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Primary Adrenal Lymphoma Possibly Associated With Epstein-Barr Virus Reactivation Due to Immunosuppression Under Methotrexate Therapy.

August 8, 2015 By Manish Butte

Primary Adrenal Lymphoma Possibly Associated With Epstein-Barr Virus Reactivation Due to Immunosuppression Under Methotrexate Therapy.

Medicine (Baltimore). 2015 Aug;94(31):e1270

Authors: Ohkura Y, Shindoh J, Haruta S, Kaji D, Ota Y, Fujii T, Hashimoto M, Watanabe G, Matsuda M

Abstract
Primary adrenal lymphoproliferative disorder (LPD) is an extremely rare disease that is widely known to be associated with methotrexate (MTX) use in patients with rheumatoid arthritis (RA).A 70-year-old man was incidentally found to have a tumor at the dorsal part of the liver in a medical check-up. He had a history of RA treated with MTX. Abdominal ultrasonography demonstrated a low echoic mass (30 mm in diameter) at the dorsal part of the liver, located close to the inferior vena cava. Preoperative differential diagnoses included intrahepatic cholangiocarcinoma, adrenal tumor, and hepatic malignant lymphoma, but no definitive diagnosis was reached. On exploratory laparotomy, the tumor seemed to be derived from the right adrenal gland and adhered tightly to segment 7 of the liver. Therefore, right adrenectomy with partial resection of segment 7 of the liver was performed. Pathological findings revealed diffuse inflammatory cell infiltration with a population of small atypical lymphoid cells, with positive immunohistochemical evidence for Epstein-Barr virus (EBV). Final diagnosis was primary adrenal iatrogenic EBV-positive LPD, classified as “other iatrogenic immunodeficiency-associated LPDs: Hodgkin-like lesions.”In this report, we described the possibility of the spontaneous healing of MTX-associated LPD (MTX-LPD) before treatment and the importance of doubting MTX-LPD and doing immunostaining to necrotic tissue. To our knowledge, this is the first reported case of MTX-related EBV-positive LPD, Hodgkin-like lesion, of the unilateral adrenal gland in patient with RA.

PMID: 26252293 [PubMed – as supplied by publisher]

Wiskott-Aldrich Syndrome: Description of a New Gene Mutation With Normal Platelet Volume.

August 5, 2015 By Manish Butte

Wiskott-Aldrich Syndrome: Description of a New Gene Mutation With Normal Platelet Volume.

J Pediatr Hematol Oncol. 2015 Aug 1;

Authors: Yoonessi L, Randhawa I, Nussbaum E, Saharti S, Do P, Chin T, Zwerdling T

Abstract
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by an increased incidence of autoimmunity, malignancy, microthrombocytes with thrombocytopenia, eczema, and recurrent infections. In this case report, we present a novel mutation, hemizygous for c.1125_1129delTGGAC mutation in the WAS gene, and a unique clinical presentation. Our patient was initially diagnosed with a milk protein allergy after presenting with a lower gastrointestinal bleed, leukopenia, and thrombocytopenia with normal platelet volume. However, signs of vasculitis and detection of microthrombocytes required additional testing and consideration of WAS. This case report illustrates the importance of retaining a high index of clinical suspicion despite normal platelet volume, as well as adding to the growing number of known mutations associated with WAS.

PMID: 26241726 [PubMed – as supplied by publisher]

[Primary immunodeficiency association with systemic lupus erythematosus: review of literature and lessons learned by the Rheumatology Division of a tertiary University Hospital at São Paulo].

August 5, 2015 By Manish Butte

[Primary immunodeficiency association with systemic lupus erythematosus: review of literature and lessons learned by the Rheumatology Division of a tertiary University Hospital at São Paulo].

