From: Assessment of autoantibodies in paediatric population with primary immunodeficiencies: a pilot study
Patient no. | Age (years) | Type of PID | Reported clinical symptoms and signs | Detected autoantibodies | IgG (mg/dl) | IRT | Family history of autoimmune diseases | Diagnosis of autoimmune disease |
---|---|---|---|---|---|---|---|---|
1 | 17 | PAD (selective IgA deficiency) | Hepatomegaly Splenomegaly | Anti-Sm = 67 kU/l Anti-SS-B = 0.92 kU/l | 1386 [680–1530] | No | No | Not confirmed |
2 | 13 | PAD (selective IgA deficiency) | Chronic diarrhoea | Anti-DGP = 1.4 kU/l | 1472 [518–1284] | No | Yes (coeliac disease) | CD—not confirmed with other tests |
3 | 6 | PAD (selective IgA deficiency) | Failure to thrive | Anti-TPO = 3.3 kU/l Anti-IF = 1.1 | 1296 [540–1822] | No | Yes (Hashimoto disease) | Not confirmed |
4 | 6 | PAD (selective IgA deficiency) | Failure to thrive | Anti-TPO = 4 kU/l Anti-TG = 0.53 kU/l | 1376 [553–1631] | No | Yes (Hashimoto disease) | Not confirmed |
5 | 8 | PAD (IgM deficiency) | Chronic diarrhoea Hepatomegaly | Anti-DGP = 7.4 kU/l Anti-tTG = 1.1 kU/l Anti-tTG IgA = 140 AU/ml | 823 [553–1631] | No | Yes (coeliac disease) | Confirmed CD |
6 | 4 | PAD (IgG subclass deficiency) | Chronic diarrhoea Failure to thrive Coeliac disease | Anti-DGP = 14 kU/l Anti-tTG = 1.1 kU/l Anti-tTG IgA = 1140 AU/ml | 480 [468–1150] | No | No | CD (diagnosed before the study) |
7 | 7 | PAD (IgG subclass deficiency) | Hypothyroidism Coeliac disease | Anti-TPO = 10 kU/l | 751 [553–1631] | No | Yes (psoriasis) | Under endocrinologist care |
8 | 9 | PAD (IgG subclass deficiency) | No | Anti-TPO = 3.4 kU/l | 826 [540–1822] | No | Yes (Hashimoto disease) | Not confirmed |
9 | 6 | PAD (IgG subclass deficiency) | Failure to thrive | Anti-TPO = 1.3 kU/l | 964 [553–1232] | No | No | Not confirmed |
10 | 15 | PAD (X-linked agammaglobulinemia) | No | Anti-TPO = 1.1 kU/l | 872 [518–1284] | Yes | Yes | Not confirmed |
11 | 11 | Ataxia-telangiectasia | No | Anti-TPO = 0.92 kU/l | 906 [553–1631] | Yes | No | Not confirmed |
12 | 10 | Lymphocyte T deficiency | Skin eczema | anti-Sm = 1.8 kU/l | 939 [553–1631] | No | Unknown | Not confirmed |
13 | 4 | Phagocyte number and/or function deficiency | No | Anti-TPO = 6.2 kU/l Anti-TG = 1 kU/l | 665 [468–1150] | No | Yes | Not confirmed |
14 | 3 | Other: lymphocyte T deficiency, chronic neutropenia | Papulovesicular eczema | Anti-DGP = 8.4 kU/l Anti-tTG IgA = 18.7 AU/ml | 1098 [540–1822] | No | No | Confirmed CD |