Resources

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.

Bénédicte Neven

Source :

Pmid / DOI:

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Jean-Laurent CASANOVA

Source :

Pmid / DOI:

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Alain Hovnanian

Source :

Pmid / DOI:

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Laurent Abel , Jean-Laurent CASANOVA , Emmanuelle Jouanguy

Source :

Pmid / DOI:

Scratching Beneath the Surface: Linking Skin Pathology with Food Allergy.

Nadine CERF-BENSUSSAN

Source :

Pmid / DOI:

Cerebral blood flow changes after radiation therapy identifies pseudoprogression in diffuse intrinsic pontine gliomas.

Nathalie Boddaert, Ana Saitovitch, Monica Zilbovicius

Source :

Pmid / DOI:

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Benedetta RUZZENENTE, Arnold Munnich, Agnès Rötig, Metodi METODIEV

Source :

Pmid / DOI:

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Rima NABBOUT

Source :

Pmid / DOI:

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

Jacinta Bustamante

Source :

Pmid / DOI:

Extensive multilineage analysis in patients with mixed chimerism after allogeneic transplantation for sickle cell disease: insight into hematopoiesis and engraftment thresholds for gene therapy.

Marina Cavazzana

Source :

Pmid / DOI:

Somatic genetic rescue in Mendelian haematopoietic diseases.

Patrick Revy, Alain Fischer

Source :

Pmid / DOI:

The Benefits of Tubular Proteinuria: An Evolutionary Perspective.

Matias Simons

Source :

Pmid / DOI:

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

Jean-Laurent CASANOVA

Source :

Pmid / DOI:

Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Recessive Dystrophic Epidermolysis Bullosa in a Xenograft Model.

Alain Hovnanian

Source :

Pmid / DOI:

Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Recessive Dystrophic Epidermolysis Bullosa in a Xenograft Model.

Source :

Pmid / DOI: