Background
CECR1 gene
Mutation | Exon | HGVS sequence name | Aminoacid substitution | N° of patients | Enzymatic domain |
---|---|---|---|---|---|
M1T | 2 | c.2 T > C | Met1Thr | 1 in compound heterozygosis | Signal peptide |
K13del | 2 | c.37_39del | 37_39del | 2 in compound heterozygosis | Signal peptide (?) |
28-kb-deletion | 2 | deletion | deletion | 1 in compound heterozygosis | 5′UTR (5′untranslated region) |
G47R | 2 | c.139G > A | Gly47Arg | 27 in homozygosis | Dimerization |
1 in compound heterozygosis | |||||
G47A | 2 | c.140G > C | Gly47Ala | 2 in compound heterozygosis | Dimerization |
G47V | 2 | c.140G > T | Gly47Val | 1 in compound heterozygosis | Dimerization |
I93T | 2 | c.278 T > C | Ile93Thr | 1 in compound heterozygosis | Dimerization |
A109D | 3 | c.326C > A | Ala109Asp | 1 in compound heterozygosis | Catalytic |
H112Q | 3 | c.336C > G | His112Gln | 1 in compound heterozygosis | Catalytic |
T119A | 3 | c.355A > G | Thr119Ala | 4 in compound heterozygosis | Catalytic |
G142S | 3 | c.424G > A | Gly142Ser | 4 in compound heterozygosis | Catalytic |
R169Q | 3 | c.506G > A | Arg169Gln | 15 in homozygosis | PBR (putative receptor-binding) |
9 in compound heterozygosis | |||||
P193L | 4 | c.578C > T | Pro193Leu | 1 in compound heterozygosis | Catalytic (?) |
M243R | 4 | NA | Met243Arg | 2 in compound heterozygosis | Catalytic |
P251L | 4 | c.752C > T | Pro251Leu | 4 in compound heterozygosis | Catalytic |
W264S | 5 | c.791G > C | Trp264Ser | 1 in compound heterozygosis | Catalytic |
R306* | 6 | c.916C > T | p.Arg306* | 1 in compound heterozygosis | Catalytic (?) |
N328K | 7 | c.1159C > A | Cys1159Arg | 2 in compound heterozygosis | Catalytic |
Y453C | 9 | c.1358A > G | Tyr453Cys | 3 in compound heterozygosis | Catalytic |
ADA2 protein and pathogenetic mechanisms
Clinical manifestations
Report |
CECR1
Mutation | Ethnicity | Age at onset | Fever | Skin | CNS/PNS | Gastro-intestinal | Immune/Hematologic system | ANA | ANCA | Hypertension | Other | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Navon et al. | 1 | G47R/G47R | Georgian | 2 m | Yes | Ulcerations at extremities | No | Intestinal necrosis | No | neg | neg | Yes | Coronary aneurysms |
2 | G47R/G47R | Georgian | 5 y | No | Livedo reticularis, nodules, purpuric rash | No | Intestinal vasculitis | No | neg | neg | No | No | |
3 | G47R/G47R | Georgian | 7 m | Yes | Livedo reticularis, papulo-nodular rash, Raynaud’s phenomenon | Ischemic stroke, peripheral paresis of cranial nerves | No | No | neg | neg | Yes | Arthritis | |
4 | G47R/G47R | Georgian | 3,5 y | Yes | Livedo reticularis, nodules, purpuric rash, erythema nodosum | Cranial nerve paralysis | No | No | pos | ND | No | No | |
5 | G47R/G47R | Georgian | 2,5 y | No | Maculopapular rash, nodules | Neurosensorial hearing loss | No | No | neg | neg | No | Arthritis | |
6 | G47R/G47R | Georgian | 2 m (died at 9 m) | Yes | Digital necrosis | Ventricular haemorrhage | Aneurism of celiac artery | No | neg | neg | No | No | |
7 | G47R/G47R | Georgian | 2 m | Yes | Livedo reticularis, Raynaud’s phenomenon | No | Abdominal pain | No | neg | ND | No | No | |
