History of Changes for Study: NCT00001373

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

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Study Record Versions

Version	Submitted Date	Changes
1	June 23, 2005	None (earliest Version on record)
2	June 19, 2006	Study Status, References, Contacts/Locations, Eligibility, Study Description, Study Design, Oversight and Study Identification
3	August 23, 2006	Contacts/Locations and Study Status
4	August 29, 2006	Study Design and Study Status
5	October 26, 2006	Study Status
6	December 12, 2006	Study Status and Contacts/Locations
7	February 24, 2007	Study Status
8	March 17, 2007	Study Status
9	April 27, 2007	Study Status
10	September 19, 2007	Conditions and Study Status
11	October 3, 2007	Eligibility and Study Status
12	March 3, 2008	Study Design and Study Status
13	March 7, 2008	Study Status
14	July 16, 2008	References and Study Status
15	July 18, 2008	Study Status
16	November 15, 2008	Study Status
17	December 10, 2008	Study Description and Study Status
18	August 12, 2009	Study Design and Study Status
19	October 30, 2009	Study Status
20	November 25, 2009	Study Design and Study Status
21	June 16, 2010	Study Status
22	July 7, 2010	Study Status
23	July 30, 2010	Eligibility, Study Description and Study Status
24	August 7, 2010	Study Status
25	September 17, 2010	References and Study Status
26	October 9, 2010	References, Study Status and Study Identification
27	June 30, 2011	Study Status
28	December 24, 2011	Contacts/Locations and Study Status
29	March 14, 2012	Contacts/Locations and Study Status
30	March 21, 2012	Contacts/Locations and Study Status
31	April 25, 2012	Eligibility and Study Status
32	April 28, 2012	Study Status
33	November 1, 2012	Sponsor/Collaborators and Study Status
34	March 1, 2013	Study Status
35	April 18, 2013	References, Study Description, Eligibility and Study Status
36	April 25, 2013	Conditions and Study Status
37	April 26, 2013	Sponsor/Collaborators and Study Status
38	May 1, 2013	Contacts/Locations and Study Status
39	May 23, 2013	Sponsor/Collaborators and Study Status
40	October 5, 2013	Sponsor/Collaborators and Study Status
41	November 27, 2013	Study Description and Study Status
42	December 6, 2013	Contacts/Locations and Study Status
43	January 8, 2014	Study Status
44	January 14, 2014	Contacts/Locations and Study Status
45	February 19, 2014	Study Description and Study Status
46	February 21, 2014	Eligibility, Study Description and Study Status
47	March 12, 2014	Study Status and Study Identification
48	March 14, 2014	Study Status and Study Identification
49	October 24, 2014	Conditions, Study Design and Study Status
50	October 25, 2014	Study Status, Contacts/Locations and Sponsor/Collaborators
51	August 25, 2015	Study Status
52	March 4, 2016	Sponsor/Collaborators and Study Status
53	May 11, 2016	Study Status
54	May 27, 2016	Study Status
55	July 2, 2016	Study Status
56	August 17, 2016	Study Status
57	August 31, 2016	References and Study Status
58	September 27, 2016	Study Status
59	January 19, 2017	Study Status
60	January 20, 2017	Study Status
61	January 24, 2017	Study Status
62	January 27, 2017	Study Status
63	February 14, 2017	Study Status
64	March 10, 2017	Study Status
65	April 20, 2017	Study Design and Study Status
66	April 21, 2017	Study Status
67	May 20, 2017	Study Status
68	May 23, 2017	Contacts/Locations, Study Design and Study Status
69	June 1, 2017	Study Status
70	June 30, 2017	Study Status
71	October 5, 2017	Study Status
72	October 11, 2017	Study Status
73	October 18, 2017	Study Status, Eligibility, Study Description and Study Identification
74	October 26, 2017	Study Status
75	February 28, 2018	Contacts/Locations, Study Description and Study Status
76	March 3, 2018	Study Description and Study Status
77	March 27, 2018	Contacts/Locations and Study Status
78	April 3, 2018	Study Description and Study Status
79	April 20, 2018	Study Description and Study Status
80	April 21, 2018	Study Description and Study Status
81	April 24, 2018	Study Status
