Immune Dysfunction With T-Cell Inactivation Due to Calcium Entry Defect 1

Last update 01 Nov 2024

Basic Info

Synonyms

CID due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency, IMD9

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Introduction

Combined immunodeficiency (CID) due to <i>ORAI1</i> deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

100 Clinical Results associated with Immune Dysfunction With T-Cell Inactivation Due to Calcium Entry Defect 1

100 Translational Medicine associated with Immune Dysfunction With T-Cell Inactivation Due to Calcium Entry Defect 1

0 Patents (Medical) associated with Immune Dysfunction With T-Cell Inactivation Due to Calcium Entry Defect 1

Literatures (Medical) associated with Immune Dysfunction With T-Cell Inactivation Due to Calcium Entry Defect 1

01 Apr 2022·Muscle & NerveQ3 · MEDICINE

Hereditary myopathies associated with hematological abnormalities

Q3 · MEDICINE

Review

Author: Liewluck, Teerin ; Beecher, Grayson ; Fleming, Mark D.

AbstractThe diagnostic evaluation of a patient with suspected hereditary muscle disease can be challenging. Clinicians rely largely on clinical history and examination features, with additional serological, electrodiagnostic, radiologic, histopathologic, and genetic investigations assisting in definitive diagnosis. Hematological testing is inexpensive and widely available, but frequently overlooked in the hereditary myopathy evaluation. Hematological abnormalities are infrequently encountered in this setting; however, their presence provides a valuable clue, helps refine the differential diagnosis, tailors further investigation, and assists interpretation of variants of uncertain significance. A diverse spectrum of hematological abnormalities is associated with hereditary myopathies, including anemias, leukocyte abnormalities, and thrombocytopenia. Recurrent rhabdomyolysis in certain glycolytic enzymopathies co‐occurs with hemolytic anemia, often chronic and mild in phosphofructokinase and phosphoglycerate kinase deficiencies, or acute and fever‐associated in aldolase‐A and triosephosphate isomerase deficiency. Sideroblastic anemia, commonly severe, accompanies congenital‐to‐childhood onset mitochondrial myopathies including Pearson marrow‐pancreas syndrome and mitochondrial myopathy, lactic acidosis, and sideroblastic anemia phenotypes. Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4‐related myopathy. Neutropenia, chronic or cyclical, with recurrent infections, infantile‐to‐childhood onset skeletal myopathy and cardiomyopathy are typical of Barth syndrome, while chronic neutropenia without infection occurs rarely in DNM2‐centronuclear myopathy. Peripheral eosinophilia may accompany eosinophilic inflammation in recessive calpainopathy. Lipid accumulation in leukocytes on peripheral blood smear (Jordans' anomaly) is pathognomonic for neutral lipid storage diseases. Mild thrombocytopenia occurs in autosomal dominant, childhood‐onset STIM1 tubular aggregate myopathy, STIM1 and ORAI1 deficiency syndromes, and GNE myopathy. Herein, we review these hereditary myopathies in which hematological features play a prominent role.

01 Feb 2013·Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns

[Efficacy observation on application of negative pressure therapy in the treatment of superficial partial-thickness scald wound in children].

Article

Author: Zhang, Lin ; Cai, Jian-hua ; Li, Dong-jie ; Chai, Jia-ke ; Zhu, Hua ; Shen, Chuan-an ; Cai, Jin-dong ; Tuo, Xiao-ye