8 | G47R/G47R | Georgian | 6,5 y | Yes | Livedo reticularis, nodules, Raynaud’s phenomenon | No | Abdominal pain | No | neg | neg | No | No | |
9 | G47R/G47R | Georgian | 9 y | No | Livedo reticularis | No | No | No | neg | neg | No | No | |
10 | G47R/G47R | Georgian | 10 y | No | Livedo reticularis, nodules, Raynaud’s phenomenon, leg ulcers | No | No | No | neg | neg | No | No | |
11 | G47R/G47R | Georgian | 59 y | No | Leg ulcers | No | No | No | neg | ND | No | No | |
12 | G47R/G47R | Georgian | childhood (died at 30 y) | No | Livedo reticularis, nodules, Raynaud’s phenomenon, leg ulcers with amputation | No | No | No | ND | ND | No | No | |
13 | G47R/G47R | Georgian | 1 y | No | Livedo reticularis, nodules, Raynaud’s phenomenon | Sensitive polyneuropathy | No | No | neg | neg | No | No | |
14 | G47R/G47R | Georgian | 4 y | Yes | Livedo reticularis, purpuric rash, skin nodules. | No | No | No | pos | ND | No | No | |
15 | G47R/G47R | Georgian | 1 y | Yes | Livedo reticularis | No | Abdominal pain | No | neg | neg | Yes | Mesenteric and renal infarcts | |
16 | G47R/G47R | Georgian | 18 y | No | No | No | No | No | neg | neg | No | No | |
17 | G47R/G47R | Georgian | 28 y | Yes | Raynaud’s phenomenon, purpuric rash, leg ulcers with digital amputation | Polyneuropathy | No | No | neg | neg | Yes | Panniculitis | |
18 | G47R/G47R | Georgian | 2 y | No | Skin nodules | Polyneuropathy | No | No | neg | neg | No | No | |
19 | G47R/G47R | Georgian | 16 y | No | Raynaud’s phenomenon, ulceration of extremities | No | No | No | pos | neg | Yes | No | |
20 | R169Q/P251L | European Caucasian | 1 y | Yes | Livedo reticularis | Ischemic stroke, cranial nerves (II,VI,VII) paralysis | No | No | neg | ND | Yes | No | |
21 | R169Q/P251L | European Caucasian | 12 y | No | No | Ischemic stroke, VII cranial nerve paralysis | No | No | pos | neg | No | No | |
22 | R169Q/P251L | European Caucasian | 1 y | No | Livedo reticularis, skin rash at extremities | Ischemic stroke VI cranial nerve paralysis, neurosensorial hearing loss | No | No | neg | neg | No | No | |
23 | R169Q/P251L | European Caucasian | 3 m | No | Livedo reticularis, vasculitic exanthema of lower extremities | VII cranial nerve paralysis | No | No | ND | ND | No | Epididymitis | |
24 | G47V/W264S | Turkish | 10 y | Yes | Livedo reticularis | No | No | No | neg | ND | Yes | Myalgia, abdominal and renal aneurysm | |
Zhou et al. | 1 | A109D/Y453C | European Caucasian | 2 y | Yes | Livedo reticularis | Ischemic stroke | Splenomegaly | No | pos | neg | No | No |
2 | G47A/Y453C | European Caucasian | 1 y | Yes | Livedo reticularis, erythematous and urticarial rash | Ischemic and haemorrhagic strokes | Hepatomegaly, splenomegaly. Portal hypertension. | Pancytopenia, hypoIg | pos | neg | No | No | |
3 | R169Q/deletion | European Caucasian | 1,5 y | Yes | Livedo reticularis, urticarial rash | Ischemic and haemorrhagic strokes | Hepatomegaly, splenomegaly, chronic gastritis | Leucopoenia, hypoIg | neg | neg | No | No | |
4 | G47A/H112Q | European Caucasian | 5 m | Yes | Livedo reticularis, urticarial rash | Ischemic and haemorrhagic strokes | Hepatomegaly, splenomegaly, portal hypertension. | Pancytopenia, HypoIg | neg | neg | No | No | |
