Inmunodeficiencia variable común y déficit selectivo de inmunoglobulina A en pacientes celiacos / Common variable immunodeficiency and selective IgA deficiency in celiac disease patients

La enfermedad celíaca (EC) es una de las enfermedades autoinmunes gastrointestinales que con más frecuencia se asocia a inmunodeficiencias primarias (IDP) como el déficit selectivo de IgA y la inmunodeficiencia variable común (IDVC). A propósito del vínculo entre IDP y celiaquía, se presentan dos pacientes femeninas diagnosticadas como celíacas con formas de presentación diferentes y compromiso inmunonutricional variable. Las bajas concentraciones de inmunoglobulina G (IgG) y la ausencia de IgA fueron los principales hallazgos humorales registrados, no se evidenció compromiso de células B y T, de acuerdo a la cuantificación de subpoblaciones linfoides por citometria de flujo. La intervención nutricional e inmunológica permitió la remisión de las manifestaciones clínicas y la evolución satisfactoria en ambos casos(AU)

Celiac disease (CD) is an autoimmune gastrointestinal disease very often associated with Primary Immunodeficiencies (PID) as selective IgA deficiency and variable immunodeficiency common. About the link between celiac disease IDP, two female patients diagnosed as celiac patients with different forms of presentation and varying commitment immunonutritional presented. Low levels of immunoglobulin G (IgG) and absence of immunoglobulin A (IgA) were the main humoral findings recorded, no commitment of B and T cells, according to the quantification of lymphoid subpopulations by flow cytometry. Nutritional and immunological intervention allowed remission of clinical manifestations and satisfactory outcome in both cases(AU)

Recurrent Intestinal Obstruction in a Patient with Selective IgA Deficiency

A 32 year old woman presented with acute onset of abdominal pain and fever. An urgent computerised tomography (CT) of the whole abdomen showed dilated loop at the terminal ileum in the right lower abdomen with thickening of the wall and oedema. The CT was suggestive of distal small bowel obstruction at the ileum with surrounding wall oedema. Multiple biopsies taken from the terminal ileum and colon on colonoscopy were all unremarkable. She represented oneyear later with a recurrence of intestinal obstruction. CT enteroclysis showed collapse at the distal 3 cm segment of the terminal ileum. There was no associated wall thickening, active inflammatory changes or ileitis. This was suspicious of post-inflammatory change or fibrosis. She was subsequently found to have selective IgA deficiency with recurrent infection in the terminal ileum resulting in intestinal obstruction. In conclusion, selective IgA deficiency should be considered in patients with recurrent intestinal obstruction without anatomical obstructions.

Características clínicas de pacientes con déficit selectivo de IgA en el hospital infantil municipal de Córdoba, periodo 2010-2013 / Clinical features of patients with selective Iga deficiency In municipal hospital children of Córdoba, period 2010-2013

Introducción: el déficit selectivo de IgA (DsIgA) es la inmunodeficiencia primaria más frecuente, caracterizada por nivelesséricos de inmunoglobulina A (IgA) menores a 7 mg/dl en pacientes mayores a 4 años con niveles normales de otros isotipos de inmunoglobulinas. Aunque la mayoría de los individuos sona sintomáticos, cerca de un tercio padecen infecciones recurrentes, alergia o autoinmunidad. Objetivo: Principal: determinar características clínicas asociadas al DsIgA. Secundario: analizar los valores de inmunoglobulina G (IgG) e inmunoglobulina M (IgM) de los pacientes.Materiales y métodos: Se revisaron en forma retrospectiva registros de laboratorio e historias clínicas de 24 pacientes que cumplieron con los criterios diagnósticos de DsIgA. Resultados: Se observó que 17 pacientes (71%) presentaban fenó-menos alérgicos, 13 pacientes (54%) enfermedades autoinmunes y 7 pacientes (29%) infecciones recurrentes al momento de diagnóstico del DsIgA. Además se pudo ver un aumento de IgG e IgMen un 38% y 46% de los pacientes, respectivamente. Conclusión: Observamos que la principal manifestación clínica fue la alergia, y que un grupo de pacientes tenía elevadas sus inmunoglobulinas séricas.

Introduction: selective IgA deficiency (IgAD) is considered as the most common primary immunodeficiency, is defined as a serum IgA of less than 7mg/dl, with normal serum IgG and IgM levels in patients older than 4 years with other wise normal immune system. Although the majority of affected individuals are asymptomatic, a third of patients are symptomatic and suffer from recurrent infections, allergies and autoimmune diseases. Aim: To investigate the clinical characteristics of children with IgAD and analyse the levels of IgG and IgM of the patients. Materials and methods: The clinical and laboratory information from medical records of 24 children with IgAD were studied retrospectively. Results: 17 (71%) patients had allergic disorders, 13 (54%) patients had autoimmune disorders and 7 (29%) patients had infectious diseases at the moment of the diagnosis of IgAD. Serum IgG and IgM levels were increased in 38 % and 46 % of patients, respectively. Conclusions: we found that allergic disorders were the most common clinical manifestation and group of patients had increased levels of serum immunoglobulins.

A Clinical Study of Primary Immunodeficiency Disease in a Single Center in Seoul from 1996 to 2004 / 소아알레르기및호흡기학회지

PURPOSE: Although primary immunodeficiency disorders are relatively rare, early diagnosis provides the opportunity to reduce morbidity and mortality. The aim of this study was to investigate disease distribution, clinical manifestations, genetic mutation, treatment and prognosis of primary immunodeficiency disorders of childhood. METHODS: We retrospectively reviewed the medical records of 15 cases with primary immunodeficiency disorders between 1996 and 2004 in Samsung Seoul Hospital, Seoul, Korea. RESULTS: The most common primary immunodeficiency was common variable immunodeficiency (CVID) (n=7), followed by X-linked agammaglobulinemia (XLA) (n=3), severe combined immunodeficiency (SCID) (n=2), hyper IgM syndrome (n=1), selective IgA deficiency (n=1), and chronic granulomatous disease (CGD) (n=1). Most cases had recurrent infections such as otitis media, bacterial pneumonia, sinusitis and other respiratory infections during infancy. The age at diagnosis ranged from 4 months to 17 years with a median age of 5 years. The male to female ratio was 11 to 4. Eleven patients were diagnosed with primary immunodeficiency diseases following respiratory infection, while the other 4 patients had pulmonary tuberculosis, perianal abscess, bacterial meningitis, septic arthritis. All the patients with XLA and CVID were regularly treated with IVIG. Two cases of SCID underwent successful bone marrow transplantation without complications. The patients with hyper IgM syndrome died due to severe infection even after bone marrow transplantation. CONCLUSION: Fifteen variable cases of primary immunodeficiency were diagnosed during 9 years. A high index of suspicion is required in children with recurrent or severe infections for the diagnosis of primary immunodeficiency, because early diagnosis and treatment can reduce mortality and morbidity.

The immunological and clinical manifestation of selective IgA deficiency / 中国免疫学杂志

Objective:In view of the immunological and clinical manifestation of SIgAD.Methods:Single radial immunodiffusion technique was emploied to determine serum IgG?IgA?IgM and the enzyme linked immunosorbent assay(ELISA) had been used to measure serum IgE;anti unclear antibodies(ANA) were test with indirect immunofluorescence technique,cellular immunity was test with lymphocyte translation assay.Results:Tweenty eight patients with selective IgA deficiency were seen during the last tween years(IgA