Background
Methods
Results
Case presentation
Parameters | Patient | Normal ranges |
---|---|---|
WBC × 103 (cell/uL) | 5.3 | 4.5–13.5 |
Hemoglobin (g/dL) | 7.7 | 11.5–15.5 |
Monocytes (cell/uL) | 0.5 | 0.2–0.8 |
Lymphocytes (cell/uL) | 1.5 | 1.3–6.5 |
Neutrophils (cell/uL) | 3.0 | 1.5–9.5 |
CD3+ T cells (% of lymphocytes) | 63.9% | 62.6–80.4 (%) |
CD4+ T cells (% of T cells) | 31.4% | 32.6–51.5 (%) |
CD8+ T cells (% of T cells) | 20.8% | 19.0–29.0 (%) |
CD19+ (% of lymphocytes) | 6.9% | 11.9–21.0 (%) |
CD16+ 56+ (% of lymphocytes) | 12.3% | 4.3–16.2 (%) |
IgG (mg/dL) | 2700 | 503–1719 |
IgA (mg/dL) | 425 | 42–295 |
IgM (mg/dL) | 360 | 41–255 |
IgE (IU/mL) | 100 | < 100 |
ESR (mm/first hour) | 125 | < 17 |
NBT (%) | 99 | > 80 |
C3 (IU/mL) | 110 | 88–206 |
C4 (IU/mL) | 38 | 13–75 |
CH50 (IU/mL) | 80 | 42–95 |
T cell response to BCG | 1.9 | > 2.5 |
T cell response to PHA | 3.1 | ≥3 |
T cell response to Candida | – | > 2.5 |
PPD | Negative | |
ANA | Negative | |
Anti-CCP | Negative | |
p-ANCA | Negative | |
c-ANCA | Negative |
Literature review
NO. | Mutated geneion site | Mutation type | sex | Con. | FH. | AOO (Mo) | BCG vaccination | BCG disease | LAP location | Salmonellosis | Candidiasis | Vasculitis | Vasculitis age (Y) | Other manifestations | Immunologic abnormality | treatment | outcome | country | Ref. |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | IL-12RB1 | r.783 + 1G > A | M | + | + | 60 | NV | – | Cervical,mesentric,mandibular | Sd | – | Leukocytoclastic vasculitis | UN | Bacteriemia, Acinetobacter adenitis | – | AB | Alive | Turkey | [20] |
P2 | IL-12RB1 | R173P | F | + | – | 2 | + | L | Axillary,submandibular,cervical,inguinal | Se,Sc | – | Leukocytoclastic vasculitis | 7.0 | Hepatosplenomagaly, mycobacterial abcess | – | AB,AM,INFG | Alive | Turkey | [21] |
P3 | IL-12RB1 | 557_563delins8 | F | UN | UN | UN | + | L | UN | St,Se,Stm | + | Vasculitis | UN | UN | UN | UN | Alive | Turkey | [22] |
P4 | IL-12RB1 | 783 + 1G > A | F | UN | + | UN | NV | – | UN | SD,SB | + | Leukocytoclastic vasculitis | UN | UN | UN | UN | Alive | Turkey | [22] |
P5 | IL-12RB1 | 783 + 1G > A | F | + | – | 8 | + | L | Axillary,submandibular | Se | + | Leukocytoclastic vasculitis | 1.83 | bacteriemia | Hypogammaglobulinemia | AB | Alive | Turkey | [10] |
P6 | IL-12RB1 | 1791 + 2 T > G | M | – | – | 4 | + | L | Axillary,cervical,peripheral | Se | – | Leukocytoclastic vasculitis | 0.58 | Hepatosplenomagaly, Bacteriemia | – | AB,AM | Alive | Tunisia | [23] |
P7 | IL-12RB1 | UN | M | + | + | 84 | UN | UN | Abdominal | St | – | Leukocytoclastic vasculitis | 7 | Splenomegaly, bacteriemia K. kristinae,skin rash, | Positive ANA,Coombs HIgA,HIgG Low CD4+, high CD8+ | AB | Alive | Israel | [24] |
P8 | IL-12RB1 | c.21G > A | M | – | – | 6 | + | L | Axillary | + | – | Leukocytoclastic vasculitis | 5 | Ankle arthritis,pytiriasis | Positive RF, Hypogammaglobulinemia | AB,AM | Alive | Brazil | [25] |
P9 | IL-12RB1 | c.1561C > T | UN | UN | UN | UN | UN | UN | UN | + | + | Leukocytoclastic vasculitis | UN | Disseminated histoplasmosis | UN | UN | UN | France | [11] |
P10 | IL-12RB1 | c.523C > T | F | – | – | 12 | + | L | Axillary | St,Stm | + | Leukocytoclastic vasculitis | UN | mycobacterial abcess | Low CD3+, Hypogammaglobulinemia | UN | Alive | Turkey | [26] |
P11 | IL-12RB1 | c.261C > A | M | + | – | 24 | UN | UN | Axillary, cervical, mesenteric | St | UN | Urticarial vasculitis | UN | Typhoid fever | Low CD4+, Low CD19+, HIgA | UN | Alive | Turkey | [26] |
P12 | IL-12RB1 | c.962C > A | M | + | + | 1 | + | L | UN | St | + | Leukocytoclastic vasculitis | UN | Hepatomegaly mycobacterial osteomyelitis, prolonged diarrhea,bacteriemia,IBD like lesions,AIHA | Positive ANA,Coombs | AB+AM+prednisolone | Alive | India | [3] |
P13 | IL-12RB1 | c.517C > T | M | + | + | UN | + | + | Bilateral | + | – | Henoc-Schönlein purpura | UN | Hepatosplenomagaly, liver abscess, osteomyelitis,seizure,meningitis due to TB | HIgG, hypo IgM | INFG | UN | Iran (Turk) | [27] |
P14 | IL-12RB1 | c.1791 + 2 T > G | F | + | UN | UN | + | + | Bilateral | – | + | Henoch-Schönlein purpura, Vasculitis | UN | Hepatosplenomagaly, severe diarrhea | HIgG, HIgA, HIgE | UN | UN | Iran (Fars) | [27] |
P15 | IL-12RB1 | UN | UN | UN | UN | UN | + | L | + | Se | UN | Vasculitis | 8 | UN | Positive RF, Hypogammaglobulinemia | AB,INFG, Glucocorticoids | Alive | Russia | [28] |
P16 | IL-12RB1 | c.783 + 1G > A | F | + | + | 9 | NV | – | + | + | + | Leukocytoclastic vasculitis | UN | UN | UN | UN | Alive | Turkey | [28] |
P17 | IFNGR2 | R114C | F | + | – | UN | + | D | Cervical | – | – | Disseminated skin vasculitis | 16 | Cellulitis, M. abscessus infection | UN | AB,AM,INFG | Alive | France | [29] |
P18 | IFNGR1 | 818del4 | F | UN | + | 78 | UN | UN | Cervical,inguinal | – | – | Henoc-Schönlein purpura | 6.7 | Lung abcess, liver abcess with E. faecium | UN | AB,AM,INFG | Alive | Norway | [30] |