5 | R169Q/Y453C | European Caucasian | 1,5 y | Yes | Livedo reticularis | Ischemic stroke | Hepatomegaly, splenomegaly. | Leucopoenia, hypoIg | neg | neg | No | No | |
6 | M1T/I93T | European Caucasian | 1,5 y (died 16 y) | Yes | Non-Langerhans cell histiocytosis | Ischemic stroke | Hepatomegaly, splenomegaly. portal hypertension. | No | neg | neg | Yes | Evans syndrome | |
7 | G47R/G47R | Turkish | 3,5 y | Yes | Livedo reticularis, erythema nodosum | Ischemic stroke III cranial nerve paralysis | No | No | neg | neg | No | No | |
8 | G47R/G47R | Tukish | 4 y | Yes | Livedo reticularis, erythema nodosum | Ischemic stroke | Bowel perforation | No | neg | neg | No | Macrophage activation syndrome | |
9 | G47R/G47R | Turkish | 9 y (died 22 y) | Yes | Livedo reticularis, ulceration of extremities | No | Hepatomegaly, splenomegaly | Leucopoenia | pos | neg | No | Renal amyloidosis, necrotising pneumonia | |
van Montfrans et al. | 1 | R169Q/R169Q | NA | 6 m | No | Livedo reticularis | No | Hepatomegaly, splenomegaly | Granulocytopenia, red-cell aplasia | NA | NA | No | No |
2 | R169Q/R169Q | NA | 6 y | Yes | Livedo reticularis | Stroke | Hepatomegaly, splenomegaly | HypoIg, lymphopenia | NA | NA | No | No | |
Bras et al. | 1 | T119A/G142S | European Caucasian | >10 y | Yes | Livedo reticularis, ulcerations of extremities | Stroke | No | No | NA | NA | No | No |
2 | T119A/G142S | European Caucasian | >10 y | Yes | Livedo reticularis, ulcerations of extremities | Stroke | No | No | NA | NA | No | No | |
3 | T119A/G142S | European Caucasian | >10 y | Yes | Livedo reticularis, ulcerations of extremities | Stroke | No | No | NA | NA | No | No | |
4 | T119A/G142S | European Caucasian | >10 y | Yes | Livedo reticularis, ulcerations of extremities | Stroke | No | No | NA | NA | No | No | |
Van Eyck et al. | 1 | G47R/G47R | NA | 5 y | Yes | No | No | Splenomegaly | Lymphadenopathy, anaemia, thrombocytosis | NA | NA | No | |
Garg et al. | 1 | G47R/R306* | Turkish | 1,5 y (died 5 y) | Yes | Skin rash | Hemorrhagic and ischemic stroke. intraparenchymal haemorrhage | No | No | neg | neg | No | Acute respiratory distress syndrome |
Van Eyck et al. | 1 | R169Q/R169Q | African/ Caucasian | 6 m | No | No | Haemorrhagic stroke | Splenomegaly | Pancytopenia, hypoIg, lymphadenopathy, recurrent viral infections | NA | NA | No | No |
2 | R169Q/R169Q | African/ Caucasian | 5 m | No | No | TIA | Bowel perforation (ulcerative bowel disease, no signs of vasculitis) | Leucopoenia, hypoIg, lymphadenopathy, recurrent viral infections | NA | NA | No | No | |
Belot et al. | 1 | R169Q/P193L | European Caucasian | First year | Yes | Livedo reticularis, ulceration of extremities | TIA, ischemic stroke, sensitive polyneuropathy, intracerebral haemorrhage. | Bowel stenosis | HypoIg | neg | neg | No | Oral aphtae |
2 | G47R/G47R | Asian | 1 m | Yes | Erythema nodosum, vasculitic rash | Intracerebral haemorrhage, Ischemic stroke, Optic neuritis | No | No | NA | NA | Yes | Dactylitis, aneurysm of abdominal vessels | |
Westendorp et al. | 1 | R169Q/R169Q | European Caucasian | 3 y | No | Livedo reticularis, nodules | Ischemic stroke, peripheral neuropathy neurosensorial hearing loss | No | No | NA | NA | No | No |
