Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center

While awaiting these results, vigilance on the part of clinicians is warranted.\n6/1.3 NA Low IgG NA NA Normal Bacterial, fungal No No  Atopy (AR, asthma) 8 ETC I, II 10 5.7/3.5 NA Low IgA NA NA Normal Bacterial, viral No No  Autonomic dysfunction with small fiber neuropathy 9 ETC I 12 4.2/2.8 NA None Low antipneumococcal titers NA Normal Bacterial, fungal No No  Allergic rhinitis Table II Immune phenotyping, clinical history, and treatment of a subset of patients with a mitochondrial disorder with laboratory evidence of immune dysfunction AD, Atopic dermatitis; AI, autoimmunity; ALC, absolute lymphocyte count; AR, allergic rhinitis; EoE, eosinophilic esophagitis; ETC, electron transport chain; FA, food allergy; Hib, Haemophilus influenzae type B; IVIg, intravenous immunoglobulin; mtDNA, mitochondrial DNA; NA, not available; POLG, polymerase gamma; SCHADD, short-chain hydroxyl acyl-co A dehydrogenase efficiency; WBC, white blood cell.Vaccine response was assessed before IvIg treatment. Molecular diagnosis Published clinical syndrome No. affected No. with biochemical testing (no. with positive biochemical findings) mtDNA defects    tRNALeu, m.3243A>G MELAS 7 0 (0) tRNA Lys, m.8344A>G MERRF 5 0 (0) ATP synthase MT-ATP6 subunit, m.8993T>C NARP 2 0 (0) ETC I subunit ND6, m.14484T>C 1 with, 1 without clinical LHON phenotype 2 1 (1) tRNALeu m.12280A>G (homoplasmic); ETC I subunit ND1, m.42167T>C (heteroplasmic); ETC I subunit ND2, m.4917A>G (heteroplasmic) None 1 1 (1) tRNAPhe, m.606A>G; mtDNA depletion None 1 1 (1) mtDNA deletion Kearne-Sayre syndrome 1 1 (1) large mtDNA deletion MIDD 1 1 (1) mtDNA depletion with multiple ETC deficiencies None 2 2 (2) nDNA defects    WF1 point mutation (exact mutation not available) DIDMOAD/Wolfram syndrome 1 0 (0) POLG, p.G848S, p.A467T, p.G737R 1 SANDO, 1 MIRAS, 5 none 7 4 (3) ETC I NDUFAB subunit, exon 4, c.394G>T None 1 1 (1) ETC I NDUFV1 subunit, c.499del and c.365C->T None 1 1 (1) Table E1 Summary of the molecular diagnoses represented in the mitochondrial disorders cohort; 28 patients had molecular diagnoses, a subset of whom also had supporting biochemical data DIDMOAD, Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; ETC, electron transport chain; Leu, leucine; LHON, Leber hereditary optic neuropathy; Lys, lysine; MELAS, mitochondrial encephalomyopathy, lactic acidosis, leucine, lysine, and stroke-like episode; MERRF, myoclonic epilepsy with ragged red fiber; MIDD, maternally inherited diabe