82	May 5, 2018	Study Description and Study Status
83	May 16, 2018	Study Description and Study Status
84	May 18, 2018	Study Description and Study Status
85	May 26, 2018	Study Status
86	June 26, 2018	Study Status
87	August 8, 2018	Oversight and Study Status
88	September 1, 2018	Eligibility and Study Status
89	September 6, 2018	Study Status
90	December 4, 2018	Study Status
91	December 14, 2018	Study Description and Study Status
92	December 19, 2018	Study Description and Study Status
93	February 2, 2019	Study Description and Study Status
94	February 7, 2019	Study Description and Study Status
95	April 3, 2019	Study Description and Study Status
96	April 9, 2019	Study Description and Study Status
97	May 25, 2019	Study Status
98	May 31, 2019	Study Status
99	September 5, 2019	Study Description and Study Status
100	September 7, 2019	Study Description and Study Status
101	September 24, 2019	Study Description and Study Status
102	October 4, 2019	Study Description and Study Status
103	October 9, 2019	Study Description and Study Status
104	October 19, 2019	Study Description and Study Status
105	October 22, 2019	Study Description and Study Status
106	October 24, 2019	Study Description and Study Status
107	October 31, 2019	Study Description and Study Status
108	November 2, 2019	Study Description and Study Status
109	November 5, 2019	Study Description and Study Status
110	November 6, 2019	Study Description and Study Status
111	November 7, 2019	Study Description and Study Status
112	November 8, 2019	Study Status
113	November 9, 2019	Study Description and Study Status
114	January 10, 2020	Study Description and Study Status
115	January 16, 2020	Study Description and Study Status
116	February 1, 2020	Study Description and Study Status
117	February 5, 2020	Study Description and Study Status
118	February 22, 2020	Study Description and Study Status
119	February 25, 2020	Study Description and Study Status
120	April 29, 2020	Study Description and Study Status
121	May 5, 2020	Study Description and Study Status
122	May 6, 2020	Study Description and Study Status
123	May 19, 2020	Study Description and Study Status
124	June 4, 2020	Eligibility, Outcome Measures, Conditions and Study Status
125	June 5, 2020	Study Status
126	June 11, 2020	Study Description and Study Status
127	June 12, 2020	Study Description and Study Status
128	June 27, 2020	Study Description and Study Status
129	July 1, 2020	Eligibility, Outcome Measures, Conditions, Contacts/Locations, Groups and Interventions, Study Design, Study Description, Study Status and Study Identification
130	July 3, 2020	Contacts/Locations and Study Status
131	July 8, 2020	Study Status
132	July 16, 2020	Study Description and Study Status
133	November 6, 2020	Study Status
134	November 21, 2020	Study Description and Study Status
135	November 25, 2020	Study Description and Study Status
136	February 26, 2021	Study Status
137	March 19, 2021	Study Description and Study Status
138	March 20, 2021	Study Description and Study Status
139	March 23, 2021	Study Description and Study Status
140	March 26, 2021	Study Description and Study Status
141	March 31, 2021	Study Description and Study Status
142	April 20, 2021	Study Description and Study Status
143	April 27, 2021	Study Description and Study Status
144	May 13, 2021	Study Description and Study Status
145	May 19, 2021	Study Status and Study Description
146	June 22, 2021	Study Description and Study Status
147	June 23, 2021	Study Description and Study Status
148	July 9, 2021	Study Description and Study Status
149	July 14, 2021	Study Description and Study Status
150	July 23, 2021	Study Description and Study Status
151	July 24, 2021	Study Description and Study Status
152	August 10, 2021	Study Description and Study Status
153	August 12, 2021	Study Description and Study Status
154	August 18, 2021	Oversight and Study Status
155	August 19, 2021	Study Status
156	August 25, 2021	Study Description and Study Status
157	August 27, 2021	Study Description and Study Status