2 | R169Q/R169Q | European Caucasian | 2 y | No | Livedo reticularis | Ischemic stroke | No | No | NA | NA | No | Autism | |
Gonzales Santiago et al. | 1 | K13del/N328K | European Caucasian | 2 y | Yes | Livedo racemosa | No | No | HypoIg | NA | neg | No | No |
2 | K13del/N328K | European Caucasian | 5 y | No | Nodules, erytema of lower extremities | No | No | HypoIg, recurrent infections | NA | NA | No | No | |
Batu et al. | 1 | G47R/G47R | Turkish | 6,5 y | Yes | Livedo reticularis, | No | Abdominal pain | No | NA | NA | No | No |
2 | G47R/G47R | Turkish | 4 y | Yes | Livedo reticularis, erythema nodosum, necrotic ulcers | Stroke | Abdominal pain, hypertransaminasemia | No | pos | NA | Yes | Glomerulosclerosis | |
3 | G47R/G47R | Turkish | 10 y | Yes | Livedo reticularis | No | Abdominal pain | No | NA | NA | No | No | |
Van Montfrans et al. | 1 | R169Q/R169Q | European Caucasian | 1 y | Yes | Livedo reticularis, erythema nodosum, eczema, Raynaud phenomenon | Ischemic stroke, III cranial nerve paralysis | Abdominal pain, hepatomegaly | Adenopathy, hypoIg, pancytopenia | neg | neg | No | Oral aphtae, arthralgia GH deficiency |
2 | R169Q/R169Q | European Caucasian | Birth | No | Livedo reticularis, eczema | No | Abdominal pain, hepatomegaly, splenomegaly | HypoIg, anaemia | ND | ND | No | Jugular vein thrombosis, GH deficiency | |
3 | R169Q/R169Q | European Caucasian | 6 y | No | Livedo reticularis, ulceration of extremities and trunk | No | Hepatomegaly, splenomegaly | Adenopathy, anaemia | neg | neg | No | No | |
4 | R169Q/R169Q | European Caucasian | 3 y | No | Livedo racemosa, erythema nodosum, Raynaud phenomenon | Ischemic stroke, VI cranial nerve paralysis | Hepatomegaly, splenomegaly | HypoIg, recurrent infections, anaemia | neg | neg | No | No | |
5 | R169Q/R169Q | European Caucasian | 1y | No | Eczema | Ischemic stroke, IV cranial nerve paralysis | Splenomegaly | HypoIg, anaemia, leucopoenia | neg | ND | No | Autism | |
6 | R169Q/R169Q | European Caucasian | 9 m | Yes | Eczema | Ischemic stroke, IV cranial nerve paralysis | Abdominal pain, hepatomegaly, splenomegaly | HypoIg, pancytopenia | pos | pos | Yes | Oral aphtae, arthralgia | |
7 | R169Q/R169Q | European Caucasian | 8 y | Yes | Rash | Ischemic stroke, III cranial nerve paralysis | Abdominal pain, acute liver failure | HypoIg, recurrent infections, anaemia,lymphopenia | neg | neg | No | Oral aphtae, arthralgia | |
8 | R169Q/R169Q | African/Caucasian | 6 m | No | Eczema | Intracranial haemorrhage | Hepatomegaly, splenomegaly | HypoIg, adenopath, thrombocytopenia, leucopoenia | neg | neg | No | No | |
9 | R169Q/R169Q | African/Caucasian | 5 m | No | No | No | Bowel ulcerations, colitis, hepatomegaly, splenomegaly | HypoIg, recurrent infections, adenopathy | neg | neg | No | No | |
Fellmann et al. | 1 | Homozygous 22q11.1 deletion (IL17RA and CECR1) | Asian | Birth (Died 16 y) | No | Ichthyosiform rash, oro-vaginal ulcerations | No | No | Recurrent infection (C. Albicans, S. aureus), neutropenia | neg | neg | No | Chronic systemic inflammation, failure to thrive |
2 | Homozygous 22q11.1 deletion (IL17RA and CECR1) | Asian | 2 y | No | Ichthyosiform rash | No | Splenomegaly | Oro-vaginal candidiasis, Staphylococcal skin infections | neg | neg | No | Retinal vasculitis | |
Schepp et al. | 1 | R169Q/ M243R | NA | 18 y | No | No | No | Splenomegaly | HypoIg, recurrent respiratory infections | NA | NA | No | Arthralgia |
2 | R169Q/M243R | NA | 2 m (Died 17 y) | Yes | Erythema nodosum | Intracranial haemorrhage | Splenomegaly | HypoIg, lymphopenia, recurrent urinary tract and respiratory infections | neg | NA | No | Arthritis Failure to thrive. |
Mutation | Exon | N° of patients | Associated symptoms (% of patients) |
---|---|---|---|
M1T | 2 | 1 in heterozygosis | Fever Skin: Non-Langerhans cell histiocytosis CNS/PNS: ischemic stroke Visceral: involvement: hepatomegaly, splenomegaly. portal hypertension, hypertension (100 %) |
K13del | 2 | 2 in heterozygosis | Fever (50 %) Skin: Livedo racemosa (50 %), skin nodules (50 %) Immune/hematologic system: hypogammaglobulinemia (100 %), recurrent infections (50 %) |
28-kb-deletion | 2 | 1 in heterozygosis | Fever Skin: Livedo reticularis, urticarial rash CNS/PNS: ischemic and haemorrhagic strokes Visceral involvement: hepatomegaly, splenomegaly. chronic gastritis Immune/hematologic system: leukopenia, hypogammaglobulinemia (100 %) |
G47R | 2 | 27 in homozygosis | Fever (64 %) Skin: Livedo reticularis (60 %), skin nodules (35 %), ulcerations at extremities/digital necrosis (32 %), Raynaud’s phenomenon (28 %), purpuric/vasculitic rash (18 %), erythema nodosum (18 %), panniculitis (3 %) CNS/PNS: ischemic stroke (21 %), hemorrhagic stroke (7 %), intracranial haemorrhage (11 %), cranial nerve paralysis (14 %), polineuropathy (11 %), neurosensorial hearing loss (3 %). Visceral involvement: abdominal pain (21 %), intestinal vasculitis (14 %), hepatomegaly (3 %), splenomegaly (7 %), hypertransaminasemia (3 %), hypertension (25 %). Immune/hematologic system: Leucopoenia (3 %), anaemia (3 %), lymphadenopathy (3 %). |
1 in heterozygosis | |||
G47A | 2 | 2 in heterozygosis | Fever (100 %) Skin: Livedo reticularis (100 %), urticarial rash (100 %) CNS/PNS: ischemic and haemorrhagic strokes (100 %) Visceral involvement: hepatomegaly (100 %), splenomegaly (100 %), portal hypertension (100 %) Immune/hematologic system: Pancytopenia (100 %), hypogammaglobulinemia (100 %). |
G47V | 2 | 1 in heterozygosis | Fever Skin: Livedo reticularis Visceral involvement: hypertension, abdominal and renal aneurysm (100 %). |
I93T | 2 | 1 in heterozygosis | Fever Skin: Non-Langerhans cell histiocytosis CNS/PNS: ischemic stroke Visceral: involvement: hepatomegaly, splenomegaly. portal hypertension, hypertension (100 %) |
A109D | 3 | 1 in heterozygosis | Fever Skin: Livedo reticularis CNS/PNS: ischemic stroke Visceral involvement: splenomegaly (100 %). |
H112Q | 3 | 1 in heterozygosis | Fever Skin: Livedo reticularis, urticarial rash CNS/PNS: ischemic and haemorrhagic strokes Visceral involvement: hepatomegaly, splenomegaly, portal hypertension Immune/hematologic system: Pancytopenia, hypogammaglobulinemia (100 %). |
T119A | 3 | 4 in heterozygosis | Fever (100 %) Skin: Livedo reticularis, ulceration of extremities (100 %) CNS/PNS: ischemic and haemorrhagic strokes (100 %) |
