Guaní-Guerra E, Lugo-Reyes SO, Reyna-Guerra JM, García CML, Terán JLM

Language: English
References: 6
Page: 123-126
PDF size: 77.73 Kb.

ABSTRACT

In this section, devoted to the discussion of case histories with an immunological interest, we now review the case of a 2-month-old male infant with recurrent opportunistic respiratory infections and fulminant BCG-osis. Although the diagnosis could not be pursued to the molecular level, his history of recurrent infections at a very young age, with a catastrophic evolution and profound CD8+ lymphopenia led us to think of ZAP-70 deficiency.

REFERENCES

1. Rudd CE. Disabled receptor signaling and new primary immunodeficiency disorders. N Engl J Med 2006;354:1874-1877.

2. Buckley RH. Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med 2000;343:1313-1324.

3. Buckley RH. Several or combined immunodeficiencies. In: Austen KF, Frank MM, Atkinson JP, Cantor H, editors. Samter’s immunological diseases. 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2001:321.

4. Sharfe N, Arpaia E, Roifman CM. CD8 lymphocytopenia caused by ZAP-70 deficiency. Immunol Allergy Clin North Am 2000;20:77-94.

5. Turul T, Tezcan I, Artac H, et ál. Clinical heterogeneity can hamper the diagnosis of patients with ZAP-70 deficiency. Eur J Pediatr 2008. (Epub ahead of print).

6. Irla M, Saade M, Kissenpfennig A, et ál. ZAP-70 restoration in mice by in vivo thymic electroporation. PLoS ONE 2008;3:e2059.