Síndrome de Good, una causa infrecuente de diarrea crónica / Good Syndrome, a rare cause of chronic diarrhea

Chronic diarrhea is a frequent cause of consultation in daily clinical practice. There are multiple diagnostic algorithms that allow a staggered approach to the most frequent pathologies, leaving out some lesser-known ones. This article reports the case of a 66-year-old female patient with a history of arterial hypertension, dyslipidemia and resected AB thymoma and a history of chronic diarrhea of 8 weeks of evolution. The etiological study ruled out infectious causes, celiac disease and negative viral serology. Due to a history of thymoma, immunoglobulin count was performed, showing severe pan-hypogammaglobulinemia. Good's Syndrome is the combination of thymoma and hypogammaglobulinemia, where patients may present with diarrhea secondary to immunodeficiency. Hypogammaglobulinemia associated with the presence of a thymoma is a rare cause but widely described in the literature as Good's Syndrome. Therefore, it seems relevant to describe a case, its approach and subsequent management.

La diarrea crónica constituye una causa frecuente de consulta en la práctica clínica diaria. Existen múltiples algoritmos diagnósticos que permiten realizar un abordaje escalonado de las patologías más frecuentes y permiten descartar algunas menos conocidas. En el presente artículo se reporta el caso de una paciente de género femenino de 66 años, antecedentes de hipertensión arterial, dislipidemia y timoma AB resecado con historia de diarrea crónica de 8 semanas de evolución. Dentro del estudio etiológico se descartan las causas infecciosas, enfermedad celíaca y serologías virales negativas. Por antecedente de timoma, se realizó recuento de inmunoglobulinas, evidenciando una severa pan-hipogammaglobulinemia. El Síndrome de Good es la combinación de timoma e hipogammaglobulinemia, donde los pacientes podrían presentar diarreas secundarias a inmunodeficiencia. La hipogammaglobulinemia asociada a la presencia de un timoma es una causa poco frecuente pero ampliamente descrita en la literatura como Síndrome de Good. Por lo antes señalado, nos parece relevante describir un caso, su abordaje y manejo posterior.

Linfadenite recorrente. Caso clínico / Recurrent lymphadenitis. Case report

A imunodeficiência de variável comum é uma imunodeficiência primária de apresentação heterogênea, consistindo em um défice em imunoglobulinas. É caracterizada por infeções de repetição e predisposição para doenças autoimunes, granulomatosas e neoplásicas. Os autores apresentam o caso clínico de um doente com imunodeficiência comum variável manifestada por infeções cutâneas de repetição e linfadenite recorrente. Este caso tem como objetivo alertar para os aspetos clínicos desta imunodeficiência, a fim de permitir seu diagnóstico precoce, evitando-se prognósticos desfavoráveis.(AU)

Common variable immunodeficiency is a primary immunodeficiency with a heterogeneous presentation, characterized by decreased immunoglobulin levels. It is characterized by recurrent infections, predisposition to autoimmune, granulomatous and neoplastic diseases. The authors report a case of a patient with common variable immunodeficiency and history of skin infections and recurrent lymphadenitis. This case report aims to draw the attention to the clinical aspects of this immunodeficiency, in order to promote an early diagnosis, avoiding poor outcomes.(AU)

Disseminated bronchiectasis in an adult with common variable immunodeficiency / Bronquiectasias diseminada en un adulto con inmunodeficiencia común variable

Primary immunodeficiencies (PID) are traditionally considered childhood diseases; however, adults account for 35% of all patients with PID. Antibody deficiencies, especially Common Variable Immunodeficiency (CVID), which have their peak incidence in adulthood, require a high suspicion index. Even though the estimated frequency of CVID is not high (1:25,000), high rates of under diagnosis and under reporting are very likely. The delay in diagnosis increases the morbidity and mortality; therefore, adult physicians should be able to suspect, identify and initiate management of individuals with PID. Here we report the case of a 37 year-old man presenting to the emergency room with dyspnea, fever and cough; he developed respiratory failure requiring mechanical ventilation. He complained of recurring pneumonia associated with widespread bronchiectasis since he was 18 years old. Serum immunoglobulins quantification showed severe hypogammaglobulinemia (total IgG <140 mg/dL; total IgA, 2.9 mg/dL; and total IgM <5 mg/dL). Treatment with Human Intravenous Immunoglobulin (IVIG) 10% was started, and with antibiotic treatment for severe pneumonia (during 14 days) was also prescribed. His clinical evolution has been favorable after one year follow-up. Common Variable Immunodeficiency (CVID) diagnosis was made.

Las inmunodeficiencias primarias (IDP) son patologías que tradicionalmente se consideran de la niñez sin embargo los adultos representan el 35% del total de pacientes con IDP. Las deficiencias de anticuerpos, en especial la Inmunodeficiencia Común Variable (IDCV) tienen su pico de incidencia en la edad adulta, requiere un alto índice de sospecha y si bien su frecuencia estimada no es alta (1:25,000), es muy posible que el subregistro y subdiagnóstico si lo sean. El retraso en el diagnóstico aumenta la morbi-mortalidad razón por la cual los médicos de adultos deben estar en capacidad de sospechar, identificar e iniciar el manejo de las personas con IPD. Presentamos el caso de un hombre de 37 años de edad atendido en la sala de urgencias con disnea, fiebre y tos, desarrolla falla respiratoria requiriendo ventilación mecánica. Refería neumonías a repetición desde los 18 años de edad asociadas con bronquiectasias generalizadas. La cuantificación de inmunoglobulinas séricas evidenció hipogammaglobulinemia severa (IgG total <140 mg/dL, IgA total 2.9 mg/dL, IgM total <5 mg/dL), se inició inmunoglobulina humana endovenosa (IGIV) al 10%, y recibió tratamiento antibiótico por 14 dias para neumonía severa, su evolución clínica ha sido favorable hasta ahora (un año de seguimiento), se estableció el diagnostico de Inmunodeficiencia Común Variable (IDCV).

A case of IgG subclass deficiency with the initial presentation of transient hypogammaimmuno-globulinemia of infancy and a review of IgG subclass deficiencies.

Primary immunodeficiency diseases are not common in children. The possibility of an immunological defect should be considered in any individual with repeated infections. A definite diagnosis for immodeficiency is sometimes difficult to achieve because of overlapping clinical manifestations. Immunoglobulin subclass deficiency is an immunological deficiency disease with which, one or more IgG subclasses are deficient. T cell immunity is normal. Patients may develop recurrent bacterial and respiratory infections or could remain asymptomatic. OBJECTIVE: The authors report a case of immunoglobulin G subclass deficiency presenting initially as transient hypogammaglobulinemia of infancy. CASE REPORT: A 2 month-old boy presented to Siriraj Hospital with a history of chronic protracted diarrhea, disseminated scabies and sepsis. On presentation, he had generalized scaly and maculopapular rash with no palpable lymph nodes. CBC revealed WBC 22,100 cells/cm3 with PMN 42 per cent, lymphocytes 38 per cent, Eosinophils 4 per cent, Basophil 2 per cent and platelets 254,000/cm3. The immunoglobulin levels were as follows: IgG 181 mg/dl, IgA < 6.6 mg/dl, IgM 26.3 mg/dl. Lymphocyte enumerations revealed CD4 of 2,433 cells/cm3 (N 1,460-5,160); CD8 4,682 cells/cm3 (N 650-2,450); CD19 1,588 cell/cm3 (N 500-1,500); CD16 230 cell/cm3 (N 573 +/- 264). The initial diagnosis was X-linked agammaglobulinemia vs common variable immunodeficiency disease. His diarrhea and five courses of sepsis responded well to antibiotics administration and courses of intravenous immunoglobulin (IVIG) replacement. His through IgG became normal at 2 years of age (after 12 months of IVIG). IVIG was stopped and the diagnosis was changed to transient hypogammaglobulinemia of infancy (THI). Nevertheless, during his 4 month follow-up he developed recurrent sinopulmonary infections (i.e, otitis media and pneumonia). Repeated immunoglobulin profile showed IgG 1,200 mg/dl, IgA 135 mg/dl, IgM 26 mg/dl, IgG subclass were IgG, 1,030 mg/dl (N 280-830), IgG2 30 mg/dl (N 40-2,400), IgG3 22 mg/dl (N 6-130), IgG4 3 mg/dl (N 3-120). A diagnosis of IgG2 subclass deficiency presenting early as transient hypogammaglobulinemia of infancy was then made. Treatment with monthly IVIG was reinitiated and the patient is currently doing well. CONCLUSION: The authors present a case of IgG subclass deficiency presenting as transient hypogammaglbulinemia of infancy. Follow-up of the immune profile and clinical manifestation is necessary for a definite diagnosis.

A case of recurrent pneumonias.

A description is given of the case of a young boy who presented with repeated episodes of pneumonias since childhood. In addition, he had episodes of intermittent diarrhoeas. His investigative work-up revealed a deficiency of serum immunoglobulins, that is, hypogammaglobulinaemia. The profile was suggestive of common variable immunodeficiency. Because of the relative rarity of this disease, it is often missed leading to significant morbidity. Treatment consists of immunoglobulin replacement therapy and management of recurrent infections with appropriate drugs.

Imunodeficiências primárias: agamaglobulinemias: série de casos / Immunodeficiencys would excel: agamaglobulinemias: series of cases

Os autores descrevem uma série de casos de agamaglobulinemia ligada ao X e fazem uma breve revisão da literatura sobre esta desordem imunológica. Salientam os sinais e sintomas para que o pediatra generalista tenha condições de realizar um diagnóstico mais precoce que permita melhor manuseio clínico e terapêutico para os pacientes portadores desta doença

Agamaglobulinemia congênita associada a infecçöes piogênicas disseminadas / Congenital agammaglobulinemia associated with disseminated pyogenic infection

Os autores apresentam o caso de paciente portador de agamaglobulinemia congênita cuja manifestaçäo clínica principal é abscessos cutâneos disseminados. Tecem comentários sobre sua provável etiologia e comprovam o efeito benéfico do tratamento de reposiçäo com gamaglobulina para uso intravenoso.

Diarréia crônica e infecçöes repetidas em adulto / Chronic diarrhea and repeated infections in an adult

Um caso de infecçäo por Shigella flexneri em uma mulher de 34 anos de idade com hipogamaglobulinemia e diarréia é apresentado; o problema diagnóstico representado por diarréia no paciente com hipogamaglobulinemia é discutido. A revisäo de 7 outros pacientes com hipogamaglobulinemia tratados no HCRP é apresentado e é enfatizado que vários agentes patogênicos podem causar diarréia nesses pacientes