Primary immunodeficiencies: 2009 update

Notarangelo, Luigi D.; Fischer, Alain; Geha, Raif S.; Casanova, Jean‐Laurent; Chapel, Helen; Conley, Mary Ellen; Cunningham‐Rundles, Charlotte; Etzioni, Amos; Hammartröm, Lennart; Nonoyama, Shigeaki; Ochs, Hans D.; Puck, Jennifer M.; Roifman, Chaim M.; Seger, Reinhard; Wedgwood, Josiah F.

doi:10.1016/j.jaci.2009.10.013

Cited by 403 publications

(322 citation statements)

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“…The clinicopathological presentation of these diseases includes severely impaired humoral immune responses characterized by the absence of GC and altered production of antigen-specific memory B cells and antibodies. 57 The underlying etiology and molecular mechanisms of these diseases remain unclear. Recent studies have, however, implicated various genes such as ICOS, CD40L and SAP to be involved in pathogenesis of the diseases.…”

Section: The Darker Side Of Follicular Helper T Cells S Shekhar and Xmentioning

confidence: 99%

The darker side of follicular helper T cells: from autoimmunity to immunodeficiency

Shekhar

Yang

2012

Cell Mol Immunol

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Follicular helper T (T FH ) cells represent a distinct subset of CD4 1 helper T (T H ) cells specialized in providing help to B cells. They are characterized by their unique transcriptional profile (Bcl6), surface marker expression (CXCR5, PD-1, ICOS and CD40L) and cytokine production pattern (IL-21 and IL-6). T FH cells provide help to B cells both to form germinal centers (GCs) and to differentiate into memory B cells and plasma cells for generation of humoral responses. However, there is emerging evidence that implicates T FH cells in the development of various human pathologies, such as autoimmune diseases, immunodeficiency and lymphoma. This review focuses on the current progress in this area including mouse and human studies. A clearer understanding of the mechanisms of T FH cell-mediated immunity and pathology may be exploited for rational development of therapeutic strategies.

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Section: The Darker Side Of Follicular Helper T Cells S Shekhar and Xmentioning

confidence: 99%

The darker side of follicular helper T cells: from autoimmunity to immunodeficiency

Shekhar

Yang

2012

Cell Mol Immunol

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“…Obična varijabilna imunodeficijencija (CVID) je primarni poremećaj koji karakteriše smanjen nivo serumskih imunoglobulina: IgG, IgA i/ili IgM (najmanje dvije standardne devijacije ispod medijane za uzrast dijeteta), sa smanjenim nivoom ili pak apsolutnim nedostatkom izohemaglutinina i/ ili lošim odgovorom na vakcine kod pacijenta starijih od 2 godine (2,3). CVID je povezan sa povećanim brojem infekcija, najčešće bakterijske infekcije respiratornog trakta.…”

Section: Uvodunclassified

Obična Varijabilna Imunodeficijencija (Cvid)

Erić¹,

Đurđević-Banjac²

2018

SCEPED

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SažetakObična varijabilna imunodeficijencija (CVID) je primarni poremećaj imuniteta koga karakteriše smanjena sposobnost proizvodnje imunoglobulina. CVID ima incidenciju od 1:10.000 do 1: 200.000 (odnos muškog i ženskog pola je 1:1) i obično se javlja i dijagnostikuje iza desete godine života. Tačna patofiziologija ovog oboljenja je i dalje nejasna. CVID je povezan sa autoimunim poremećajima, granulomatoznim i gastrointestinalnim oboljenjima, ovi pacijenti imaju predispoziciju za razvoj malignih oboljenja, posebno non-Hodgkin limfoma. Pošto različiti organi i organski sistemi mogu biti zahvaćeni, svi klinički ljekari, posebno pedijatri, trebaju imati na umu ovo oboljenje, kada se sreću sa pacijentima koji imaju recidivirajuće infekcije koje mogu biti praćene autoimunim poremećajima.Ključne riječi: primarni poremećaji imuniteta, imunoglobulini, autoimuna oboljenja COMMON VARIABLE IMMUNODEFICIENCY (CVID) Želimir Erić, Biljana Đurđević-Banjac University Children's Hospital, University Clinical Centre of the Republic of Srpska Bosnia i Hercegovina AbstractCommon variable immunodeficiency (CVID) is an immunodeficiency disease characterized by diminished ability to produce immunoglobulins. CVID has an estimated incidence of 1:10.000 to 1:200.000 (male and female 1:1) and usually presents in the second and third decade, although it also has a peak of incidence in childhood. The exact pathophysiology remains unclear. CVID can be associated with autoimmune, granulomatous and gastrointestinal diseases and patients have a predisposition to malignancies (especially non-Hodgkin lymphoma). Since different organ systems can be affected, all clinicians need to be aware of this entity, especially when confronted with patients with recurrent infections and/or multiple autoimmune diseases.

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“…Autoimmunity represents a "functional abnormality" of this system as follows: an antibody produced by B cells, if it targets self-components, is bound to self-cells or self-tissues to cause chronic inflammation. Primary immunodeficiency syndrome is a set of symptoms that occur due to gene mutation of individual functional proteins formed at individual steps of this system [11].…”

Section: Adaptive Immunity and Diseasementioning

confidence: 99%

Pathogenesis of Systemic Inflammatory Diseases in Childhood: ?Lessons From Clinical Trials of Anti-Cytokine Monoclonal Antibodies for Kawasaki Disease, Systemic Onset Juvenile Idiopathic Arthritis, and Cryopyrin-Associated Periodic Fever Syndrome?

Yokota¹,

Kikuchi²,

Nozawa³

et al. 2013

Pediat Therapeut

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Inflammation has often been considered a non-specific response, and to play only a bridging role in the activation of adaptive immunity. However, it is now accepted that inflammation is the product of an independent innate immune system closely linked to the adaptive immune system. The key mediators of inflammation are inflammatory cytokines, as determined by multiple lines of evidence both in vitro and in vivo. Due to the crucial role of inflammatory cytokines in the pathogenesis of autoimmune disorders, anti-cytokine treatment has been developed as a therapy for rheumatoid arthritis, juvenile idiopathic arthritis (JIA), and inflammatory bowel disease. We recently completed several clinical trials of anti-cytokine treatment for children with systemic inflammatory diseases: anti-IL-6 receptor monoclonal antibody (tocilizumab) for children with 2 subtypes of JIA (poly-JIA and systemic JIA), anti-TNF-alpha monoclonal antibody (infliximab) for children with Kawasaki disease, and anti-IL-1-beta monoclonal antibody (canakinumab) for children with cryopyrin-associated periodic syndrome. This review summarizes the basis of inflammation in terms of innate immunity and adaptive immunity in these systemic inflammatory diseases, clinical efficacy and tolerability of these biologic agents, and attempts to determine the roles of individual inflammatory cytokines in disease pathogenesis.

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Primary immunodeficiencies: 2009 update

Cited by 403 publications

References 0 publications

The darker side of follicular helper T cells: from autoimmunity to immunodeficiency

The darker side of follicular helper T cells: from autoimmunity to immunodeficiency

Obična Varijabilna Imunodeficijencija (Cvid)

Pathogenesis of Systemic Inflammatory Diseases in Childhood: ?Lessons From Clinical Trials of Anti-Cytokine Monoclonal Antibodies for Kawasaki Disease, Systemic Onset Juvenile Idiopathic Arthritis, and Cryopyrin-Associated Periodic Fever Syndrome?

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