Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :25918342
Publication Date : //

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.


Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy patients. We report three patients from unrelated kindreds, aged 8, 12, and 37 yr with isolated CMC, who display AR IL-17RC deficiency. The patients are homozygous for different nonsense alleles that prevent the expression of IL-17RC on the cell surface. The defect is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. However, in contrast to what is observed for the IL-17RA- and ACT1-deficient patients tested, the response to IL-17E (IL-25) is maintained in these IL-17RC-deficient patients. These experiments of nature indicate that human IL-17RC is essential for mucocutaneous immunity to C. albicans but is otherwise largely redundant.

Authors : Ling Yun , Cypowyj Sophie , Aytekin Caner , Galicchio Miguel , Camcioglu Yildiz , Nepesov Serdar , Ikinciogullari Aydan , Dogu Figen , Belkadi Aziz , Levy Romain , Migaud Mélanie , Boisson Bertrand , Bolze Alexandre , Itan Yuval , Goudin Nicolas , Cottineau Julien , Picard Capucine , Abel Laurent , Bustamante Jacinta , Casanova Jean-Laurent , Puel Anne ,

Related products :

Catalog number Product name Quantity
31-076 DOK2 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210 (bcr 0.05 mg
31-062 DOK1 is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210 (bcr 0.05 mg
CANX CANDN1 Gene candidiasis, nail 1 (with ICAM1 deficiency)
29-978 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutatio 0.05 mg
orb61239 Dasatinib Dasatinib is an oral multi- BCR_ABL and Src family tyrosine kinase inhibitor approved for use in patients with chronic myelogenous leukemia (CML) after imatinib treatment and Philadelphia ch 100 mg
27-710 Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus. The ACAT2 gene shows comple 0.1 mg
27-709 Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus. The ACAT2 gene shows comple 0.1 mg
303-08741 tic and noncataractous), renal proximal tubules in patients with diabetic nephropathy and chronic renal failure, diabetic retina, peripheral nerves of diabetic neuropathy, atherosclerotic lesions of a 20UG
30-364 TPI1 belongs to the triosephosphate isomerase family. Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) . TPI deficiency is an autosomal recessive disorder. It is 0.05 mg
26-284 TPI1 belongs to the triosephosphate isomerase family. Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) . TPI deficiency is an autosomal recessive disorder. It is 0.05 mg
31-290 Defects in NP are the cause of nucleoside phosphorylase deficiency (NP deficiency). It leads to a severe T-cell immunodeficiency with neurologic disorder in children. The specific function of NP is no 0.05 mg
abx008000 IL-17RC Antibody 200 μl
EH181 Human h.IL-17RC ELISA kit kit
RKQ8NAC3 Human IL-17RC Fc tag Recombinant 500ug
RKQ8NAC31 Human IL-17RC Recombinant 100ug
EK1181 Mouse IL-17RC ELISA Kit 1x96 well plate
EM107 Mouse m.IL-17RC ELISA kit kit
EK0984 Human IL-17RC ELISA Kit 1x96 well plate
RKQ8NAC3 Human IL-17RC Fc tag Recombinant 100ug
RKQ8NAC31 Human IL-17RC Recombinant 20ug
RKQ8NAC31 Human IL-17RC Recombinant 500ug
RKQ8NAC3 Human IL-17RC Fc tag Recombinant 20ug
A024467 Rabbit Anti-IL-17RC per IL-17RL Ab 100ul
bs-2607R Rabbit Anti-IL-17RC Polyclonal Antibody 100ul
bs-2607R-PE-Cy7 Rabbit Anti-IL-17RC Polyclonal Antibody, PE-Cy7 Conjugated 100ul


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur