Table 2.
Characteristics of the RAG deficient patients
| Patients | Presentation | Gender | Age of manifestation (months) | Age at clinical diagnosis (months) |
Consanguinity | Family history |
Clinical symptoms |
Skin findings |
Cytopenia | Other autoimmune/inflammatory disease | Vaccine- related disease |
|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | SCID** | M | 2 | 6 | Yes | Yes | Diarrhea, pneumonia | No | No | HM and LAP | No |
| P2 † | SCID | M | 0 | 3.5 | Yes | Yes | Oral thrush, diarrhea, and RLRTI | No | No | HSM | No |
| P3 † | SCID | M | 1 | 1 | Yes | Yes | Pneumonia | Dermatitis | HA and ITP (after HSCT and DC–) | No | No |
| P4 | SCID | M | 4 | 7 | No | No | RLRTI, RURTI, skin abscess, oral thrush, diarrhea, and USI | Dermatitis | No | HM | No |
| P5 | SCID | M | 4 | 6 | Yes | Yes | Perianal abscess, diarrhea, and oral thrush | Dermatitis | No | HM and LAP | BCG lymphadenitis |
| P6 † | SCID | M | 1 | 6 | Yes | Yes | Oral thrush, diarrhea, pneumonia | No | No | No | No |
| P7 † | SCID | F | 1.5 | 5 | Yes | Yes | USI pneumonia | No | No | No | BCG lymphadenitis |
| P8 | SCID | M | 0.5 | 2 | Yes | Yes | oral thrush, diarrhea | No | ITP (6 years after HSCT) |
HM | No |
| P9 | SCID | F | 0 | 6 | No | No | RLRTI, skin abscess, oral thrush, diarrhea, aphthous stomatitis | SD | No | No | BCG lymphadenitis |
| P10 | SCID | F | 1 | 25 | Yes | No | RLRTI, skin abscess, oral thrush, and diarrhea | No | No | No | No |
| P11 | SCID | F | 1 | 10 | Yes | No | CMV retinitis, oral thrush, diarrhea, and pneumonia | Dermatitis | ITP (CMV) | HM, LAP | No |
| P12 | SCID | M | 3 | 5 | Yes | No | RLRTI and oral thrush | Whitish patches | No | HM | No |
| P13 | SCID | F | 1 | 3 | No* | No | Oral thrush and pneumonia | No | AIHA (6 months after HSCT) | No | No |
| P14 | SCID | M | 1 | 7 | Yes | No | RURTI, oral thrush, and aphthous stomatitis | DD | Leukopenia (bone marrow failure after HSCT) | HM | No |
| P15 | SCID | M | 2 | 3 | Yes | No | Oral thrush and diarrhea | No | No | HM | No |
| P16 * | SCID | M | 0 | 3 | Yes | Yes | Oral thrush, RLRTI, and RURTI | No | No | No | No |
| P17 * | SCID | M | 1 | 3 | Yes | Yes | Oral thrush and CMV pneumonia | No | No | No | No |
| P18 | SCID | M | 6 | 11 | Yes | Yes | RLRTI and RURTI | No | No | No | No |
| P19 | SCID | M | 2 | 2 | No | Yes | RLRTI | Dermatitis | No | No | No |
| P20 | SCID | M | 1.5 | 4 | Yes | No | RLRTI, oral thrush, diarrhea, and CMV retinitis | DD | No | No | No |
| P21 | SCID | M | 0.5 | 4 | Yes | Yes | Oral thrush and pneumonia | No | Pancytopenia (bone marrow failure, after HSCT) | No | BCG lymphadenitis |
| P22 | SCID | M | 2 | 3 | Yes | Yes | Diarrhea, pneumonia, oral thrush, and CMV pneumonia | DD | No | HM | No |
| P23 | SCID | F | 0.5 | 3 | Yes | Yes | Diarrhea and oral thrush | DD | No | HM | No |
| P24 | SCID | M | 0.66 | 1.5 | Yes | No | Pneumonia and USI | Dermatitis | No | No | No |
| P25 | SCID | M | 0 | 0.2 | No | Yes | DD | No | No | No | |
| P26 † | OS | F | 0.5 | 4.5 | Yes | Yes | Pneumonia and diarrhea | Ichthyosis and alopecia | No | HM | No |
| P27 † | OS | F | 2 | 2.5 | No | Yes | Pneumonia and diarrhea | Ichthyosis and alopecia | No | LAP | No |
| P28 | OS | F | 6 | 10 | Yes | No | Oral thrush, RURTI, and pneumonia | SD, alopecia, and nail dystrophia | No | HM | No |
| P29 | OS | F | 4 | 9.5 | Yes | No | Diarrhea, pneumonia, and oral thrush | SD | No | HM | No |
| P30 | OS | F | 2 | 2.5 | Yes | Yes | RLRTI, oral thrush, diarrhea, and CMV pneumonia | SD, alopecia, and DD | No | HSM | No |
| P31 * | CID | M | 7 | 78 | Yes | Yes | RLRTI, bronhiectasis, and CMV pneumonia | Warts | No | LAP | No |
| P32 * | CID | F | 36 | 62 | Yes | Yes | RLRTI | Warts and vitiligo | No | LAP | No |
| P33 | CID** | M | 0.25 | 10 | No | No | RLRTI, diarrhea, eczema, oral thrush, and CMV pneumonia | Granulomatous dermatitis | No | LAP | No |
| P34 | CID | M | 14 | 27 | Yes | No | Pneumonia, hemoptysis, and pulmonary hemosiderosis | Necrotic wounds | No | Necrotizan vasculitis | No |
| P35 | CID** | M | 18 | 19 | Yes | No | Candida cruzei pneumonia, RLRTI | No | No | Progressive neuropathy | No |
DC: direct coombs; DD: diaper dermatitis; HA: hemolytic anemia HM: hepatomegaly; HSM: hepatosplenomegaly; GIS: gastrointestinal; ITP: immune thrombocytopenic purpura; LAP: lymphadenopathy; RLRTI: recurrent lower respiratory tract infections; RURTI: recurrent upper respiratory tract infections; SD: Seborrheic dermatitis; USI: urinary system infections.
† Cousins: P2 and P3; P6 and P7; P26 and P27;*: siblings: P16 and P17; P31 and P32; P1, P33, and P35;**: Do not exactly fulfill the ESID criteria.