Read by QxMD icon Read

IgG4 deficiency

Štefan Blazina, Alojz Ihan, Luca Lovrečić, Tinka Hovnik
Antibody deficiency is common finding in patients with Jacobsen syndrome (JS). In addition, there have been few reports of T-cell defects in this condition, possibly because most of the reported patients have not been specifically evaluated for T-cell function. In this article, we present a child with an 11q deletion and combined immunodeficiency and we perform a literature overview on immunodeficiency in JS. Our patient presented with recurrent bacterial and prolonged viral infections involving the respiratory system, as well as other classic features of the syndrome...
September 8, 2016: American Journal of Medical Genetics. Part A
Joo Hee Kim, Sunghoon Park, Yong Il Hwang, Seung Hun Jang, Ki Suck Jung, Yun Su Sim, Cheol Hong Kim, Changhwan Kim, Dong Gyu Kim
Immunoglobulin G subclass deficiency (IgGSCD) is a relatively common primary immunodeficiency disease (PI) in adults. The biological significance of IgGSCD in patients with chronic airway diseases is controversial. We conducted a retrospective study to characterize the clinical features of IgGSCD in this population. This study examined the medical charts from 59 adult patients with IgGSCD who had bronchial asthma or chronic obstructive pulmonary disease (COPD) from January 2007 to December 2012. Subjects were classified according to the 10 warning signs developed by the Jeffrey Modell Foundation (JMF) and divided into two patient groups: group I (n = 17) met ≥ two JMF criteria, whereas group II (n = 42) met none...
October 2016: Journal of Korean Medical Science
Seungjoo Lee, Jun Ho Choi, Chang Jin Kim, Jeong Hoon Kim
OBJECT: Hypophysitis is a rare disease entity mimicking a pituitary adenoma. In spite of crucial disease involving a pituitary gland which is a main component of hormonal axis, there have been minimal researches regarding the hypophysitis. In this study, we described the constellation of the preoperative findings including clinical, radiologic, and endocrinologic features, as well as postoperative outcomes of the hypophysitis. METHODS: The authors reviewed the data retrospectively of a total of 2,814 patients who underwent microsurgery due to pituitary mass lesion (Asan Medical Center)...
July 28, 2016: World Neurosurgery
Sandro F Perazzio, Átila Granados, Reinaldo Salomão, Neusa P Silva, Magda Carneiro-Sampaio, Luis Eduardo C Andrade
OBJECTIVE: To determine the frequency of immunodeficiency-like states in SLE and related clinical features. METHODS: Three hundred and fifteen SLE patients and 301 controls were evaluated for C4A and C4B gene copy number, immunoglobulin isotypes, IgG subclasses, total haemolytic complement (CH50), C2, C3 and neutrophil oxidative burst. C2 and C3 genes were sequenced in cases of low C2 or C3 levels. Those presenting abnormal CH50 with normal C2 and C3 underwent C1q-C9 determination...
September 2016: Rheumatology
Stéphane Bally, Hanna Debiec, Denise Ponard, Frédérique Dijoud, John Rendu, Julien Fauré, Pierre Ronco, Chantal Dumestre-Perard
Most patients with idiopathic membranous nephropathy (IMN) have IgG4 autoantibodies against phospholipase A2 receptor (PLA2R). C3 and C5b-9 are found in immune deposits of IMN kidney biopsy specimens, but the pathway of complement activation in IMN remains elusive. We report the case of a patient who developed IMN with intense staining for PLA2R, IgG4, C3, C5b-9, factor B, and properdin and very weak staining for C1q, C4d, and IgG1. Measurement of mannan binding lectin (MBL) antigenic level and activity revealed MBL deficiency...
