Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Jacobsen Distal 11q Deletion Syndrome

Hemic and Lymphatic Diseases Hematologic Diseases Blood Platelet Disorders Thrombocytopenia Jacobsen Distal 11q Deletion Syndrome

2 articoli — 2023-2026

RI Casi indimenticabili
Un’artralgia che co... vava qualcosa

Stella A, Iacono A, Magno C, Fichera F, Schilleci A, Cassata N.

2026/6 — pag. 388-390 — DOI

This unforgettable case describes a 4-year-old girl with Jacobsen syndrome and a history of highly selective eating (no fresh fruit or vegetables) who presented with anaemia, arthralgia and sudden refusal to bear weight after a minor knee injury. Phy...

RI Problemi speciali
Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio

Guerra F, Saettini F, Biondi A.

2023/9 — pag. 569-574 — DOI

Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical probl...

Argomenti correlati
Anemia (83) Immunologic Deficiency Syndromes (50) Arthralgia (27) Immunity, Innate (25) Hypogammaglobulinemia (24) Ipogammaglobulinemia (21) Agammaglobulinemia (20) anaemia (16) Scurvy (13) Ascorbic Acid Deficiency (11) Feeding and Eating Disorders of Childhood (10) vitamin C deficiency (10) scorbuto (9) carenza di vitamina C (9) Lymphopenia (9) artralgia (8) Inborn errors of immunity (7) selective eating (6) Errori congeniti dell'immunità (5) alimentazione selettiva (4)