To date, the patient has had no further infections or cough. In May 2014, the dose was increased to 3 g every 7 days (139 mg/kg/week, 558 mg/kg/month). The dose was increased to 3 g (140 mg/kg/10 days, 420 mg/kg/month) every 10 days. Other, more recent publications were consulted suggesting that higher levels are more effective at preventing infections.

In March 2014, persistent infections (1 perianal streptococcal infection, 2 giardiasis, 1 herpes zoster, 1 otitis) were recorded. The following +10 levels were 465 mg/dL, so we returned to 2 g every 7 days (428 gr/month).įigure 1: Evolution of IgG levels and subcutaneous immunoglobulin (SCIG) along time. Infusion was changed to 2 g every 10 days (321 mg/month). An analysis on day +10 showed that levels of IgG were 869 mg/dL. The following doses were administered at home, at a rate of 2 g every 7 days (107 mg/kg/week, 428 mg/month) (Figure 1). During these three days, the parents were trained in infusion technique. The first three doses were administered in the hospital daycare facility, without premedication. An initial loading dose of 6 g (322 mg/kg) was administered over 3 consecutive days, at 2 grams daily (107 mg/kg/day). The initial goal was to keep IgG over 500 mg/dL, following recommendations. After deliberation with the parents, we decided to start on SCIG 20% (Hizentra®, 200mg/mL, CLS Behring, Marburg, Germany), by infusion pump. Laboratory tests confirmed a profoundly diminished (15%) expression. A mutation was found in the BTK gene (located in Xq22.1). The study of immunoglobulins by turbidimetry showed the following results: IgG 458 mg/dL, IgA < 33 mg/dL (verified by nephelometry: high sensitivity IgA < 6 mg/dL) and IgM < 21 mg/dL. Upon suspicion of primary immunodeficiency with concurrent infections, immune study was requested. There were no deaths at an early age in grandparents, uncles, aunts or cousins. There was no antecedents of suspected or confirmed immunodeficiency in any part of the family tree. Her sister was a 4-year-old healthy girl. In this case report, we review the case of a school-age boy with XLA, who was successfully treated with SCIG from diagnosis.Ī 6-years old male was attended in May 2012 at the Pediatric Infectious Diseases clinics for recurrent infections (diarrhea and chronic suppurative otitis media). Generally, the use of SCIG is sequential, after a loading dose IVIG. Physicians are often unfamiliar with its use, and availability is limited at many hospitals. Utilization of SCIG it is still limited in Spain. Currently, subcutaneous immunoglobulin (SCIG) is also available. Traditionally, IRT has always been performed with intravenous immunoglobulin (IVIG) every 2-4 weeks. The current management is the immunoglobulin replacement therapy (IRT). Therefore, XLA is characterized by low levels of serum immunoglobulins and almost total or total absence of B lymphocytes and plasma cells. Without mature B lymphocytes, antibody-producing plasma cells are also absent. In the absence of BTK, B lymphocytes do not differentiate or mature. X-linked agammaglobulinemia (XLA) or Bruton agammaglobulinemia, is an inherited immunodeficiency disease caused by mutations in the gene BTK, that codes for Bruton tyrosine kinase (BTK). SCIG is a valuable choice for treating XLA patients, even from the very beginning.ĭisease Bruton, X-linked agammaglobulinemia, Immunoglobulins, Immunodeficiency Parental evaluation of quality of life is good. IgG levels rose over 700 mg/dL, and infections disappeared. A new aim of IgG over 700 mg/dLwas established, after current recommendations.

Nevertheless, 15 months later, IgG levels fell below 500 mg/dL, and some infections occurred. Initially, the aim was trough serum IgG over 500 mg/dL. A loading dose of 6 g, in three consecutive days (2 g/day) was prescribed. Our aim was to describe our experience with SCIG from the diagnosis in a patient with X-linked agammaglobulinemia (XLA).Ī recently diagnosed 6-year-old child with XLA was started on SCIG. Subcutaneous immunoglobulin (SCIG) utilization is limited in Spain.

X linked agammaglobulinemia