Deficient Cell Immunity and Mild Intermittent Hyperaminoacidemia in a Patient With the Rubinstein‐taybi Syndrome

Abstract

A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.

Rubinstein–Taybi syndrome: An immune deficiency as a cause for recurrent infections

“…In this same patient, there were decreased T-cell numbers using rosette formation, delayed hypersensitivity to multiple antigens, and normal serum immunoglobulins. 2 Another group showed decreased thymic tissue at autopsy in one patient with RTS. Preautopsy showed that peripheral blood T cells were normal.…”

“…Three previous case reports suggested immunodeficits, but because of their differing immunologic evaluation methods these studies were difficult to compare. 2,3 One study suggested an antibody response deficit that was amenable to i.v. ␥-globulin infusions.…”

Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome

“…The natural course of the disease shows that morbidity is mainly determined by recurrent respiratory infections that were initially attributed to microaspirations consequent to gastroesophageal reflux disease (1,5). However, some investigators have suspected the existence of primary immunodeficiency affected by RTS (10,11).…”

“…Therefore, the authors conducted an immunological screening, which revealed normal levels of serum IgG and IgA antibodies, high IgM levels, normal anti-tetanus IgG levels, normal absolute values of total leukocytes in peripheral blood, and of lymphocytes, neutrophils, basophils, eosinophils and monocytes, as well as normal percentages of T CD4 + and T CD8 + cells (13). However, despite the high susceptibility of RTS patients to recurrent infections, there have been few reports about the evaluation of their immunocompetence (10,11).…”

Investigação genético-clínica em pacientes com síndrome de Rubinstein-Taybi

“…A história natural da doença (Stevens et al, 1990) . Em poucos estudos da literatura (Rivas et al, 1980;Villella et al, 2000), os autores se preocuparam com a possibilidade da coexistência de imunodeficiências em pacientes com SRT. Rivas et al (1980) …”