Safe Subcutaneous Immunoglobulin Replacement Therapy in the Treatment of X-Linked Agammaglobulinemia Patient: A Case Report
نویسندگان
چکیده
X-linked agammaglobulinemia (XLA) or Bruton’s disease is a rare inherited disorder of the immune system: XLA is a primary immunodeficiency, occurring in 1 of 190,000 male births in the United States [1,2]. XLA represents nearly 85% of agammaglobulinemia cases, and is caused by a defect in gene, located on the X chromosome, coding for Bruton’s tyrosine kinase (BTK). BTK gene mutation causes a failure in B-lymphocytes maturation, associated with a failure of Ig heavy chain rearrangement, leading to a decrease in antibody production [2]. XLA patients may present recurrent bacterial infections as well as non-infectious complications, or exhibit heterogeneous clinical phenotypes [3]. This complex clinical outline and the variable severity of symptoms entail an early correct diagnosis to properly manage patients, with appropriate treatment [4]. Symptoms appear during the first year of life, in half of patients, and, within the age of 5 years in in more than 90% of the subjects affected [5]. XLA is diagnosed in approximately 60% of individuals who develop a severe, life-threatening infection [6].
منابع مشابه
Membranoproliferative Glomerulonephritis and X-Linked Agammaglobulinemia: An Uncommon Association
Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family hist...
متن کاملTubulointerstitial nephritis complicating IVIG therapy for X-linked agammaglobulinemia
BACKGROUND Patients with X-linked agammaglobulinemia (XLA) develop immune-complex induced diseases such as nephropathy only rarely, presumably because their immunoglobulin (Ig) G concentration is low. We encountered a patient with XLA who developed tubulointerstitial nephritis during treatment with intravenous immunoglobulin (IVIG). CASE PRESENTATION A 20-year-old man was diagnosed with XLA 3...
متن کاملImmunoglobulin treatment in primary antibody deficiency.
The primary antibody deficiency syndromes are characterised by recurrent respiratory tract infections and the inability to produce effective immunoglobulin (Ig) responses. The best-known primary antibody deficiencies are common variable immunodeficiency (CVID), X-linked agammaglobulinaemia (XLA), immunoglobulin G (IgG) subclass deficiency, and selective antibody deficiency with normal immunoglo...
متن کاملX-linked Agammaglobulinemia With Normal Immunoglobulin and Near-Normal Vaccine Seroconversion.
We present a 22-month-old boy with X-linked agammaglobulinemia masked by normal immunoglobulin levels and vaccine seroconversion. Diagnosis was made after strong clinical suspicion of immune deficiency led to identification of markedly reduced B-cell numbers and confirmation with identification of a novel Bruton tyrosine kinase gene mutation. He was commenced on replacement immunoglobulin thera...
متن کاملCost-effectiveness analysis of subcutaneous immunoglobulin replacement therapy in Iranian patients with primary immunodeficiencies
Background: Economic evaluation of subcutaneous immunoglobulin therapy (SCIG) is important, and it has recently been used for treatment of patients with primary immunodeficiency (PID) diseases, and can improve allocation of resources in health care systems. The present research aimed at providing an economic assessment of SCIG and IVIG (intravenous immunoglobulin therapy) adm...
متن کامل