Boa evolução da forma granulomatosade Imunodeficiência Comum Variável / Good evolution of granulomatous form of the common variable immunodeficiency

Objetivo: Descrever um caso de forma granulomatosa da imunodeficiência comum variável (ICV) enfatizando a boa evolução da doença granulomatosa durante o acompanhamento em longo prazo. Descrição do caso: Paciente do gênero feminino, atualmente com 26 anos. Apresentava história de otites e amigdalites desde os seis meses e pneumonias desde os três anos de idade. Aos cinco anos foi levada a serviço especializado: apresentava-se desnutrida e com baço palpável a 9 cm e fígado a 2 cm. A investigação laboratorial iniciada nessa ocasião mostrou deficiência de IgG, IgA, IgM séricas, ausência de isohemaglutininas, linfócitos B, T, CD4+ e CD8+ normais. A biopsia hepática revelou doença granulomatosa. Foi então diagnosticada forma granulomatosa da ICV. A paciente foi submetida ao tratamento da imunodeficiência sendo indicado esteroide para a doença granulomatosa. O acompanhamento mensal da paciente durante 21 anos mostrou boa evolução, com regressão da hepatoesplenomegalia e preservação da função hepática. Discussão: A ICV é uma deficiência primária predominantemente de anticorpos, em que há pneumonias de repetição e cujo tratamento principal é a reposição de gamaglobulina. A forma granulomatosa hepática da ICV é rara, mas deve ter diagnóstico precoce, na tentativa de preservar a função hepática. No presente caso, durante os 21 anos de acompanhamento, houve boa evolução da forma granulomatosa da imunodeficiência com o uso de baixas doses de esteroides.

Objective: To describe a case of granulomatous form of common variable immunodeficiency (CVID) with good progress during a longterm monitoring. Case report: Female patient, now 26. She had a history of ear infections and tonsillitis since she was six months and pneumonia as from the age of three years. At the age of five years she was taken to a specialized service: the patient was malnourished and with 9 cms palpable spleen and 2 cms liver. Laboratory investigation initiated at that time showed deficiency of IgG, IgA, IgM serum, absence of isohemaglutininas, and normal B, T, CD4+ and CD8+ lymphocytes. The liver biopsy revealed granulomatous disease. It was then diagnosed as granulomatous CVID. The patient was submitted to immunodeficiency treatment and steroid was indicated for the granulomatous disease. The patient’s monthly monitoring during 21 years showed good outcome, with regression of hepatosplenomegaly and preservation of liver function. Discussion: CVID is predominantly a primary deficiency of antibodies, in which there is recurrent pneumonias and the main treatment recommended is the replacement of gammaglobulin. The granulomatous form of CVID is rare, nevertheless it must be diagnosed early so that the liver function can be preserved. In this 21-year-monitoring case there has been a good evolution of the granulomatous form of immunodeficiency with low doses of steroids.

Basic evaluation of the immunocompetence of Brazilian patients with Kabuki syndrome

Kabuki syndrome is a genetic disorder of unknown etiology associated with characteristic features (long palpebral fissures, everted lower lids, and arched eyebrows), mental retardation, congenital malformations and increased susceptibility to infections, cancer and autoimmune diseases. However, few studies concerning the immunological aspects of the disease have been performed, and no clear cause of immunodeficiency has been established. Methods: Basic immunological evaluation of nine Brazilian children and adolescents with Kabuki syndrome was performed. Results: Clinical findings include recurrent respiratory infections (mainly otitis media and pneumonia) in 8 patients and allergic respiratory and/ or cutaneous diseases in 5 children. Laboratory findings include selective IgA deficiency, mildly decreased total IgG levels, decreased IgG2 and lack of an adequate response to delayed skin hypersensitivity testing. All of the patients seroconverted after vaccination with heptavalent conjugate pneumococcal vaccine. In two children, clinical and cytogenetic diagnosis of Turner syndrome was also established, while one of them also presented selective IgA deficiency. Conclusion: Due to these findings, we believe that further research is needed for a better understanding of the underlying causes of immunodeficiency in Kabuki syndrome...

