Case Report and literature review: X-linked severe combined immunodeficiency complicated by <i>Talaromyces marneffei</i> infection caused by a novel pathogenic <i>IL2RG</i> mutation. [PDF]
Front PediatrQing D, Lin L, Chen F, Peng J.
europepmc +1 more source
Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]
Front Med (Lausanne)Wang H, Xing W.
europepmc +1 more source
Unmasking the Silent Liver-Lung Connection: A Pediatric Hepatopulmonary Syndrome Case Report. [PDF]
Clin Pract Cases Emerg MedHaupt SA, Lalos D, Muntean C, Vaysman D.
europepmc +1 more source
Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant. [PDF]
Front PediatrLi N, Li W, Zhang H, Wang X.
europepmc +1 more source
Ruxolitinib combined with corticosteroids for the successful treatment of kawasaki disease-associated macrophage activation syndrome: a case report. [PDF]
Front PediatrWang X +5 more
europepmc +1 more source
Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center. [PDF]
Mol Genet Metab RepFarhan R +7 more
europepmc +1 more source
Wet purpura and petechiae in a 48-year-old man with immune thrombocytopenia. [PDF]
CMAJLang N, Chen R, Wu PE.
europepmc +1 more source
Recurrent and unusual infections unmasking a rare inborn error of immunity: a case report RAS-associated Autoimmune Lymphoproliferative Disease (RALD). [PDF]
BMC PediatrAhmad Shawaludin MQ +4 more
europepmc +1 more source