May 6, 2016: Journal of the American Society of Nephrology: JASN
Haitham Odat, Mohannad Alqudah
The purpose of this study is to readdress the issue of primary humoral immunodeficiency frequency and pattern in medically resistant chronic rhinosinusitis (CRS) based on the new guidelines for CRS diagnosis and management. Two hundred and fifty-seven consecutive patients with refractory CRS were included in this study. The results of their IgA, IgM, IgG, and IgG subclasses were analyzed and compared with 75 age- and gender-matched control groups. The average age of CRS patients was 34 years (SD ± 13). In the refractory CRS group, there was no significant difference between patients with or without humoral immunodeficiency based on age, gender and status of allergy, polyps and revision...
October 2016: European Archives of Oto-rhino-laryngology
Caroline Pfeiffer, Eve Mathieu-Dupas, Pauline Logghe, Géraldine Lissalde-Lavigne, Julien Balicchi, Umran Caliskan, Thomas Valentin, Daniel Laune, Franck Molina, Jean François Schved, Muriel Giansily-Blaizot
While the immune response to hemophilic factors in hemophilia has been widely studied, little is known about the development of anti-Factor VII (FVII) antibodies in FVII deficiency. We developed a robust technique based on the x-MAP technology to detect the presence of antibodies against FVII and characterize their isotype and validated this method using blood samples from 100 patients with FVII deficiency (median FVII clotting activity [FVII:C]: 6%) and 95 healthy controls. Anti-FVII antibodies were detected in patients but also in some controls, although the concentration of total immunoglobulin G (IgGt) and IgG1 and IgG4 subclasses was significantly different between groups...
May 2016: Thrombosis Research
Katariina Hannula-Jouppi, Satu-Leena Laasanen, Mette Ilander, Laetitia Furio, Mirja Tuomiranta, Riitta Marttila, Leila Jeskanen, Valtteri Häyry, Mervi Kanerva, Sirpa Kivirikko, Marja-Leena Tuomi, Hannele Heikkilä, Satu Mustjoki, Alain Hovnanian, Annamari Ranki
IMPORTANCE: Netherton syndrome (NS) is a rare and severe genodermatosis caused by SPINK5 mutations leading to the loss of lymphoepithelial Kazal-type-related inhibitor (LEKTI). Netherton syndrome is characterized by neonatal scaling erythroderma, a bamboolike hair defect, a substantial skin barrier defect, and a profound atopic diathesis. Netherton syndrome has been proposed to be a primary immunodeficiency syndrome because of the high frequency of infections. The precise mechanisms underlying the disease are not fully understood...
April 2016: JAMA Dermatology
Fernanda S Nascimento, Lisandra A Suzuki, Nilson Branco, Regina M B Franco, Paula D Andrade, Sandra C B Costa, Marcelo N Pedro, Cláudio L Rossi
Cerebral toxoplasmosis can be highly debilitating and occasionally fatal in persons with immune system deficiencies. In this study, we evaluated the Toxoplasma gondii-specific IgG subclass antibody response in 19 cerebrospinal fluid (CSF) samples from patients with cerebral toxoplasmosis who had a positive IgG anti-T. gondii ELISA standardized with a cyst antigen preparation. There were no significant differences between the rates of positivity and the antibody concentrations (arithmetic means of the ELISA absorbances, MEA) for IgG1 and IgG2, but the rates of positivity and MEA values for these two IgG subclasses were significantly higher than those for IgG3 and IgG4...
September 2015: Revista do Instituto de Medicina Tropical de São Paulo
Shahin Gaini
A 51-year-old Caucasian woman with Listeria monocytogenes meningitis was treated and discharged after an uncomplicated course. Her medical history included immunosuppressive treatment with prednisolone and azathioprine for autoimmune hepatitis. A diagnostic work-up after the meningitis episode revealed that she had low levels of the IgG4 subclass. To our knowledge, this is the first case report describing a possible association between autoimmune hepatitis and the occurrence of Listeria monocytogenes meningitis, describing a possible association between Listeria monocytogenes meningitis and deficiency of the IgG4 subclass and finally describing a possible association between Listeria monocytogenes meningitis and immunosuppressive therapy with prednisolone and azathioprine...
