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Hemophagocytic lymphohistiocytosis (HLH) is a severe life-threatening disorder, responsible for extensive phagocytosis of hematopoietic cells and causing a multisystem organ failure. If lymphomas are common causes of HLH, the association with Hodgkin's lymphoma is rarely described in children. We report a case of a 9-year-old boy presenting with HLH as an initial manifestation of Hodgkin's lymphoma.

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Congenital lobar emphysema (CLE) is a rare cause of respiratory distress during the neonate period. It is characterized by overinflation of pulmonary lobe, most commonly the left upper lobe or the right middle lobe. We report a case of a 21-day-old baby with the severe respiratory distress.

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