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2014, Number 4

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Rev Cubana Hematol Inmunol Hemoter 2014; 30 (4)

X-linked agammaglobulinemia or Bruton´s disease

Sánchez SM, Marsán SV, Macías AC, Pino BD, Socarrás FBB, del Valle PLO, Arce HAA

Language: Spanish
References: 40
Page: 395-404
PDF size: 138.04 Kb.


ABSTRACT

X-linked agammaglobulinemia (XLA) or Bruton disease is a primary immunodeficiency, which typically appears in the first months of life, when serum concentrations of maternal immunoglobulins decrease. It is characterized by recurrent infections and total absence or very low levels immunoglobulin. We report a 5-year-old boy with a history of recurrent severe infectious processes beginning at 18 months of age: shigellosis, bacterial respiratory infections, bronchopneumonia, conjunctivitis, sinusitis, meningoencephalitis three times (two of viral etiology and one of bacterial etiology), chronic suppurative otitis media, giardiasis with torpid evolution and septic skin lesions caused by Pseudomona aeruginosa and Staphylococcus aureus. During the course of infectious processes an autoimmune disease (psoriasis) was diagnosed. Immunological study showed extremely low levels of serum immunoglobulins: IgG 0.00 mg / L (370 – 1 400 mg / L), IgA 0.08 g / L (50 - 230 mg / L), and IgM 0, 07 g / L (30 - 170 mg / L) and CD19 + B cells in peripheral blood almost absent, with a value of 0.12 % (VN: 21 – 44 %). Diagnosis of X-linked agammaglobulinemia or Bruton disease was established. The patient was treated with intravenous human immunoglobulin with obvious clinical improvement.


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