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Homozygous K108E mutation of interferon regulatory factor 8 (IRF8) is reported to cause dendritic cell and monocyte deficiency. However, more widespread immune dysfunction is predicted from the multiple roles ascribed to IRF8 in immune cell development and function.
This article was published in the following journal.
Name: The Journal of allergy and clinical immunology
The critical functions of dendritic cells (DCs) in immunity and tolerance have been demonstrated in many animal models but their non-redundant roles in humans are more difficult to probe. Human primar...
Li-Fraumeni syndrome (LFS) is a rare genetic disorder that confers a high risk of developing certain malignancies at a young age. It is caused by germline mutations in the gene and is typically diagn...
Mesenchymal stem cells (MSCs) have a superior immunomodulatory capacity compared to other cells of the immune system, and they hold great promise for treating various immune disorders. However, their ...
Activated phosphatidylinositol-3-OH kinase-delta (PI3Kδ) syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory infections, lymphoid ...
HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β...
A French University team (M. Jeanne, MD, and M. LOGIER, Ph D) have developed a pain assessment tool based on the analysis of the variability heart rate which evaluates the Analgesia Nocice...
This is a multicenter, open-label study in adult subjects with Type 1 Complex Regional Pain Syndrome. Subjects diagnosed with unilateral Type 1 CRPS will be enrolled sequentially to recei...
To evaluate the safety, tolerance and efficacy of three different dosage regimens of Amphotericin B Lipid Complex (ABLC) compared to Fungizone (Amphotericin B) in patients with AIDS and cr...
The objective is to collect skin biopsies rom patients with Costello syndrome to analyze the molecular mechanisms responsible for this syndrome caused by a mutation in the HRAS gene and th...
Complex regional pain syndrome (CRPS) is a disease provoking chronic pain in the limbs, following a trauma. Patient care is complicated by the variable clinical picture and response to tre...
A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.
Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.
Recirculating, dendritic, antigen-presenting cells containing characteristic racket-shaped granules (Birbeck granules). They are found principally in the stratum spinosum of the EPIDERMIS and are rich in Class II MAJOR HISTOCOMPATIBILITY COMPLEX molecules. Langerhans cells were the first dendritic cell to be described and have been a model of study for other dendritic cells (DCs), especially other migrating DCs such as dermal DCs and INTERSTITIAL DENDRITIC CELLS.
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)