2015: Case Reports in Infectious Diseases
Kanchana Ngaosuwan, Therdkiat Trongwongsa, Shanop Shuangshoti
BACKGROUND: This is the first case report of focal seizure as a manifestation of Immunoglobulin G4 (IgG4)-related hypophysitis. IgG4-related hypophysitis is a novel category of hypophysitis. The clinical presentations, imaging studies and initial pathology studies can mimic lymphocytic hypophysitis. Here we report additional clinical clues in differentiating these two conditions. CASE PRESENTATION: A 43-year-old Thai male presented with focal seizure, headache, and anterior pituitary hypofunction...
2015: BMC Endocrine Disorders
B G Jones, C M Oshansky, R Bajracharya, L Tang, Y Sun, S S Wong, R Webby, P G Thomas, J L Hurwitz
Vitamin A supports the induction of immunoglobulin (Ig)A responses at mucosal surfaces in mice, but much less is known about the influence of vitamins on antibody isotype expression in humans. To address this knowledge gap, we examined 46 residual blood samples from adults and children, some of whom were experiencing influenza virus infections of the respiratory tract. Assays were performed for retinol binding protein (RBP, a surrogate for vitamin A), vitamin D (a related vitamin) and antibody isotypes. Results showed that all but two tested samples exhibited RBP and/or vitamin D insufficiencies or deficiencies...
February 2016: Clinical and Experimental Immunology
Akihiro Ihara, Nobuaki Suzuki, Tadashi Matsushita, Akitada Ichinose
Acquired von Willebrand syndrome (AVWS) is a rare bleeding disorder similar to inherited von Willebrand disease. We describe a 78-year-old woman with coexistent idiopathic thrombocytopenic purpura (ITP) and AVWS. The patient had once been admitted to our hospital because of cerebral infarction. Her platelet count had been normal at that time. Ten years later, she showed a severe bleeding tendency (platelet count 3.2×10(4)/μl). Analysis of hemostatic parameters showed very low (<6%) von Willebrand factor ristocetin cofactor (vWF: Rco), and low VIII: C (22%), but elevated (276%) von Willebrand antigen...
July 2015: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
G Manfredi, L Dell'Aera, R Liguori
PROBLEM: It's well known that iv. immunoglobulins may be useful to overcome habitual abortions, but the mechanisms at the base of a successful outcome and the likelihoods are still unknown. METHOD OF STUDY: In one hundred and sixty women with habitual abortions and one hundred and sixty healthy mothers, we evaluated blood IgG subclasses; among the patients, sixteen merely showed IgG subclass deficiency, after leaving out any autoimmunity and/or coagulation disorders...
May 2015: European Annals of Allergy and Clinical Immunology
Leif G Hanitsch, Madlen Löbel, Holger Müller-Redetzky, Mariana Schürmann, Norbert Suttorp, Nadine Unterwalder, Ulrike Mönnich, Christian Meisel, Kirsten Wittke, Hans-Dieter Volk, Carmen Scheibenbogen, Uwe Kölsch
PURPOSE: Since we described for the first time a patient with IgG4 autoantibodies to IFN-γ more than 10 years ago, many patients with IFN-γ IgG4 autoantibodies have been described, mostly in Mongolian/ Asian patients with a particular HLA background and in association with disseminated nontuberculous mycobacterial infections. Very recently, the first Caucasian US patient was reported and we now present the case of a 65-year old Caucasian woman with severe disseminated Mycobacterium avium infection, cerebral toxoplasmosis and salmonella sepsis who was tested positive for IFN-γ deficiency due to unusual anti-IFN-γ IgG1 autoantibodies...
