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Items: 1 to 20 of 79

1.

Autosomal recessive interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives.

Cardenes M, von Bernuth H, García-Saavedra A, Santiago E, Puel A, Ku CL, Emile JF, Picard C, Casanova JL, Colino E, Bordes A, Garfia A, Rodríguez-Gallego C.

J Pediatr. 2006 Apr;148(4):549-51.

PMID:
16647422
2.

Shigella sonnei meningitis due to interleukin-1 receptor-associated kinase-4 deficiency: first association with a primary immune deficiency.

Chapel H, Puel A, von Bernuth H, Picard C, Casanova JL.

Clin Infect Dis. 2005 May 1;40(9):1227-31.

3.

Inherited human IRAK-4 deficiency: an update.

Picard C, von Bernuth H, Ku CL, Yang K, Puel A, Casanova JL.

Immunol Res. 2007;38(1-3):347-52. Review.

PMID:
17917042
4.

Delayed separation of the umbilical cord in two siblings with Interleukin-1 receptor-associated kinase 4 deficiency: rapid screening by flow cytometer.

Takada H, Yoshikawa H, Imaizumi M, Kitamura T, Takeyama J, Kumaki S, Nomura A, Hara T.

J Pediatr. 2006 Apr;148(4):546-8. Erratum in: J Pediatr. 2015 Jun;166(6):1550.

PMID:
16647421
5.

Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses.

Day N, Tangsinmankong N, Ochs H, Rucker R, Picard C, Casanova JL, Haraguchi S, Good R.

J Pediatr. 2004 Apr;144(4):524-6.

PMID:
15069404
6.

Staphylococcal pericarditis, and liver and paratracheal abscesses as presentations in two new cases of interleukin-1 receptor associated kinase 4 deficiency.

Comeau JL, Lin TJ, Macken MB, Li B, Ku CL, von Bernuth H, Casanova JL, Issekutz AC.

Pediatr Infect Dis J. 2008 Feb;27(2):170-4. doi: 10.1097/INF.0b013e318157ad01.

PMID:
18174872
7.

[IRAK-4: the key molecule of TLR/IL-1R common signal transduction system].

Liu ZJ, Liu CA, Gong JP.

Sheng Li Ke Xue Jin Zhan. 2005 Jul;36(3):276-9. Review. Chinese. No abstract available.

PMID:
16270836
8.

Cancer in families with severe combined immune deficiency.

Morrell D, Chase CL, Swift M.

J Natl Cancer Inst. 1987 Mar;78(3):455-8.

PMID:
3469459
9.

Novel role and regulation of the interleukin-1 receptor associated kinase (IRAK) family proteins.

Huang YS, Misior A, Li LW.

Cell Mol Immunol. 2005 Feb;2(1):36-9. Review.

10.

Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency.

Andres O, Strehl K, Kölsch U, Kunzmann S, Lebrun AH, Stroh T, Schwarz K, Morbach H, von Bernuth H, Liese J.

Pediatr Infect Dis J. 2013 Sep;32(9):1017-9. doi: 10.1097/INF.0b013e318292bf8c. Erratum in: Pediatr Infect Dis J. 2013 Nov;32(11):1302. Liefse, Johannes [corrected to Liese, Johannes].

PMID:
23538514
11.

Familial selective IgA deficiency.

Nell PA, Ammann AJ, Hong R, Stiehm ER.

Pediatrics. 1972 Jan;49(1):71-9. No abstract available.

PMID:
4621770
12.

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4.

Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S.

J Pediatr. 2004 Nov;145(5):698-700.

PMID:
15520784
13.

MAPKAP kinase 2-deficiency prevents neurons from cell death by reducing neuroinflammation--relevance in a mouse model of Parkinson's disease.

Thomas T, Timmer M, Cesnulevicius K, Hitti E, Kotlyarov A, Gaestel M.

J Neurochem. 2008 Jun;105(5):2039-52. doi: 10.1111/j.1471-4159.2008.05310.x.

14.

Profound reduction of invariant natural killer T cells in the peripheral blood of a patient with interleukin-1 receptor-associated kinase 4 deficiency.

Haraguchi S, Day NK, Tangsinmankong N, Sleasman JW.

Immunol Lett. 2010 Aug 16;132(1-2):86-9. doi: 10.1016/j.imlet.2010.04.011.

PMID:
20441778
15.

Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome.

Raatikka M, Rapola J, Tuuteri L, Louhimo I, Savilahti E.

Pediatrics. 1981 Feb;67(2):173-5.

PMID:
7243440
16.

Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.

Loscalzo ML, Goh DL, Loeys B, Kent KC, Spevak PJ, Dietz HC.

Am J Med Genet A. 2007 Sep 1;143A(17):1960-7.

PMID:
17676603
17.

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Nehme NT, Pachlopnik Schmid J, Debeurme F, André-Schmutz I, Lim A, Nitschke P, Rieux-Laucat F, Lutz P, Picard C, Mahlaoui N, Fischer A, de Saint Basile G.

Blood. 2012 Apr 12;119(15):3458-68. doi: 10.1182/blood-2011-09-378364.

18.

TLR2- and TLR4-mediated signals determine attenuation or augmentation of inflammation by acute alcohol in monocytes.

Oak S, Mandrekar P, Catalano D, Kodys K, Szabo G.

J Immunol. 2006 Jun 15;176(12):7628-35.

19.

Interleukin receptor-associated kinase-4 deficiency impairs Toll-like receptor-dependent innate antiviral immune responses.

McDonald DR, Brown D, Bonilla FA, Geha RS.

J Allergy Clin Immunol. 2006 Dec;118(6):1357-62.

PMID:
17157666
20.

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.

PMID:
17460281
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