RESUMEN
BACKGROUND: Common variable immunodeficiency (CVID) is characterized by infections and hypogammaglobulinemia. Neutropenia is rare during CVID. METHODS: The French DEFI study enrolled patients with primary hypogammaglobulinemia. Patients with CVID and neutropenia were retrospectively analyzed. RESULTS: Among 473 patients with CVID, 16 patients displayed neutropenia (lowest count [0-1400]*106/L). Sex ratio (M/F) was 10/6. Five patients died during the follow-up (11 years) with an increased percentage of deaths compared to the whole DEFI group (31.3 vs 3.4%, P < 0.05). Neutropenia was diagnosed for 10 patients before 22 years old. The most frequent symptoms, except infections, were autoimmune cytopenia, i.e., thrombopenia or anemia (11/16). Ten patients were affected with lymphoproliferative diseases. Two patients were in the infection only group and the others belonged to one or several other CVID groups. The median level of IgG was 2.6 g/L [0.35-4.4]. Most patients presented increased numbers of CD21low CD38low B cell, as already described in CVID autoimmune cytopenia group. Neutropenia was considered autoimmune in 11 cases. NGS for 52 genes of interest was performed on 8 patients. No deleterious mutations were found in LRBA, CTLA4, and PIK3. More than one potentially damaging variant in other genes associated with CVID were present in most patients arguing for a multigene process. CONCLUSION: Neutropenia is generally associated with another cytopenia and presumably of autoimmune origin during CVID. In the DEFI study, neutropenia is coupled with more severe clinical outcomes. It appears as an "alarm bell" considering patients' presentation and the high rate of deaths. Whole exome sequencing diagnosis should improve management.
Asunto(s)
Inmunodeficiencia Variable Común/epidemiología , Neutropenia/epidemiología , Adolescente , Adulto , Niño , Preescolar , Inmunodeficiencia Variable Común/sangre , Inmunodeficiencia Variable Común/genética , Inmunodeficiencia Variable Común/inmunología , Comorbilidad , Femenino , Francia/epidemiología , Humanos , Inmunoglobulinas/sangre , Lactante , Recién Nacido , Recuento de Leucocitos , Masculino , Persona de Mediana Edad , Neutropenia/sangre , Neutropenia/genética , Neutropenia/inmunología , Secuenciación del Exoma , Adulto JovenRESUMEN
Evans syndrome (ES) is a rare disease characterized by the simultaneous or sequential development of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP) and/or immune neutropenia. To better describe the characteristics and outcome of ES in adults, a survey was initiated in 2005. The data from 68 patients (60% of them women) fulfilling strict inclusion criteria for ES are reported. The mean age at time of ITP and/or AIHA onset was 52 plus or minus 33 years, both cytopenias occurred simultaneously in 37 cases (54.5%). ES was considered as "primary" in 34 patients (50%) but was associated with an underlying disorder in half of the cases, including mainly systemic lupus, lymphoproliferative disorders, and common variable immunodeficiency. All patients were given corticosteroids, but 50 of them (73%) required at least one "second-line" treatment, including splenectomy(n = 19) and rituximab (n = 11). At time of analysis, after a mean follow-up of 4.8 years, only 22 patients (32%) were in remission off treatment; 16 (24%) had died. In elderly patients, the risk of cardiovascular manifestations related to AIHA seems to be higher than the ITP-related risk of severe bleeding. In conclusion, ES is a potentially life-threatening condition that may be associated with other underlying autoimmune or lymphoproliferative disorders.
Asunto(s)
Anemia Hemolítica Autoinmune/mortalidad , Anemia Hemolítica Autoinmune/terapia , Neutropenia/mortalidad , Neutropenia/terapia , Púrpura Trombocitopénica Idiopática/mortalidad , Púrpura Trombocitopénica Idiopática/terapia , Corticoesteroides/administración & dosificación , Factores de Edad , Edad de Inicio , Anciano , Anciano de 80 o más Años , Anemia Hemolítica Autoinmune/diagnóstico , Anemia Hemolítica Autoinmune/etiología , Anticuerpos Monoclonales/administración & dosificación , Anticuerpos Monoclonales de Origen Murino , Antineoplásicos/administración & dosificación , Recolección de Datos , Supervivencia sin Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/mortalidad , Lupus Eritematoso Sistémico/terapia , Trastornos Linfoproliferativos/complicaciones , Trastornos Linfoproliferativos/diagnóstico , Trastornos Linfoproliferativos/mortalidad , Trastornos Linfoproliferativos/terapia , Masculino , Persona de Mediana Edad , Neutropenia/diagnóstico , Neutropenia/etiología , Neutropenia/patología , Púrpura Trombocitopénica Idiopática/diagnóstico , Púrpura Trombocitopénica Idiopática/etiología , Inducción de Remisión , Estudios Retrospectivos , Factores de Riesgo , Rituximab , Esplenectomía/métodos , Tasa de Supervivencia , SíndromeRESUMEN
INTRODUCTION: Propionibacterium acnes is a gram-positive pleomorphic rod-shaped anaerobic saprophyte of the skin, mouth and upper respiratory tract. Although associated with acne vulgaris, it is otherwise reported as a human pathogen only rarely, in various infections, notably cutaneous and osteoarticular, and in endocarditis. We report here a case of bilateral P. acnes-abscessed adenitis of the inguinal folds. CASE: A 32 year-old man presented with inguinal lymph nodes that had progressively and bilaterally reddened and become painful, with fistulation of the skin and pus. Culture of a surgical sample identified P. acnes. DISCUSSION: Although this strain has been associated with lymph node granuloma, especially in sarcoidosis, abscessed lymph node infection as seen in our patient has never been reported.