Rev Bras Reumatol. 2015 Jul 16;

Authors: Errante PR, Perazzio SF, Frazão JB, Silva NP, Andrade LE

Abstract
Primary immunodeficiency disorders (PID) represent a heterogeneous group of diseases resulting from inherited defects in the development, maturation and normal function of immune cells; thus, make individuals susceptible to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (AIDs), in special systemic lupus erythematosus (SLE) which arose associated to the course of PID, are described. Classically, the literature describes three groups of PID associated with SLE: (1) deficiency of Complement pathway components, (2) defects in immunoglobulin synthesis, and (3) chronic granulomatous disease (CGD). Currently, other PID have been described with clinical manifestation of SLE, such as Wiskott-Aldrich syndrome (WAS), autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), autoimmune lymphoproliferative syndrome (ALPS) and idiopathic CD4(+) lymphocytopenia. Also we present findings from an adult cohort from the outpatient clinic of the Rheumatology Division of Universidade Federal de São Paulo. The PID manifestations found by our study group were considered mild in terms of severity of infections and mortality in early life. Thus, it is possible that some immunodeficiency states are compatible with survival regarding infectious susceptibility; however these states might represent a strong predisposing factor for the development of immune disorders like those observed in SLE.

PMID: 26239603 [PubMed – as supplied by publisher]

[Radiographic changes in children with primary immunodeficiency].

August 5, 2015 By Manish Butte

[Radiographic changes in children with primary immunodeficiency].

Rev Alerg Mex. 2015 Jul-Sep;62(3):211-218

Authors: González-Uribe V, Pietropaolo-Cienfuegos DR, Del Río-Navarro BE, Del Río-Chivardi JM, Sienra-Monge JJ

Abstract
BACKGROUND: Although we have epidemiological information on primary immunodeficiencies (PID), the available information is meager in Mexico.
OBJECTIVE: To provide epidemiological information on the delay in the diagnosis of PID and its correlation to chronic lung damage.
MATERIAL AND METHOD: A retrospective, analytical study was done in patients 0-18 year old age diagnosed with PID for 11 years at the HIMFG (Hospital Infantil de Mexico Federico Gomez). The variables studied were: age at symptom onset, age at diagnosis, time from onset of symptoms to diagnosis, number of previous pneumonias and studies with radiographic chronic lung damage data.
RESULTS: 48 patients were obtained after meeting inclusion criteria; 33 showed lung damage at diagnosis, antibody deficiency being the most affected group. Relating age of onset of symptoms and the time difference of the onset of symptoms to diagnosis showed a strong correlation (p < 0.001, Rho > 0.80). A moderate correlation between the observed time difference vs number of pneumonias (p=0.005, Rho=0.495) and correlation between number of pneumonia and lung damage was highly significant (p <0.001, Rho=0.704).
CONCLUSION: A strong relationship between the elapsed time from onset of symptoms and the number of pneumonia with lung injury time was found. So, the recurrent pneumonia (> 2) must make suspect the diagnosis of PID, as recommended in the literature.

PMID: 26239331 [PubMed – as supplied by publisher]

[EFFICIENCY OF COMBINATION OF ROFLUMILAST AND QUERCETIN FOR CORRECTION OXYGEN- INDEPENDENT MECHANISMS AND PHAGOCYTIC ACTIVITY OF MACROPHAGE CELLS OF PATIENTS WITH ACUTE EXACERBATION OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE WHEN COMBINED WITH CORONARY HEART DISEASE].

August 5, 2015 By Manish Butte

[EFFICIENCY OF COMBINATION OF ROFLUMILAST AND QUERCETIN FOR CORRECTION OXYGEN- INDEPENDENT MECHANISMS AND PHAGOCYTIC ACTIVITY OF MACROPHAGE CELLS OF PATIENTS WITH ACUTE EXACERBATION OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE WHEN COMBINED WITH CORONARY HEART DISEASE].

Lik Sprava. 2015 Jan-Mar;(1-2):67-76

Authors: Gerych P, Yatsyshyn R

Abstract
Studied oxygen independent reaction and phagocytic activity of macrophage cells of patients with chronic obstructive pulmonary disease (COPD) II-III stage when combined with coronary heart disease (CHD). The increasing oxygen independent reactions monocytes and neutrophils and a decrease of the parameters that characterize the functional state of phagocytic cells, indicating a decrease in the functional capacity of macrophage phagocytic system (MPS) in patients with acute exacerbation of COPD, which runs as its own or in combination with stable coronary heart disease angina I-II. FC. Severity immunodeficiency state in terms of cellular component of nonspecific immunity in patients with acute exacerbation of COPD II-III stage in conjunction with the accompanying CHD increases with the progression of heart failure. Inclusion of basic therapy of COPD exacerbation and standard treatment of coronary artery disease and drug combinations Roflumilastand quercetin causes normalization of phagocytic indices MFS, indicating improved immune status and improves myocardial perfusion in terms of daily ECG monitoring.

