All patients presented similar cutaneous extensive and persistent cutaneous granuloma (Table 1) in the context of PID (ataxia-telangiectasia (n = 5), hypomorphic RAG deficiency (n = 2), activated phosphoinositide 3-kinase δ syndrome (n = 1), and combined immunodeficiency of unknown cause (n = 1). All patients received 1 or 2 injections of measles, mumps, and rubella vaccine during childhood. Skin granuloma developed 2–145 months after the first immunization (Table 1) In all patients, skin biopsy results confirmed the diagnosis of “nonsarcoidosis granuloma,” corresponding mainly to histiocyte and minor lymphocyte infiltration (Supplementary Figure S2). No infectious agent was identified by conventional methods (data not shown). Progressive multivisceral granuloma developed in 1 patient (see Case Report).
| Patient . | Sex . | Diagnosis . | CD3 Cell Count (Nadir, Cells/µL) or Other Cellular Immunodeficiency Markers . | Hypogammaglobulinemia . | Age at Vaccination, mo . | Age at Onset of Skin Lesions, mo . | Rubella RT-PCR and IHC Results (Sample Tissue; Age at Sampling, mo) . |
|---|---|---|---|---|---|---|---|
| 1a | F | Ataxia-telangiectasia | Low (1150) | Present | 16 | 18 | PCR positive (skin granuloma; 43); PCR positive (skin granuloma; 103); IHC positive (skin granuloma; 103); PCR positive (lymphomatous lymph node; 107) |
| 2a | M | Activated phosphoinositide 3-kinase δ syndromeb | Low CD4 naive cell count | Present | 13 and 67 | 132 | PCR positive (skin granuloma 131 and 180); IHC positive (skin granuloma; 180); PCR negative (healthy skin; 195) |
| 3a | F | Ataxia-telangiectasia | Low (672) | Present | 17 and 28 | 33 | PCR positive (skin granuloma; 59); PCR negative (healthy skin; 59) |
| 4 | F | Undefined combined immunodeficiency | Low CD4 naive and NK cell counts | Present | NA | NA | PCR positive (skin granuloma; 20) |
| 5 | M | RAG1 deficiency | Low (540) | Present | 13 and 18 | 30 | PCR positive (skin granuloma; 179); PCR and IHC positive (spleen granuloma; 198); PCR positive (skin granuloma; 200); PCR negative (healthy skin; 200) |
| 6 | F | Ataxia-telangiectasia | Low CD4 naive cell count | Present | 13 | 45 | PCR positive (skin granuloma; 78) |
| 7 | F | RAG2 deficiency | Low (418) | Present | 18 | 21 | PCR positive (skin granuloma; 35); PCR negative (healthy skin; 35) |
| 8 | M | Ataxia-telangiectasia | NA | Present | 8 and 13 | 24 | PCR positive (skin granuloma; 53) |
| 9 | M | Ataxia-telangiectasia | Low (773) | Present | 11 and 88 | 156 | PCR positive (skin granuloma; 196) |
| Patient . | Sex . | Diagnosis . | CD3 Cell Count (Nadir, Cells/µL) or Other Cellular Immunodeficiency Markers . | Hypogammaglobulinemia . | Age at Vaccination, mo . | Age at Onset of Skin Lesions, mo . | Rubella RT-PCR and IHC Results (Sample Tissue; Age at Sampling, mo) . |
|---|---|---|---|---|---|---|---|
| 1a | F | Ataxia-telangiectasia | Low (1150) | Present | 16 | 18 | PCR positive (skin granuloma; 43); PCR positive (skin granuloma; 103); IHC positive (skin granuloma; 103); PCR positive (lymphomatous lymph node; 107) |
| 2a | M | Activated phosphoinositide 3-kinase δ syndromeb | Low CD4 naive cell count | Present | 13 and 67 | 132 | PCR positive (skin granuloma 131 and 180); IHC positive (skin granuloma; 180); PCR negative (healthy skin; 195) |
| 3a | F | Ataxia-telangiectasia | Low (672) | Present | 17 and 28 | 33 | PCR positive (skin granuloma; 59); PCR negative (healthy skin; 59) |
| 4 | F | Undefined combined immunodeficiency | Low CD4 naive and NK cell counts | Present | NA | NA | PCR positive (skin granuloma; 20) |
| 5 | M | RAG1 deficiency | Low (540) | Present | 13 and 18 | 30 | PCR positive (skin granuloma; 179); PCR and IHC positive (spleen granuloma; 198); PCR positive (skin granuloma; 200); PCR negative (healthy skin; 200) |
| 6 | F | Ataxia-telangiectasia | Low CD4 naive cell count | Present | 13 | 45 | PCR positive (skin granuloma; 78) |
| 7 | F | RAG2 deficiency | Low (418) | Present | 18 | 21 | PCR positive (skin granuloma; 35); PCR negative (healthy skin; 35) |
| 8 | M | Ataxia-telangiectasia | NA | Present | 8 and 13 | 24 | PCR positive (skin granuloma; 53) |
| 9 | M | Ataxia-telangiectasia | Low (773) | Present | 11 and 88 | 156 | PCR positive (skin granuloma; 196) |
Abbreviations: IHC, immunohistochemistry for rubella virus; mo, months; NA, not available; NK, natural killer; PCR, polymerase chain reaction; RT, reverse-transcriptase.