OBJECTIVETo observe the effect of negative pressure therapy in the treatment of superficial partial-thickness scald in children.METHODSThree hundred and seven children with superficial partial-thickness scald hospitalized from August 2009 to May 2012 were divided into negative pressure therapy group (NPT, n = 145) and control group (C, n = 162) according to the random number table. Patients in group NPT were treated with negative pressure from within post injury day (PID) 3 to PID 9 (with -16 kPa pressure), while traditional occlusive dressing method was used in group C. Changes in body temperature, wound healing condition, frequency of dressing change were compared between group NPT and group C. Bacterial culture results of wounds were compared before and after treatment in group NPT. Volume of drained transudate per one percent of wound area was recorded in group NPT on PID 1 to PID 3. Data were processed with t test or chi-square test.RESULTSThe incidence of high fever was significantly lower in group NPT (26.9%, 39/145) than in group C (63.6%, 103/162, χ(2) = 41.419, P < 0.01). On PID 9, complete wound epithelization was observed in 138 patients in group NPT, and in 7 patients there were a few residual wounds which healed after dressing change for 2 days. The wound healing time of patients in group NPT [(9.2 ± 0.6) d] was obviously shorter than that in group C [(10.1 ± 1.6) d, t = 6.895, P < 0.01]. The frequency of dressing change among patients in group NPT [(2.05 ± 0.22) times] was significantly decreased as compared with that in group C [(4.82 ± 0.81) times, t = 39.878, P < 0.01]. Bacteria were found in wound secretion of seventeen patients in group NPT before treatment, while no bacterium was discovered in all patients after treatment. Volumes of drainage fluid in group NPT were proportional to wound areas, which were respectively (9.8 ± 3.2), (6.2 ± 2.1), (4.1 ± 1.6) mL per one percent of wound area on PID 1, 2, and 3.CONCLUSIONSNPT can decrease times of dressing change, and alleviate infection and inflammatory response by drainage of transudate, which promotes wound healing at last. NPT is proved to be a safe and effective approach for treatment of children with superficial partial-thickness scald.

04 Jun 2009·Plant PhysiologyQ1 · BIOLOGY

PINOID Kinase Regulates Root Gravitropism through Modulation of PIN2-Dependent Basipetal Auxin Transport in Arabidopsis

Q1 · BIOLOGY

Article

Author: Edwards, Karin S. ; Rahman, Abidur ; Muday, Gloria K. ; Sukumar, Poornima ; DeLong, Alison

AbstractReversible protein phosphorylation is a key regulatory mechanism governing polar auxin transport. We characterized the auxin transport and gravitropic phenotypes of the pinoid-9 (pid-9) mutant of Arabidopsis (Arabidopsis thaliana) and tested the hypothesis that phosphorylation mediated by PID kinase and dephosphorylation regulated by the ROOTS CURL IN NAPHTHYLPHTHALAMIC ACID1 (RCN1) protein might antagonistically regulate root auxin transport and gravity response. Basipetal indole-3-acetic acid transport and gravitropism are reduced in pid-9 seedlings, while acropetal transport and lateral root development are unchanged. Treatment of wild-type seedlings with the protein kinase inhibitor staurosporine phenocopies the reduced auxin transport and gravity response of pid-9, while pid-9 is resistant to inhibition by staurosporine. Staurosporine and the phosphatase inhibitor, cantharidin, delay the asymmetric expression of DR5∷revGFP (green fluorescent protein) at the root tip after gravistimulation. Gravity response defects of rcn1 and pid-9 are partially rescued by treatment with staurosporine and cantharidin, respectively. The pid-9 rcn1 double mutant has a more rapid gravitropic response than rcn1. These data are consistent with a reciprocal regulation of gravitropism by RCN1 and PID. Furthermore, the effect of staurosporine is lost in pinformed2 (pin2). Our data suggest that reduced PID kinase function inhibits gravitropism and basipetal indole-3-acetic acid transport. However, in contrast to PID overexpression studies, we observed wild-type asymmetric membrane distribution of the PIN2 protein in both pid-9 and wild-type root tips, although PIN2 accumulates in endomembrane structures in pid-9 roots. Similarly, staurosporine-treated plants expressing a PIN2∷GFP fusion exhibit endomembrane accumulation of PIN2∷GFP, but no changes in membrane asymmetries were detected. Our data suggest that PID plays a limited role in root development; loss of PID activity alters auxin transport and gravitropism without causing an obvious change in cellular polarity.

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Immune Dysfunction With T-Cell Inactivation Due to Calcium Entry Defect 1

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