PMID: 26118031 [PubMed – indexed for MEDLINE]

Severe combined immunodeficiency-an update.

August 4, 2015 By Manish Butte

Severe combined immunodeficiency-an update.

Ann N Y Acad Sci. 2015 Jul 31;

Authors: Cirillo E, Giardino G, Gallo V, D’Assante R, Grasso F, Romano R, Lillo CD, Galasso G, Pignata C

Abstract
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life-threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency. SCID patients often die during the first two years of life if appropriate treatments to reconstitute their immune system are not undertaken. Conventionally, SCIDs are classified according either to the main pathway affected by the molecular defect or on the basis of the specific immunologic phenotype that reflects the stage where the blockage occurs during the differentiation process. However, during the last few years many new causative gene alterations have been associated with unusual clinical and immunological phenotypes. Many of these novel forms of SCID also show extra-hematopoietic alterations, leading to complex phenotypes characterized by a functional impairment of several organs, which may lead to a considerable delay in the diagnosis. Here we review the biological and clinical features of SCIDs paying particular attention to the most recently identified forms and to their unusual or extra-immunological clinical features.

PMID: 26235889 [PubMed – as supplied by publisher]

[Chronic granulomatous disease: three cases with different presentations].

August 4, 2015 By Manish Butte

[Chronic granulomatous disease: three cases with different presentations].

Rev Chil Pediatr. 2015 Mar-Apr;86(2):112-6

Authors: D GE, B KB, P VP, R XN, L AQ

Abstract
INTRODUCTION: Chronic granulomatous disease (CGD) is a rare form of primary immunodeficiency disease, characterized by an abnormal susceptibility to bacterial and fungal infections, and it is caused by a deficit in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex (NADPH), resulting in the inability to generate reactive oxygen species that destroy microorganisms. The diagnosis is based on clinical characteristics and analysis of phagocytes, and later confirmed by molecular studies. Its management should consider antimicrobial prophylaxis, a search for infections and aggressive management of these.
OBJECTIVE: To describe three cases of CGD emphasizing their forms of presentation and to conduct a review of the condition.
CASE REPORTS: Three case reports, two of them first cousins, are presented. Molecular diagnosis was reached in one of the cases. Recurrent infections, abscesses, adenitis, granulomas and complications are identified to facilitate the suspected diagnosis of CGD, bearing in mind the importance of early diagnosis and genetic counseling.
CONCLUSIONS: EGC is a rare congenital primary immunodeficiency disorder, mostly with X-linked inheritance, autosomal recessive form, and a specific presentation form. Its diagnosis should be timely to avoid complications. Prophylaxis and aggressive treatment of infections should be performed, as well as genetic counseling.

PMID: 26235691 [PubMed – in process]

Antibiotic resistance in patients with primary immunodeficiency disorders versus immunocompetent patients.

August 4, 2015 By Manish Butte

Antibiotic resistance in patients with primary immunodeficiency disorders versus immunocompetent patients.

Expert Rev Clin Immunol. 2015 Aug 2;:1-10

Authors: Mohammadinejad P, Ataeinia B, Kaynejad K, Zeinoddini A, Sadeghi B, Hosseini M, Rezaei N, Aghamohammadi A

Abstract
OBJECTIVES: We aimed to investigate the antimicrobial susceptibility among bacterial isolates of patients with primary immunodeficiency disorders (PID) in comparison with immunocompetent patients.
METHODS: Patients’ antibiotic sensitivity profiles were extracted from their medical records. In order to compare the antibiotic sensitivity profiles of PID patients with immunocompetent patients, the results of antibiograms of patients who did not have a known or suspected immunodeficiency and were hospitalized during the same period were obtained and used as control subjects.
RESULTS: A total number of 257 isolates were obtained from 86 PID patients. Antimicrobial susceptibilities of several organisms isolated from PID patients were significantly lower compared to that of immunocompetent patients.
CONCLUSION: Antibiotic resistance seems to be higher among PID patients compared to immunocompetent patients. This indicates a need for further investigations for the possible factors responsible for antibiotic resistance in PID patients.

PMID: 26234890 [PubMed – as supplied by publisher]

Severe and Rapid Progression in Very Early-Onset Chronic Granulomatous Disease-Associated Colitis.

August 4, 2015 By Manish Butte

Severe and Rapid Progression in Very Early-Onset Chronic Granulomatous Disease-Associated Colitis.

J Clin Immunol. 2015 Aug 2;

Authors: Kawai T, Arai K, Harayama S, Nakazawa Y, Goto F, Maekawa T, Tamura E, Uchiyama T, Onodera M

Abstract
PURPOSE: Chronic granulomatous disease (CGD) is a primary immunodeficiency disease that leads to recurrent infection and hyper-inflammation, occasionally represented by CGD-associated colitis (CGD colitis). Although clinical symptoms of CGD colitis mimic those of ulcerative colitis (UC), there is no reliable standard measurement of disease activity or standard therapeutic strategy for CGD colitis. Here, we examined the clinical manifestation of CGD colitis based on severity using a noninvasive measure of disease activity, the Pediatric Ulcerative Colitis Activity Index (PUCAI), which has been validated and widely used for pediatric UC.
METHODS: Sixteen of 35 CGD patients, who were diagnosed with CGD colitis based on colonoscopic and histological findings, were examined using the PUCAI. Both the PUCAI and the physician global assessment (PGA) tool were retrospectively scored by reviewing medical records.
RESULTS: Disease activity defined by PUCAI was correlated with PGA, and increased at diagnosis of CGD colitis, especially in patients who were younger than 6 years of age (very early-onset CGD colitis: VEO-CGD colitis) when diagnosed with CGD colitis. All severe patients had a more progressive form of VEO-CGD colitis. Unlike mild and moderate patients, severe patients required multidrug therapy of corticosteroids and immunomodulator/immunosuppressants, and some were eventually treated with hematopoietic stem cell transplantation.
CONCLUSIONS: Although the validation of PUCAI in CGD colitis should be considered for future use, our results indicate that noninvasive measures could be effective to measure disease activity and help to determine suitable treatment for CGD colitis. In patients with VEO-CGD colitis, multidrug therapy would need to be considered at an early stage on the basis of disease activity.

PMID: 26233238 [PubMed – as supplied by publisher]

Regulatory B cells in CVID patients fail to suppress multifunctional IFN-γ(+)TNF-α(+)CD4(+) T cells differentiation.

August 2, 2015 By Manish Butte

Regulatory B cells in CVID patients fail to suppress multifunctional IFN-γ(+)TNF-α(+)CD4(+) T cells differentiation.

Clin Immunol. 2015 Jul 29;160(2):292-300

Authors: Vlkova M, Ticha O, Nechvatalova J, Kalina T, Litzman J, Mauri C, Blair PA

Abstract
Common variable immunodeficiency (CVID) refers to primary hypogammaglobulinemia with unknown pathogenesis. Although there is evidence for intrinsic B cell defects in some CVID patient groups, various abnormalities in cytokine production by T cells in CVID patients are frequently observed. Here, we demonstrate a relationship in the production of pro-inflammatory Th1 cytokines and regulatory B cells producing IL-10 between CVID patients and healthy controls. We describe CD19(+)CD24(hi)CD38(hi)IL-10(+) regulatory B cells generated after T cell stimulation of human peripheral blood lymphocytes ex vivo are able to suppress IFN-γ(+)TNF-α(+) producing CD4(+) T cells. This process is impaired in CVID patients, who present with both low numbers of CD19(+)CD24(hi)CD38(hi)IL-10(+) B cells and increased numbers of IFN-γ(+)TNF-α(+)CD4(+) T cells. Disruption of the regulatory B cell response to T cell stimulation explains the excessive T cell activation regarded as an immunoregulatory abnormality that is a frequent finding in CVID patients.

PMID: 26232673 [PubMed – as supplied by publisher]