A síndrome de Kabuki é uma condição genética de etiologia desconhecida caracterizada por retardo mental, baixa estatura, malformações congênitas, fáscies característico (fissuras palpebrais longas, eversão das pálpebras inferiores e supercílios arqueados) e uma susceptibilidade aumentada a infecções, doenças autoimunes e neoplasias. No entanto, há poucos estudos disponíveis sobre os aspectos imunológicos desta síndrome e até o momento não se estabeleceu causa para essa imunodeficiência. Método: Foi realizada uma avaliação imunológica básica de nove crianças e adolescentes brasileiros com síndrome de Kabuki. Resultados: Os achados clínicos incluíram infecções respiratórias recorrentes (principalmente otite média e pneumonia) em 8 dos pacientes e atopia (dermatite, rinite ou asma) em 5 crianças. Dentre os achados laboratoriais, pode-se citar deficiência seletiva de IgA, níveis reduzidos de IgG, redução de IgG2 e ausência de resposta aos testes cutâneos de hipersensibilidade tardia. Todos os pacientes soroconverteram após imunização com vacina pneumocócica conjugada heptavalente. Dois dos pacientes tiveram ainda o diagnóstico clínico e citogenético de síndrome de Turner, sendo que um deles também apresentava deficiência seletiva de IgA. Conclusão: Devido a estes achados, acreditamos que mais estudos devem ser realizados para que se tenha uma melhor compreensão das causas de imunodeficiência na síndrome de Kabuki...

Ataxia-telangiectasia: a propósito de un caso / Ataxia: with regard to a case

La ataxia-telangiectasia (AT) es una enfermedad autosómica recesiva caracterizada por ataxia cerebelosa progresiva, telangiectasias oculocutáneas, infecciones sinopulmonares recurrentes, inmunodeficiencia, e hipersensibilidad a las radiaciones ionizantes, con mayor susceptibilidad al desarrollo de tumores malignos linforreticulares. Presentamos un paciente de sexo masculino de 16 años, con diagnóstico de ataxia-telangiectasia desde los 3 años de vida, con las manifestaciones clínicas y los exámenes complementarios característicos de esta entidad. Se destaca la necesidad del seguimiento de estos pacientes por un grupo interdisciplinario debido al compromiso multisistémico de esta enfermedad.

Recomendaciones para la inmunización activa de pacientes con compromiso inmunológico y/o con riesgos específicos / Recommendations for active inmunization in patients with altered immunocompetence and with specific risks

Although vaccines are powerful public health tools, are unwarrantedly denied or incompletely administered to patients with altered immunocompetence. The advisory Immunization Committee presents an updated revision, according to the local epidemiological reality, that may guide the care of these patients. Recommendations are centered in patients with congenital immunodeficiencied, HIV infected individuals, offspring of HIV infected mothers, and subjects with medical conditions that increase the susceptibility towards one or more infectious disease. In each case, the indications and contradictions of immunizations included in the Extended Immunization Program or special vaccines, recommended for special groups are analyzed. Special situations that must be considered in each risk group are also analyzed

Analysis of immunoglobulin deficiency cases: a five year study.

A total of 734 serum specimens from various clinical disorders along with 100 control samples from healthy subjects were processed for estimation of serum IgG, IgA and IgM employing single radial immunodiffusion procedure. Immunoglobulin deficiency, either selective or combined was noted in 31 males and 24 females in all age groups. Of the 55 cases encountered it was secondary immunoglobulin deficiency which was seen on a larger scale and encountered in patients with Multiple myeloma (16 out of 32) followed by Leprosy (14 out of 250), Lymphoma (5 out of 43), Malaria (4 out of 137), Burns (4 out of 52), Rheumatoid arthritis (2 out of 69) and non lymphoreticular malignancies (1 out of 41) in decreasing order of frequency. Primary immunoglobulin deficiency was observed in nine cases comprising of six belonging to Idiopathic late onset immunoglobulin deficiency, two of dysgammaglobulineamia and a solitary case of Ataxia telangiectasia. Panimmunoglobulin deficiency was observed in six cases, 11 had a dual deficiency while 38 showed deficiency of an isolated class with selective IgA deficiency in 20 cases. Furthermore, one patient each had total absence of IgG or IgA while IgM was not detectable in seven patients. A high suspicion index along with a regular rapport between the clinician and the laboratory personnel is necessary in the diagnostic set up of immunoglobulin deficiency states.

