Results 171 to 180 of about 12,870 (263)

Molecular insight on the role of the phosphoinositide PIP3 in regulating the protein kinases Akt, PDK1, and BTK. [PDF]

Biochem Soc Trans
Shaw AL, Burke JE.
europepmc   +1 more source

Endocrine Disorders in Patients With Inborn Errors of Immunity. [PDF]

J Korean Med Sci
Noh ES, Kim DR, Im M, Kim I, Sung J, Ahn YJ, Shin A, Kim KR, Park H, Kim G, Jin SM, Hur KY, Kim J, Ahn K, Yoo KH, Cho SY, Kim YJ.   +16 more
europepmc   +1 more source

Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations. [PDF]

Front Immunol
Yilmaz M, Zmajkovicova K, Miller RZ, Blair G, Ellison M, Ujhazi B, Lopez MC, Dasso JF, Bledsoe JR, Csomos K, Maierhofer B, Badarau A, Pereira JP, Kanarek H, Geier CB, Walter JE.   +15 more
europepmc   +1 more source

136 Increased Pro-Inflammatory Cytokine Production After Lipopolysaccharide Stimulation in Patients with X-linked Agammaglobulinemia

, 2012
María Edith González Serrano, Gabriela López‐Herrera, Laura Berrón-Ruíz, I Garcia, Dolores Mogica Martínez, Sara Espinosa, Yamazaki-Nakashimada Marco Antonio, Alejandro González Garay, Alexander Vargas Hernández, Leopoldo Santos‐Argumedo, S A Parra, Francisco Espinosa‐Rosales   +11 more
openalex   +1 more source

Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia. [PDF]

BMC Infect Dis
Dai B, Han S, Shen Y, Li Z, Chen S, Wang Z, Yuan Y, Zhang R, Wang C, Zheng J, Liang Q, Wang Q, Zhang Y, Zhang X, Wang F, Jin Y.   +15 more
europepmc   +1 more source

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia [PDF]

Biomedica
Fernandes Pineda M, Zea-Vera AF.
europepmc   +1 more source

Cell-penetrating peptide-conjugated, splice-switching oligonucleotides mitigate the phenotype in <i>BTK</i>/<i>Tec</i> double deficient X-linked agammaglobulinemia model. [PDF]

RSC Chem Biol
Bestas B, Estupiñán HY, Wang Q, Kharazi S, He C, K Mohammad D, Gupta D, Wiklander OPB, Lehto T, Lundin KE, Berglöf A, Karlsson MCI, Abendroth F, El Andaloussi S, Gait MJ, Wood MJA, Leumann CJ, Stetsenko DA, Månsson R, Wengel J, Zain R, Smith CIE.   +21 more
europepmc   +1 more source

An Unusual Cause of Neonatal Infection: A Case Report of <i>Campylobacter coli</i> Meningitis and Sepsis. [PDF]

J Med Cases
Kapnisis D, Chatzigrigoriadis C, Koufopoulos E, Kolonitsiou F, Dimitriou G, Fouzas S, Eskitzis P, Lavasidis L, Anestakis D, Sperdouli D, Galiatsatos P, Gkentzi D.   +11 more
europepmc   +1 more source

Intrahepatic cholestasis in Bruton’s agammaglobulinemia receiving mesalamine for co-morbid Crohn’s disease

, 2014
Giovanni C. Actis, Rinaldo Pellicano, Floriano Rosina   +2 more
openalex   +2 more sources

A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia. [PDF]

Cureus
Syed Iqbaluddin J, Cipe F, Al-Hammadi S, Yavuz S, Francis N, Sherif A.   +5 more
europepmc   +1 more source