May 2015: Journal of Clinical Immunology
Hironori Bando, Genzo Iguchi, Hidenori Fukuoka, Masaaki Taniguchi, Seiji Kawano, Miki Saitoh, Kenichi Yoshida, Ryusaku Matsumoto, Kentaro Suda, Hitoshi Nishizawa, Michiko Takahashi, Akio Morinobu, Eiji Kohmura, Wataru Ogawa, Yutaka Takahashi
INTRODUCTION: Immunoglobulin (Ig) G4-related hypophysitis is an emerging clinical entity, which is characterized by an elevated serum IgG4 concentration and infiltration of IgG4-positive plasma cells in the pituitary. Although some criteria for its diagnosis have been proposed, they have not been fully established. In particular, differential diagnosis from secondary chronic inflammation including granulomatosis with polyangiitis (GPA) is difficult in some cases. We describe central diabetes insipidus with pituitary swelling exhibiting infiltration of IgG4-positive cells...
October 2015: Pituitary
Marina Vivarelli, Francesco Emma, Thimothée Pellé, Christopher Gerken, Stefania Pedicelli, Francesca Diomedi-Camassei, Günter Klaus, Siegfried Waldegger, Pierre Ronco, Hanna Debiec
Alloimmune antenatal membranous nephropathy (MN) during pregnancy results from antibodies produced by a neutral endopeptidase (NEP)-deficient mother. Here we report two recent cases that provide clues to the severity of renal disease. Mothers of the two children had circulating antibodies against NEP showing the characteristic species-dependent pattern by immunofluorescence on kidney slices. A German mother produced predominantly anti-NEP IgG4 accompanied by a low amount of IgG1. Her child recovered renal function within a few weeks...
March 2015: Kidney International
Brandon S Imber, Han S Lee, Sandeep Kunwar, Lewis S Blevins, Manish K Aghi
PURPOSE: The authors review their treatment experience and summarize clinical outcomes for patients with hypophysitis over the past 15 years. METHODS: A retrospective analysis was conducted on patients with lymphocytic, granulomatous or IgG4-related hypophysitis treated from 1997 to 2014 at a single academic center. Patients' medical records were reviewed and binary logistic regression analysis was used to assess whether various clinical parameters were associated with improved outcomes including endocrine function, radiographic appearance and disease recurrence...
October 2015: Pituitary
Pirkka T Pekkarinen, Nelli Heikkilä, Kai Kisand, Pärt Peterson, Marina Botto, Mohamed R Daha, Christian Drouet, Lourdes Isaac, Merja Helminen, Tari Haahtela, Seppo Meri, Hanna Jarva, T Petteri Arstila
In addition to its effector functions, complement is an important regulator of adaptive immune responses. Murine studies suggest that complement modulates helper T-cell differentiation, and Th1 responses in particular are impaired in the absence of functional complement. Here, we have studied humoral responses to toxoid vaccines in eight patients with C3 deficiency, representing more than 25% of all the known patients worldwide. Serum cytokine levels were also studied. The patients developed normal Ig responses to tetanus and diphtheria toxoids, but IgE levels were low...
March 2015: European Journal of Immunology
Anna Hogendorf, Beata S Lipska-Zietkiewicz, Agnieszka Szadkowska, Maciej Borowiec, Magdalena Koczkowska, Piotr Trzonkowski, Izabela Drozdz, Krystyna Wyka, Janusz Limon, Wojciech Mlynarski
A girl with 18q deletion syndrome was diagnosed with autoimmune diabetes mellitus and Hashimoto's thyroiditis at the age of 3 yr. In addition, the girl suffered from recurrent infections due to immunoglobulin A and IgG4 deficiency. She was also found to have CD3+CD4+FoxP3+, CD3+CD4+FoxP3+CD25+, and CD3+CD4+CD25+CD127 regulatory T cells deficiency. The exceptional coincidence of the two autoimmune disorders occurring at an early age, and associated with immune deficiency, implies that genes located on deleted 19...
March 2016: Pediatric Diabetes
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"