Table 1 (abstract P2033). See text for description
From: 10th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID)
Patient Profile | Diagnosis | Prominent clinical features | Age at Diagnosis (years) | Treatment | Outcome |
|---|---|---|---|---|---|
NOMID S,13 years F | NLRP3 C.913G>C, p.D305H (de novo mutation) | Fever, rash in infancy, bony overgrowth, headache Amyloidosis, misdiagnosed as JIA, | 13 years | Thalidomide | Doing well Symptomatically better |
NOMID K,11years M | NLRP3 p.Thr349Ile Parents negative (de novo mutation). Mosaicism | Crippling arthritis, Bed bound, amyloidosis | 11 years | Prednisolone | Died due to refractory renal failure secondary to amyloidosis |
K,8 years F | CAPS NLRP3 mutation | Diagnosed as steroid resistant nephrotic syndrome | 8 years | Prednisolone | Died |
TRAPS (n=2) M,4 years, F | TNFRSF1A p. Cys43Tyr Transmitted from father | Periodic fevers, subcutaneous swellings, rash, periorbital edema Father symptomatic | 4 years | Etanercept | Doing well on etanercept |
KD,35 years, F | TNFRSF1A p.Pro301His (Unreported VUS) | Fever, conjunctivitis, Pustular psoriasis with high Inflammatory markers | 6 years | Prenisolone cyclosporine | Partial control Intermittent flares of skin and fever |
DIRA (n=1) B/O V, 2months, F1 | IL1RN deletion, at chr2_hg19_113,865,011 and chr2_hg19_113,887,227 homozygous 22,216bp deletion spans the first four exons of IL1RN Parents carrier for same mutation (NM_173843) | Infant with multifocal osteitis, few pustules, | - | Anakinra* | Doing well |
S, 1.5 months, M | Result awaited | Multifocal osteitis involving humerus, clavicle, ribs | 1.5months | Prednisolone for 6 months | Doing well |
PAPA (n=1) M, 8 years F | PSTPIP1 gene p.Thr 68Met | Pyoderma, abscess, colitis, fever | 4 years | Prednisolone, Infliximab | Died |
APLAID (n=1) M, 3 years, F | PLCG2 exon 22 c.2393A>G p.Asn798Ser Heterozygous | Joint swelling, rash and bloody diarrhoea | 6 years | Prednisolone | Doing well Intermittent skin flares |