Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione Perché registrarsi? Contatti

Problemi speciali

La linfopenia nel bambino

Lymphopoenia in children

Camilla Dallavilla, Raffaele Badolato

Clinica Pediatrica, Università di Brescia

Aprile 2015 - pagg. 239 -246

Abstract
Isolated lymphopoenia is a common finding in children evaluation. Usually, lymphopoenia is observed in children with infectious or autoimmune diseases, with nutritional disorders or under treatment with immunosuppressive drugs. However, persistence of low lymphocyte counts, especially when associated with invasive or opportunistic infections, eczema, diarrhoea, failure to thrive, lymphadenopathy or splenomegaly, should lead to suspect lymphopoenia as manifestation of primary immunodeficiencies. In this context, patients with lymphopoenia should be evaluated by analysis of serum immunoglobulins, lymphocyte subpopulations and genetic studies. Secondary lymphopoenia is usually responsive to the treatment of the primary disease, while idiopathic lymphopoenia will require close clinical and laboratory monitoring and anti-microbial prophylaxis. Genetic diagnosis is important to evaluate the clinical prognosis and develop specific treatment that might include in selected case haematopoietic stem cell transplantation, or substitutive enzyme therapy.
Contenuto riservato

Per leggere l'articolo completo è necessario effettuare il login.

Non sei ancora registrato? Registrati

Bibliografia
di riferimento • Ahmad DS, Esmadi M, Steinmann WC. Idiopathic CD4 Lymphocytopenia: Spectrum of opportunistic infections, malignancies, and autoimmune diseases. Avicenna J Med 2013; 3:37-47. • Al-Herz W, Bousfiha A, CasanovaJ-L, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014;5:162. • Ban SA, Salzer E, Eibl MM, et al. Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3. J Clin Immunol 2014;34(8):941-53. • Berezné A, Bono W, Guillevin L, Mouthon L. Diagnosis of lymphocytopenia. Presse Med 2006;35(5 Pt 2):895-902. • Bonilla FA, Bernstein IL, Khan DA, et al.; American Academy of Allergy, Asthma and Immunology; American College of Allergy, Asthma and Immunology; Joint Council of Allergy, Asthma and Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005;94(5 Suppl 1):S1-63. • Brass D, McKay P, Scott F. Investigating an incidental finding of lymphopenia. BMJ 2014; 348:g1721. • Centers for Disease Control (CDC). Unexplained CD4+ T-lymphocyte depletion in persons without evident HIV infection-United States. MMWR Morb Mortal Wkly Rep 1992; 41(30):541-5. • Centers for Disease Control and Prevention. Basic information about HIV and AIDS. 2012. • Comans-Bitter WM, de Groot R, van den Beemd R, et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr 1997;130(3):388-93. • Crank MC, Grossman JK, Moir S, et al. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol 2014;34 (3):272-6. • Crequer A, Picard C, Patin E, et al. Inherited MST1 deficiency underlies susceptibility to EV-HPV infections. PLoS One 2012;7(8): e44010. • Crequer A, Troeger A, Patin E, et al. Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections. J Clin Invest 2012;122(9):3239-47. • Gorska MM, Alam R. A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia. Blood 2012;119:1399-406. • Hubert P, Bergeron F, Ferreira V, et al. Defective p56Lck activity in T cells from an adult patient with idiopathic CD4+ lymphocytopenia. Int Immunol 2000;12(4):449-57. • Koretzky GA, Myung PS. Positive and negative regulation of T-cell activation by adaptor proteins. Nat Rev Immunol 2001;1(2):95- 107. • Kuijpers TW, Ijspeert H, van Leeuwen EM, et al. Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations. Blood 2011; 117(22):5892-6. • Li FY, Chaigne-Delalande B, Kannellopoulou C, et al. Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. Nature 2011;475:471-6. • Locke BA, Dasu T, Verbsky JW. Laboratory diagnosis of primary immunodeficiencies. Clin Rev Allergy Immunol 2014;46(2):154-68. • Luo L, Li T. Idiopathic CD4 lymphocytopenia and opportunistic infection - an update. FEMS Immunol Med Microbiol 2008;54(3):283-9. • McCann LJ, McPartland J, Barge D, et al. Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature. J Clin Immunol 2014;34 (1):42-8. • Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol 2010;125(2 Suppl 2):S182-94. • Tassinari P, Deibis L, Bianco N, Echeverría de Pérez G. Lymphocyte subset diversity in idiopathic CD4+ T lymphocytopenia. Clin Diagn Lab Immunol 1996;3(5):611-3. • Wu N, Veillette A. Immunology: Magnesium in a signalling role. Nature 2011;475(7357): 462-3. • Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers 2010;29(3-4):131-9. • Zhang Y, Yu X, Ichikawa M, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol 2014;133(5):1400-9.

Corrispondenza: raffaele.badolato@unibs.i