Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Nonorgan specific systemic autoimmune disorders
4A43 Overlap or undifferentiated nonorgan specific systemic autoimmune disease
H02540 Infantile-onset multisystem autoimmune disease
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H02540 Infantile-onset multisystem autoimmune disease
Immune system
nt06537 TCR/BCR signaling
H02540 Infantile-onset multisystem autoimmune disease
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT
Title
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS
Title
Immune dysregulation caused by homozygous mutations in CBLB.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galao RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R, Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA
Title
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.