Sort   by:  
 Page size 
UnknownPRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Not available
S-EPMC4487867 | biostudies-literature
UnknownIdentification of microcephalin, a protein implicated in determining the size of the human brain.
Not available
S-EPMC419993 | biostudies-literature
UnknownHereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation.
Not available
S-EPMC11358312 | biostudies-literature
UnknownLACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages.
Not available
S-EPMC7901146 | biostudies-literature
UnknownMolecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Not available
S-EPMC4413937 | biostudies-literature
UnknownLife-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.
Not available
S-EPMC6170168 | biostudies-literature
UnknownReverse transcriptase inhibitors in Aicardi-Goutieres syndrome: A crossover clinical trial.
Not available
S-EPMC7617231 | biostudies-literature
UnknownHuman intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
Not available
S-EPMC4303590 | biostudies-literature
UnknownGain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Not available
S-EPMC4004585 | biostudies-literature
UnknownInsights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
Not available
S-EPMC7618534 | biostudies-literature
Sort   by:  
 Page size