G142S | 3 | 4 in heterozygosis | Fever (100 %) Skin: Livedo reticularis, ulceration of extremities (100 %) CNS/PNS: ischemic and haemorrhagic strokes (100 %) |
R169Q | 3 | 15 in homozygosis | Fever (37 %) Skin: Livedo reticularis (58 %), skin nodules (4 %), ulcerations at extremities/digital necrosis (8 %), Raynaud’s phenomenon (8 %), purpuric/vasculitic rash (13 %), erythema nodosum (13 %), eczema (20 %) CNS/PNS: ischemic stroke (54 %), hemorrhagic stroke (13 %), intracranial haemorrhage (13 %), cranial nerve paralysis (37 %), polineuropathy (8 %), neurosensorial hearing loss (8 %). Visceral involvement: abdominal pain (17 %), bowel ulcerations (8 %), chronic gastritis (4 %), bowel stenosis (4 %), colitis (4 %), hepatomegaly (45 %), splenomegaly (58 %), acute liver failure (4 %), hypertension (8 %). Immune/hematologic system: hypogammaglobulinemia (62 %), pancytopenia (8 %), leucopoenia (20 %), lymphopenia (13 %), granulocytopenia (4 %), anaemia (25 %), thrombocytopenia (4 %), lymphadenopathy (25 %), recurrent infections (29 %). |
9 in heterozygosis | |||
P193L | 4 | 1 in heterozygosis | Fever Skin: Livedo reticularis, ulcerations at extremities CNS/PNS: ischemic stroke, TIA, intracranial haemorrhage, polineuropathy Visceral involvement: bowel stenosis, oral aphtae Immune/hematologic system: hypogammaglobulinemia (100 %). |
M243R | 4 | 2 in heterozygosis | Fever (50 %) Skin: erythema nodosum (50 %) CNS/PNS: intracranial haemorrhage (50 %) Visceral involvement: splenomegaly (100 %) Immune/hematologic system: hypogammaglobulinemia (100 %), recurrent infections (100 %). |
P251L | 4 | 4 in heterozygosis | Fever (25 %) Skin: Livedo reticularis (75 %), vasculitic rash (50 %) CNS/PNS: ischemic stroke (75 %), cranial nerve paralysis (100 %), neurosensorial hearing loss (25 %). Visceral involvement: hypertension (25 %), epididymitis (25 %) |
W264S | 5 | 1 in heterozygosis | Fever Skin: Livedo reticularis Visceral involvement: hypertension, abdominal and renal aneurysm (100 %). |
R306* | 6 | 1 in heterozygosis | Fever Skin: rash CNS/PNS: ischemic stroke, hemorrhagic stroke, intracranial haemorrhage (100 %) |
N328K | 7 | 2 in heterozygosis | Fever (50 %) Skin: Livedo racemosa (50 %), skin nodules (50 %) Immune/hematologic system: hypogammaglobulinemia (100 %), recurrent infections (50 %) |
Y453C | 9 | 3 in heterozygosis | Fever (100 %) Skin: Livedo reticularis (100 %), urticarial rash (33 %) CNS/PNS: ischemic stroke (100 %), haemorrhagic strokes (33 %) Visceral involvement: hepatomegaly (66 %), splenomegaly (100 %), portal hypertension (33 %) Immune/hematologic system: Pancytopenia (66 %), hypogammaglobulinemia (66 %). |
Histopathology or angiographic abnormalities (mandatory) plus one of the five following criteria: | - Histology: necrotising vasculitis in medium or small-sized arteries. - Angiography: aneurysm, stenosis or occlusion of a medium or small sized artery, | |
EULAR/PRINTO/PRES classification criteria for childhood Polyarteritis nodosa (c-PAN) | 1. Skin involvement | Livedo reticularis, skin nodules, superficial ulcers, peripheral tissue necrosis |
2. Myalgia/muscle tenderness | Muscle pain or tenderness | |
3. Hypertension | Blood pressure > 95th centile | |
