Distribution of all the CIASI missense mutations identified to date, relative to the spectrum of CIASI-associated illnesses
Disorder . | Mutation . | Family or patient . | Reference . |
|---|---|---|---|
| FCU | V198M‡ | 2F | Hoffman et al,1 Dode et al18 |
| R260W§ | 2F | Dode et al18 | |
| L305P | 1P | Aganna et al19 | |
| L353P | 1P | Hoffman et al17 | |
| A439V | 1F | Hoffman et al1 | |
| E627G | 1F | Hoffman et al1 | |
| MWS | V198M‡ | 1F | Aganna et al19 |
| R260W§ | 3F and 1P | Dode et al,18 Aganna et al19 | |
| A352V | 1F | Hoffman et al1 | |
| T348M∥ | 2F and 1P | Dode et al18 | |
| A439T | 1F | Dode et al18 | |
| G569R | 1F | Dode et al18 | |
| CINCA* | D303N¶ | 1F and 1P | Feldmann et al,13 Dode et al,18 Granel et al38 |
| Q306K | 1P | Feldmann et al13 | |
| T348M∥ | 2P | Rosen-Wolff et al39 and current study | |
| E354D | 1P | Current study | |
| H358R | 1P | Feldmann et al13 | |
| T436N | 1F | Feldmann et al13 | |
| L632N | 1P | Current study | |
| M662T | 1P | Feldmann et al13 | |
| R260L | 1P | Current study | |
| CINCA† | R260P | 1P | Current study |
| L264F | 1P | Aksentijevich et al20 | |
| D303N¶ | 2P | Aksentijevich et al20 and current study | |
| D303G | 1P | Current study | |
| F309S | 2P | Feldmann et al13 and current study | |
| A374N | 1P | Aksentijevich et al20 | |
| T405P | 1P | Current study | |
| T436I | 1P | Current study | |
| F523L | 2P | Aksentijevich et al20 | |
| Y570C | 5P | Hoffman et al,1 Aksentijevich et al,20 Rosen-Wolff et al,39 and current study | |
| F573S | 1P | Feldmann et al13 |
Disorder . | Mutation . | Family or patient . | Reference . |
|---|---|---|---|
| FCU | V198M‡ | 2F | Hoffman et al,1 Dode et al18 |
| R260W§ | 2F | Dode et al18 | |
| L305P | 1P | Aganna et al19 | |
| L353P | 1P | Hoffman et al17 | |
| A439V | 1F | Hoffman et al1 | |
| E627G | 1F | Hoffman et al1 | |
| MWS | V198M‡ | 1F | Aganna et al19 |
| R260W§ | 3F and 1P | Dode et al,18 Aganna et al19 | |
| A352V | 1F | Hoffman et al1 | |
| T348M∥ | 2F and 1P | Dode et al18 | |
| A439T | 1F | Dode et al18 | |
| G569R | 1F | Dode et al18 | |
| CINCA* | D303N¶ | 1F and 1P | Feldmann et al,13 Dode et al,18 Granel et al38 |
| Q306K | 1P | Feldmann et al13 | |
| T348M∥ | 2P | Rosen-Wolff et al39 and current study | |
| E354D | 1P | Current study | |
| H358R | 1P | Feldmann et al13 | |
| T436N | 1F | Feldmann et al13 | |
| L632N | 1P | Current study | |
| M662T | 1P | Feldmann et al13 | |
| R260L | 1P | Current study | |
| CINCA† | R260P | 1P | Current study |
| L264F | 1P | Aksentijevich et al20 | |
| D303N¶ | 2P | Aksentijevich et al20 and current study | |
| D303G | 1P | Current study | |
| F309S | 2P | Feldmann et al13 and current study | |
| A374N | 1P | Aksentijevich et al20 | |
| T405P | 1P | Current study | |
| T436I | 1P | Current study | |
| F523L | 2P | Aksentijevich et al20 | |
| Y570C | 5P | Hoffman et al,1 Aksentijevich et al,20 Rosen-Wolff et al,39 and current study | |
| F573S | 1P | Feldmann et al13 |
Boldface indicates independent mutations identified in several patients. F indicates family; and P, patient.
Reference citations relate to previous descriptions of the corresponding mutations.
CINCA with chronic meningitis and transient joint flares.
CINCA with chronic meningitis and permanent, deforming arthropathies.
Similar mutations observed in patients from different groups.