Clinical features of patients with PGM3 deficiency
| P# . | Kindred code . | Age at last follow-up, sex . | PGM3 variants . | Atopy . | Oto-sino-pulmonary infections . | Mucocutaneous viral infections . | Neurocognitive impairments . | Skeletal abnormality . | Chronic neutropenia . | Clinical autoimmunity . | Malignancy . | Others . | NIH HIES score . | HSCT . | Outcomes . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | I.1a | 47, M | Compound heterozygous, c.1585G>C, p.Glu529Gln; c.1438_1442del, p.Leu480SerfsTer10 | Atopic dermatitis | Recurrent, c/b bronchiectasis | No | Yes | Scoliosis, degenerative disc disease | No | MPGN (failed kidney transplantation, on dialysis), cutaneous leukocytoclastic vasculitis | No | Nonischemic cardiomyopathy | 36 | No | Alive |
| 2 | I.2 | 41, F | Atopic dermatitis, food allergy | Recurrent, c/b bronchiectasis | No | Yes | Scoliosis, degenerative disc disease | Yes | Cutaneous leukocytoclastic vasculitis | EBV-positive DLBCL | Chronic norovirus infection | 39 | No | Died | |
| 3 | I.3 | 37, M | Atopic dermatitis, food allergy, eosinophilic esophagitis | Recurrent, c/b bronchiectasis | Molluscum contagiosum, HSV-1 infection (skin, mouth, and eye) | Yes | Scoliosis | Yes | Cutaneous leukocytoclastic vasculitis | EBV-positive Hodgkin lymphoma, DLBCL | | 43 | No | Died | |
| 4 | I.4 | 42, M | Atopic dermatitis, food allergy, eosinophilic esophagitis | Recurrent, c/b bronchiectasis | Molluscum contagiosum, HSV-1 infection (skin) | Yes | Scoliosis | No | MPGN, cutaneous leukocytoclastic vasculitis | EBV-positive Hodgkin lymphoma; right eye SCC | | 40 | No | Died | |
| 5 | II.1 | 24, M | Homozygous, c.975T>G, p.Asp325Glu | Atopic dermatitis, food allergy, allergic bronchopulmonary aspergillosis | Recurrent, c/b bronchiectasis | No | Yes | Scoliosis | Yes (with positive anti-neutrophil antibody) | Psoriasis | No | | 42 | No | Alive |
| 6 | II.2 | 18, M | Atopic dermatitis, food allergy | Recurrent | Verruca plana | Yes | Scoliosis | Yes | No | No | Coombs-negative hemolytic anemia | 38 | No | Died | |
| 7 | II.3 | 13, M | Atopic dermatitis, food allergy, allergic fungal otomastoiditis | Recurrent | HSV-1 (mouth) | Yes | No | Yes | No | No | | 33 | Yes | Alive | |
| 8 | III.1 | 11, F | Homozygous, c.982G>A, p.Ala328Thr | Atopic dermatitis, food allergy | Recurrent | No | No | No | Yes | No | No | | 8 | No | Alive |
| 9 | IV.1 | 6, M | Compound heterozygous, c.1592C>T, p.Ala531Val; c.620C>G, p.Ser207Ter | Atopic dermatitis, food allergy | No | Molluscum contagiosum | No | End-plate irregularity | No | No | No | | 12 | No | Alive |
| 10 | IV.2 | 8, F | Atopic dermatitis, food allergy | Recurrent | Molluscum contagiosum | No | End-plate irregularity | Yes | No | No | | 16 | Yes | Alive |
| P# . | Kindred code . | Age at last follow-up, sex . | PGM3 variants . | Atopy . | Oto-sino-pulmonary infections . | Mucocutaneous viral infections . | Neurocognitive impairments . | Skeletal abnormality . | Chronic neutropenia . | Clinical autoimmunity . | Malignancy . | Others . | NIH HIES score . | HSCT . | Outcomes . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | I.1a | 47, M | Compound heterozygous, c.1585G>C, p.Glu529Gln; c.1438_1442del, p.Leu480SerfsTer10 | Atopic dermatitis | Recurrent, c/b bronchiectasis | No | Yes | Scoliosis, degenerative disc disease | No | MPGN (failed kidney transplantation, on dialysis), cutaneous leukocytoclastic vasculitis | No | Nonischemic cardiomyopathy | 36 | No | Alive |
| 2 | I.2 | 41, F | Atopic dermatitis, food allergy | Recurrent, c/b bronchiectasis | No | Yes | Scoliosis, degenerative disc disease | Yes | Cutaneous leukocytoclastic vasculitis | EBV-positive DLBCL | Chronic norovirus infection | 39 | No | Died | |
| 3 | I.3 | 37, M | Atopic dermatitis, food allergy, eosinophilic esophagitis | Recurrent, c/b bronchiectasis | Molluscum contagiosum, HSV-1 infection (skin, mouth, and eye) | Yes | Scoliosis | Yes | Cutaneous leukocytoclastic vasculitis | EBV-positive Hodgkin lymphoma, DLBCL | | 43 | No | Died | |
| 4 | I.4 | 42, M | Atopic dermatitis, food allergy, eosinophilic esophagitis | Recurrent, c/b bronchiectasis | Molluscum contagiosum, HSV-1 infection (skin) | Yes | Scoliosis | No | MPGN, cutaneous leukocytoclastic vasculitis | EBV-positive Hodgkin lymphoma; right eye SCC | | 40 | No | Died | |
| 5 | II.1 | 24, M | Homozygous, c.975T>G, p.Asp325Glu | Atopic dermatitis, food allergy, allergic bronchopulmonary aspergillosis | Recurrent, c/b bronchiectasis | No | Yes | Scoliosis | Yes (with positive anti-neutrophil antibody) | Psoriasis | No | | 42 | No | Alive |
| 6 | II.2 | 18, M | Atopic dermatitis, food allergy | Recurrent | Verruca plana | Yes | Scoliosis | Yes | No | No | Coombs-negative hemolytic anemia | 38 | No | Died | |
| 7 | II.3 | 13, M | Atopic dermatitis, food allergy, allergic fungal otomastoiditis | Recurrent | HSV-1 (mouth) | Yes | No | Yes | No | No | | 33 | Yes | Alive | |
| 8 | III.1 | 11, F | Homozygous, c.982G>A, p.Ala328Thr | Atopic dermatitis, food allergy | Recurrent | No | No | No | Yes | No | No | | 8 | No | Alive |
| 9 | IV.1 | 6, M | Compound heterozygous, c.1592C>T, p.Ala531Val; c.620C>G, p.Ser207Ter | Atopic dermatitis, food allergy | No | Molluscum contagiosum | No | End-plate irregularity | No | No | No | | 12 | No | Alive |
| 10 | IV.2 | 8, F | Atopic dermatitis, food allergy | Recurrent | Molluscum contagiosum | No | End-plate irregularity | Yes | No | No | | 16 | Yes | Alive |
M, male; F, female; c/b, complicated by; MPGN, membranoproliferative glomerulonephritis; DLBCL, diffuse large B cell lymphoma; SCC, squamous cell carcinoma; HIES, hyper-IgE syndrome.
Kindred I includes five clinically affected individuals, with I.3 and I.4 being identical twins. One of them (i.e., the eldest daughter), who was labeled as I.5 in our prior publication (2), had a compatible clinical phenotype based on outside records. She deceased at age 27 before our evaluation of the family. As no genetic material was available to confirm the PGM3 variants, she is not included in the current table.