4. Peripheral neuropathy | Sensory or motor neuropathy | |
5. Renal involvement | Proteinuria, haematuria, impaired function |
Unusual phenotypes
Outcome
Treatment
Therapy | Case report (number of treated patients) | Response to treatment |
---|---|---|
Steroids (orally or i.v.) | Navon et al. (17) | In 2 cases complete control of the disease with on demand steroidal therapy. In other patients steroid-dependence. |
Zhou et al. (9) | Partial control of diseases manifestations with high doses of corticosteroids | |
Van Eyck et al. (2) | Steroid-dependence | |
Belot et al. (2) | Steroid-dependence | |
Garg et al. (1) | Steroid-dependence | |
Van Montfrans et al. (6) | Partial response in 3 patients | |
Schepp et al. (1) | Partial response | |
cyclophosphamide (orally or i.v.) | Navon et al. (9) | Good response in 2 patients. |
Zhou et al. (7) | Not specified | |
Belot et al. (2) | Partial response | |
Garg et al. (1) | Poor response | |
Batu et al. (4) | Poor response | |
Azathioprine | Navon et al. (7) | No patients with complete response |
Van Eyck et al. (2) | Poor response | |
Belot et al. (1) | Good response in association to methotrexate | |
Batu et al. (3) | Poor response | |
Van Montfrans et al. (5) | Not specified | |
Methotrexate | Navon et al. (3) | Good response in association with other immunosuppressive and biologics |
Belot et al. (1) | Good response in association with azathioprine | |
Batu et al. (3) | Poor response | |
Schepp et al. (1) | Partial response | |
Cyclosporine | Van Eyck et al. (1) | Poor response |
Colchicine | Batu et al. (5) | Good response in one patient, none response in 4 patients |
Mycophenolate | Zhou et al. (2) | Not specified |
Van Eyck et al. (1) | Poor response | |
Belot et al. (1) | Partial response in association with cyclophosphamide | |
Batu et al. (2) | Good response in one patient, poor in the other | |
Sirolimus | Van Eyck et al. (2) | Good response in one patient Poor response in one patient |
Tacrolimus | Van Eyck et al. (2) | Good response in one patient Poor response in one patient |
I.v. immunoglobulins | Navon et al. (1) | Not specified |
Zhou et al. (5) | Not specified | |
Van Eyck et al. (2) | Prophylactic dosage | |
Belot et al. (1) | Prophylactic dosage | |
Schepp et al. (2) | Prophylactic dosage | |
Anakinra | Zhou et al. (5) | Not specified |
Garg et al. (1) | Initial partial response than relapse | |
Van Montfrans et al. (1) | Good response | |
Canakinumab | Garg et al. (1) | Initial partial response than relapse |
Etanercept | Navon et al. (5) | Complete response in 5 patients Partial response in 1 patient |
Zhou et al. (6) | Not specified | |
van Montfrans et al. (3) | Partial response in 1 pateint Complete response in 2 patients | |
Batu et al. (3) | Partial response in 2 patients, complete in 1 | |
Adalimumab | Navon et al. (3) | Complete response in 2 patients, exacerbation in 1 patient |
Infliximab | Navon et al. (2) | Complete response in 1 patient Partial response in 1 patient |
Tocilizumab | Zhou et al. (1) | Not specified |
Van Eyck et al. (1) | Complete response | |
Batu et al. (1) | Poor response | |
Rituximab | Zhou et al. (1) | Poor response |
Belot et al. (1) | Poor response |