Table 1.
Clinical features in Majeed syndrome.
| A1 | A2 | A3 | A4 | B1 | B2 | C1 | D1 | D2 | E1 | E2 | F1 | F2 | G1 | H1 | H2 | I1 | I2 | I3 | I4 | I5 | I6 | J1 | K1 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Recurrent fever | + | + | + | + | +++ | +++ | + | – | + | – | – | NR | NR | – | + | – | + | NR | NR | – | – | – | + | – |
| Failure to thrive | + | + | + | + | + | + | – | NR | NR | + | – | NR | NR | + | – | – | + | NR | NR | NR | NR | NR | NR | – |
| CNO | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | Joint and bone pain | Joint and bone pain |
Knee pains | – | + |
| Age at onset (months) Δ | 12 | 19 | 9 | 1 | 0.75 | 9 | 15 | 6 | 3 | 24 | 96 | 6 | 48 | 72 | 13 | 15 | infant | ? | ? | ? | ? | ? | 6 | 12 |
| LE long bones | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | ||||||
| UE long bones | + | + | + | + | + | + | + | + | + | + | + | – | – | NR | NR | ND | NR | NR | ||||||
| Feet | – | – | – | – | – | + | + | – | – | + | – | + | – | + | – | ND | NR | NR | ||||||
| Spine # | – | – | – | – | – | – | – | – | – | – | – | – | – | – | ND | ND | NR | NR | ||||||
| Other | hands | hands | ribs | hands | Limb pain | Limb pain | Knee pain | |||||||||||||||||
| Bone biopsy | osteo | osteo | osteo | NR | NR | NR | ND | Osteo Φ | ND | ND | ND | ND | necrosis | osteo | c/w osteo | ND | ND | ND | ND | ND | ND | ND | ND | ND |
| Objective joint swelling | + | + | + | NR | + | + | + | – | + | + | + | + | + | + | + | – | NR | NR | NR | NR | NR | NR | – | – |
| Hepatosplenomegaly | + | + | + | + | + | NR | + | – | – | + | – | NR | NR | NR | – | – | NR | NR | NR | NR | NR | NR | – | NR |
| ↑ ESR/CRP | +++ | +++ | +++ | +++ | ++ | +++ | +++ | +++ | +++ | +++ | ++ | +++ | ++ | +++ | ++ | ++ | +++ | +++ | ++ | NR | NR | NR | +++ | +++ |
| Microcytic anemia | + | + | + | + | + 8.8 |
+ 4.0 |
+ | +° | +° | + | +* | + | + | NR | 9.3 MCV | 7.7@ | 6.9 | + | + | anemia | anemia | – | 8.5 | 10.1 |
| Transfusion Rx | ++ | +++ | ++ | ++ | ++ | +++ | – | – | – | – | – | – | – | NR | – | – | – | – | – | – | – | – | – | – |
| Dyserythropoiesis on BM | + | + | + | + | + | + | + | + | + | + | ND | ND | + | NR | ND | + | + | ND | ND | ND | ND | ND | – | + |
|
Neutropenia
(ANC) |
+ (750) |
leuko | – | + (588) |
NR | NR | NR | NR | NR | NR | NR | + (400) |
– | |||||||||||
| Neutrophilic dermatosis | + | + | – | – | – | – | – | – | – | – | – | – | – | NR | – | – | – | – | – | – | – | – | – | – |
| Treatments | Pred, NSAID |
Failed colchicine. Pred, NSAID |
Failed colchicine. Pred, NSAID |
Pred, NSAID | NSAID | NSAID | NSAID + prednisolone | Steroids, Failed etanercept, improved with anakinra, canakin |
Steroids, Failed etanercept, improved with anakinra, canakin | NSAId, MTX, partial pam |
MTX | NSAID | NSAID, canak | Anakinra | NSAID, Etanercept (failed), did well on anakinra |
Failed etanercept, improved with anakinra | NSAID, steroid, partial resonse to bisphos, anakinra | Anakinra | Anakinra | NSAID | NSAID | none | none | NSAID, canakin |
| Mutation | S734L | S734L | S734L | S734L | C181* | C181* | R776Sfs*66 | L439fs*15 | L439fs*15 | Y747* | Y747* | S734L | S734L | R776Sfs*66 | R776Sfs*66 | R776Sfs*66 | R736H | R736H | R736H | R736H | R736H | R736H | R776Sfs*66 And R564Kfs*3 |
R517H and 17.8 kb del |
Osteo = osteomyelitis; ND = not done; NR = not reported; # whole body MRI not done in most; Φ granulomatous inflammation; ° anemic but MCV not reported; * mild anemia MCV 86.8. − = not present; + = present or mildly elevated; ++ = moderately elevated; +++ = markedly elevated. Reference for family A and B (1); family C (4), family D (5), family E (6), two patients reported by Moussa F (7), patient G (8). Δ months to year conversion: 24 mo = 2 yrs; 48 mo = 4 yrs; 72 mo = 6 yrs; 96 mo = 8 yrs. Modified from Ferguson PJ; Elsevier, Edited by Cimaz and Lehman, Pediatric in Systemic Autoimmune Diseases, Volume 11, Chapter 15, Pages 315-339, 2016. @ dimorphic red cells on peripheral smear (A) Majeed 1989 (B) Majeed 1989 (C) Al-Mosawi 2007 (D) Herlin (E) Rao (F) Moussa (G) Pinto-Fernandez (H) Al-Mosai 2019 (I) Roy 2019 (J) Liu (K) Bhuyan 2020.