Results 91 to 100 of about 2,267,031 (171)

Deciphering B cell Maturation Dynamics in Hyper-IgM Syndromes. [PDF]

J Clin Immunol
Üçler Çınar H, Cansever M, Erdem Ş, Arık A, Eken A.   +4 more
europepmc   +1 more source

Ichthyosis prematurity syndrome mimicking hyper-IgE syndrome due to a novel SLC27A4 variant. [PDF]

Pediatr Allergy Immunol
Akal C, Haskoloğlu ZŞ, İslamoğlu C, Süleyman M, Acar MO, Kutlay NY, Doğu EF, İkincioğulları KA.   +7 more
europepmc   +1 more source

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]

Genes (Basel)
Kumar V, de Saint-Aubain CJ, Konstantinov KN.   +2 more
europepmc   +1 more source

[Recurrent febrile episodes--normal, periodic fever syndrome or immunodeficiency?]

, 2006
Fever is one of the main symptoms leading to medical evaluation. Not only infections cause fever but also inflammatory disorders. To distinguish one from another, a thorough medical history and clinical evaluation are needed. Sometimes, only the clinical
Duppenthaler, A
core  

A nephritic puzzle: C3-dominant glomerulonephritis as a sentinel of hidden autoinflammatory disease. [PDF]

Pediatr Nephrol
Ward RC, Ferguson P, Rastogi P, Nester C, Sun H.   +4 more
europepmc   +1 more source

Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant. [PDF]

J Clin Immunol
Alroqi F, AlJaber AN, Althubaiti N, Al Tuwaijri A, Alzaaqi S, Barhoumi T, Almutairi A, Almuzzaini B, Alsayegh L, Nogoud M, Aljedaie M.   +10 more
europepmc   +1 more source

Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and Familial Mediterranean Fever (Fmf): new insight into heritable periodic fevers. [PDF]

Mol Genet Metab, 2013
Simon A, Drenth JP, Matern D, Goetzman ES, Hager EJ, Gibson KM.   +5 more
europepmc   +1 more source

Pulmonary alveolar proteinosis and <i>Pneumocystis jirovecii</i> infection in an infant with hyper-IgM syndrome caused by a novel <i>CD40LG</i> variant: a case report. [PDF]

Front Pediatr
Leclercq C, Olinger E, Caminoa A, Chatzis O, Dumitriu D, Froidure A, Smet J, Balbeur S, Corbisier T.   +8 more
europepmc   +1 more source

Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum. [PDF]

World J Clin Pediatr
Thangaraj A, Aggarwal R, Sarkar S, Pilania RK.   +3 more
europepmc   +1 more source

A multi-scale, circuit-to-gene signature of approach-bias modification in internet gaming disorder. [PDF]

J Behav Addict
Wang M, Fu J, Li S, Wei M, Dong GH.
europepmc   +1 more source