Asunto(s)
Infecciones por Bacterias Grampositivas , Linfadenitis/microbiología , Propionibacterium acnes , Adulto , Infecciones por Bacterias Grampositivas/diagnóstico , Infecciones por Bacterias Grampositivas/microbiología , Ingle , Humanos , Ganglios Linfáticos/microbiología , Masculino , Propionibacterium acnes/aislamiento & purificaciónRESUMEN
Diagnosis of tuberculoma is difficult because of its tumorlike aspects. This report describes the case of a male who displayed a hemiplegia revealing an intracranial mass. Neuroimaging was consistent with a glioblastoma; however, the definite diagnosis was a tuberculoma. Clinical features of tuberculomas are nonspecific. Even though the neuroimaging features are sensitive, they are much less specific, with variability related to the tuberculoma course. Investigations leading to the diagnosis are histologic analysis showing a granuloma with or without caseating necrosis, and the microbiologic identification of Mycobacterium tuberculosis. Every intracranial tumor with malignant radiologic and clinical appearance must evoke a suspicion for tuberculoma.
Asunto(s)
Seudotumor Cerebral/diagnóstico , Tuberculoma Intracraneal/diagnóstico , Neoplasias Encefálicas/diagnóstico , Diagnóstico Diferencial , Glioblastoma/diagnóstico , Humanos , Masculino , Persona de Mediana Edad , Seudotumor Cerebral/etiologíaRESUMEN
To describe the main characteristics and outcome of autoimmune thrombocytopenic purpura (AITP) in patients with common variable immunodeficiency (CVID), we analyzed data from 21 patients and reviewed additional cases from the literature. To be included in this study, patients had to have CVID and a previous history of AITP with a platelet count < or = 50 x 10(9)/L at onset. A complete response to treatment was defined by a platelet count > or = 150 x 10(9)/L, and a partial response by a platelet count >>50 x 10(9)/L with an increase of at least twofold the initial level. The median platelet count at AITP diagnosis was 20 x 10(9)/L (range, 2-50 x 10(9)/L). The median age at AITP diagnosis was 23 years (range, 1-51 yr), whereas the median age at CVID diagnosis was 27 years (range, 10-74 yr). CVID was diagnosed before the onset of AITP in only 4 patients (19%), 3 of whom were being treated with intravenous immunoglobulin (i.v.Ig) replacement therapy. CVID was diagnosed more than 6 months after AITP in 13 cases (62%), and the 2 conditions were diagnosed concomitantly in 4 cases. Eleven patients (52%) had at least 1 autoimmune manifestation other than AITP, among which autoimmune hemolytic anemia (7 cases) and autoimmune neutropenia (5 cases) were preeminent. Seventeen of the 21 patients (80%) received at least 1 treatment for AITP; 13 patients received corticosteroids alone and 7 (54%) achieved at least a partial response; 8 patients received i.v.Ig at 1-2 g/kg alone or in combination with steroids, leading to a short-term response rate of 50%. Four patients underwent a splenectomy (2 complete responses, 2 failures); 2 additional splenectomies were performed for associated autoimmune hemolytic anemia. With a mean follow-up of 5.6 years after the surgical procedure, none of the 6 splenectomized patients had a life-threatening infection. With a median follow-up after AITP onset of 12 years, 13/21 patients (62%) were in treatment-free remission (7 complete responses, 6 partial responses), 7 patients (23%) were in remission while on prednisone < or = 20 mg/day with or without azathioprine, and only 1 patient still had a platelet count <50 x 10(9)/L. Five patients had died at the time of the analysis; none of the deaths was related to a hemorrhage. Severe infections including 3 fatal bacterial infections and 2 opportunistic infections occurred in 6 patients during or after treatment of AITP. In conclusion, AITP, alone or in combination with autoimmune hemolytic anemia (Evans syndrome) and/or autoimmune neutropenia, is frequent in patients with CVID, and is not prevented by i.v.Ig substitutive therapy. Since AITP frequently precedes the diagnosis of CVID, testing for immunoglobulin levels should be performed in every patient diagnosed with AITP. Steroids and splenectomy seem to have the same efficacy as in idiopathic AITP, but the increased risk of severe infections must be taken into consideration.