Utilidad clínica del laboratorio inmunológico / Clinical useful of the immunological laboratory

The clinical utility of the laboratory of inmunology in the diagnosis, evolution and prognosis of the different inmunological, reumathological and allergical diseases are analized

Imunodeficiencia combinada severa: descricao de caso clinico / Severe combined immunodeficiency: description of clinical case

A imunodeficiencia combinada severa e uma doenca rara, cuja heranca e autossomica recessiva ou ligada ao cromossomo X. As manifestacoes clinicas expressam um defeito na resposta antigeno especifica. Os autores apresentam a avaliacao de uma crianca portadora de SCID, que apresentava processos infeciosos recorrentes, com multiplas internacoes. Foi realizada a avaliacao imunologica e descartada a deficiencia de adenosina-deaminase. O paciente foi submetido a herniorrafia de urgencia, evoluindo para obito no setimo dia pos-operatorio. O preparo para possivel transplante de medula ossea havia sido iniciado. Os achados anatomo-patologicos mostraram alteracoes em todo sistema imunologico. E discutida a importancia do diagnostico clinico e terapeutico precoces.

Complement and immunoglobulins in septcemic newborn infants with and without meningitis

The aim of this study was to investigate possibility of quantitative deficiency in the complement components C3 and C4, and Igs G, M and A in newborn infants with meningitis. A total of 180 infants were enrolled into this study. They were allocated into 3 groups: [A] Infants with sepcemia, but had not developed meningitis [No.=68], [B] Infants with sepsis and meningitis [No.=42], and [C] Healthy control infants [No.=70]. Following sepsis work up and documentation of the type of infection, all infants had determination of serum concentration of C3, C4, IgG, M and A, with the radial immuno difusion technique. Statistical comparison of the clinical laboratory and immunological data was performed between 3 groups, the meningitis vs the septcemic groups, and also after categorizing the cases according to their gestational age

Imunodeficiencia combinada severa / Severe combined immnodeficiency

As imunodeficiencias primarias (ID) sao classificadas em ID humorais, celulares, combinadas (humorais e combinadas), de fagocitos e complemento. A Sindrome de Imunodeficiencia Combinada Severa discutida na presente monografia, e uma doenca rara com comprometimento da imunidade celular e humoral, cuja heranca e auto-somica recessiva ou ligada ao cromossomo X. Sao varios os defeitos descritos que levam a SCID: bloqueio das "stem cells", bloqueio da maturacao das celulas T e anormalidades da membrana celular. As principais manifestacoes clinicas sao os processos infecciosos recorrentes associados alteracoes cutaneas, pulmonares, de trato digestivo, com evolucao grave (meningite, sepsis). Os exames laboratoriais mostram linfopenia (20 por cento), niveis de imonuglobulinas baixos e ausencia de resposta linfoproliferativa "in vitro". A terapeutica de reposicao de imunoglobulinas esta indicada e a correcao definitiva pode ser obtida atraves do transplante de medula ossea ou terapia genica (na deficiencia de Adenosina Deaminase)

Malabsorption and immunoglobulin deficiency

Immunoglobulin deficiency may be associated with diarrhea and malabsorption. 5 cases of immunoglobulin A deficiency and 3 cases of panhypogammaglobulinemia were reported. BERNIER classified this disorder in 4 groups: - group I :[IgA deficiency with villous atrophy] :2 patients. Out come was favorable with gluten free regim. - groupe III: IgA deficiency without villous atrophy :3 patients, in one case, the out come was favorable with antibiotherapy. - group II: panhypogammaglobulinemia with villous atrophy: 2patients. One was treated with anti H[2], there were no modification in T[8] T[4] cells and no increase in immunoglobulisecretion. -group Iv: panhypogammaglobulinemia without villous atrophy: 1 patient. The physiopathology of malabsorption associated with humoral immunodeficiency is reviewed