a Cases report published in [5].
b Previously suspected to be Simpson-Golabi-Behmel syndrome.
| Patient . | Sex . | Diagnosis . | CD3 Cell Count (Nadir, Cells/µL) or Other Cellular Immunodeficiency Markers . | Hypogammaglobulinemia . | Age at Vaccination, mo . | Age at Onset of Skin Lesions, mo . | Rubella RT-PCR and IHC Results (Sample Tissue; Age at Sampling, mo) . |
|---|---|---|---|---|---|---|---|
| 1a | F | Ataxia-telangiectasia | Low (1150) | Present | 16 | 18 | PCR positive (skin granuloma; 43); PCR positive (skin granuloma; 103); IHC positive (skin granuloma; 103); PCR positive (lymphomatous lymph node; 107) |
| 2a | M | Activated phosphoinositide 3-kinase δ syndromeb | Low CD4 naive cell count | Present | 13 and 67 | 132 | PCR positive (skin granuloma 131 and 180); IHC positive (skin granuloma; 180); PCR negative (healthy skin; 195) |
| 3a | F | Ataxia-telangiectasia | Low (672) | Present | 17 and 28 | 33 | PCR positive (skin granuloma; 59); PCR negative (healthy skin; 59) |
| 4 | F | Undefined combined immunodeficiency | Low CD4 naive and NK cell counts | Present | NA | NA | PCR positive (skin granuloma; 20) |
| 5 | M | RAG1 deficiency | Low (540) | Present | 13 and 18 | 30 | PCR positive (skin granuloma; 179); PCR and IHC positive (spleen granuloma; 198); PCR positive (skin granuloma; 200); PCR negative (healthy skin; 200) |
| 6 | F | Ataxia-telangiectasia | Low CD4 naive cell count | Present | 13 | 45 | PCR positive (skin granuloma; 78) |
| 7 | F | RAG2 deficiency | Low (418) | Present | 18 | 21 | PCR positive (skin granuloma; 35); PCR negative (healthy skin; 35) |
| 8 | M | Ataxia-telangiectasia | NA | Present | 8 and 13 | 24 | PCR positive (skin granuloma; 53) |
| 9 | M | Ataxia-telangiectasia | Low (773) | Present | 11 and 88 | 156 | PCR positive (skin granuloma; 196) |
| Patient . | Sex . | Diagnosis . | CD3 Cell Count (Nadir, Cells/µL) or Other Cellular Immunodeficiency Markers . | Hypogammaglobulinemia . | Age at Vaccination, mo . | Age at Onset of Skin Lesions, mo . | Rubella RT-PCR and IHC Results (Sample Tissue; Age at Sampling, mo) . |
|---|---|---|---|---|---|---|---|
| 1a | F | Ataxia-telangiectasia | Low (1150) | Present | 16 | 18 | PCR positive (skin granuloma; 43); PCR positive (skin granuloma; 103); IHC positive (skin granuloma; 103); PCR positive (lymphomatous lymph node; 107) |
| 2a | M | Activated phosphoinositide 3-kinase δ syndromeb | Low CD4 naive cell count | Present | 13 and 67 | 132 | PCR positive (skin granuloma 131 and 180); IHC positive (skin granuloma; 180); PCR negative (healthy skin; 195) |
| 3a | F | Ataxia-telangiectasia | Low (672) | Present | 17 and 28 | 33 | PCR positive (skin granuloma; 59); PCR negative (healthy skin; 59) |
| 4 | F | Undefined combined immunodeficiency | Low CD4 naive and NK cell counts | Present | NA | NA | PCR positive (skin granuloma; 20) |
| 5 | M | RAG1 deficiency | Low (540) | Present | 13 and 18 | 30 | PCR positive (skin granuloma; 179); PCR and IHC positive (spleen granuloma; 198); PCR positive (skin granuloma; 200); PCR negative (healthy skin; 200) |
| 6 | F | Ataxia-telangiectasia | Low CD4 naive cell count | Present | 13 | 45 | PCR positive (skin granuloma; 78) |
| 7 | F | RAG2 deficiency | Low (418) | Present | 18 | 21 | PCR positive (skin granuloma; 35); PCR negative (healthy skin; 35) |
| 8 | M | Ataxia-telangiectasia | NA | Present | 8 and 13 | 24 | PCR positive (skin granuloma; 53) |
| 9 | M | Ataxia-telangiectasia | Low (773) | Present | 11 and 88 | 156 | PCR positive (skin granuloma; 196) |
Abbreviations: IHC, immunohistochemistry for rubella virus; mo, months; NA, not available; NK, natural killer; PCR, polymerase chain reaction; RT, reverse-transcriptase.
a Cases report published in [5].
b Previously suspected to be Simpson-Golabi-Behmel syndrome.
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