158	August 28, 2021	Study Description and Study Status
159	September 1, 2021	Study Description and Study Status
160	October 13, 2021	Study Description and Study Status
161	October 15, 2021	Study Status and Study Description
162	October 16, 2021	Study Description and Study Status
163	October 21, 2021	Study Description and Study Status
164	October 22, 2021	Study Description and Study Status
165	October 23, 2021	Study Description and Study Status
166	October 28, 2021	Study Description and Study Status
167	November 3, 2021	Study Description and Study Status
168	November 23, 2021	Eligibility and Study Status
169	November 25, 2021	Study Status
170	November 27, 2021	Study Description and Study Status
171	December 4, 2021	Study Description and Study Status
172	December 9, 2021	Study Description and Study Status
173	December 15, 2021	Conditions and Study Status
174	December 17, 2021	Study Description and Study Status
175	December 21, 2021	Conditions and Study Status
176	December 29, 2021	Study Description and Study Status
177	January 5, 2022	Study Description and Study Status
178	January 22, 2022	Study Description and Study Status
179	January 25, 2022	Study Description and Study Status
180	January 26, 2022	Study Description and Study Status
181	January 27, 2022	Study Description and Study Status
182	January 28, 2022	Study Description and Study Status
183	February 3, 2022	Study Description and Study Status
184	February 4, 2022	Study Description and Study Status
185	February 11, 2022	Study Description and Study Status
186	February 16, 2022	Study Description and Study Status
187	February 18, 2022	Study Description and Study Status
188	February 24, 2022	Study Description and Study Status
189	March 1, 2022	Study Description and Study Status
190	March 9, 2022	Study Description and Study Status
191	March 12, 2022	Study Description and Study Status
192	March 15, 2022	IPDSharing and Study Status
193	March 16, 2022	Study Status
194	March 17, 2022	Study Status
195	March 18, 2022	Study Status
196	March 19, 2022	Study Description and Study Status
197	March 22, 2022	Study Description and Study Status
198	March 23, 2022	Study Status
199	March 24, 2022	Study Status
200	March 25, 2022	Study Status
201	March 26, 2022	Study Status
202	March 30, 2022	Study Description and Study Status
203	March 31, 2022	Study Status
204	April 1, 2022	Study Status
205	April 2, 2022	Study Description and Study Status
206	April 5, 2022	Study Description and Study Status
207	April 6, 2022	Study Status
208	April 7, 2022	Study Description and Study Status
209	April 8, 2022	Study Status
210	April 9, 2022	Study Status
211	April 13, 2022	Study Description and Study Status
212	April 14, 2022	Study Status
213	April 15, 2022	Study Status
214	April 16, 2022	Study Status
215	April 19, 2022	Study Status
216	April 20, 2022	Study Status
217	April 21, 2022	Study Status
218	April 22, 2022	Study Status
219	April 23, 2022	Study Status
220	April 26, 2022	Study Status
221	April 27, 2022	Study Status
222	April 29, 2022	Study Description and Study Status
223	May 2, 2022	Study Description and Study Status
224	May 3, 2022	Study Status
225	May 4, 2022	Study Status
226	May 5, 2022	Study Status
227	May 6, 2022	Study Status
228	May 9, 2022	Study Status
229	May 10, 2022	Study Status
230	May 11, 2022	Study Status
231	May 12, 2022	Study Status
232	May 13, 2022	Study Status
233	May 16, 2022	Study Status
234	May 17, 2022	Study Status
235	May 18, 2022	Study Status
236	May 19, 2022	Study Status
237	May 20, 2022	Study Status
238	May 23, 2022	Study Status
239	May 24, 2022	Study Status
240	May 25, 2022	Study Status
241	May 26, 2022	Study Status
242	May 27, 2022	Study Description and Study Status
243	May 31, 2022	Study Status
244	June 1, 2022	Study Status
245	June 2, 2022	Study Status
246	June 3, 2022	Study Description and Study Status
247	June 6, 2022	Study Description and Study Status
248	June 7, 2022	Study Description and Study Status
249	June 8, 2022	Study Description and Study Status
250	June 9, 2022	Study Status
251	June 10, 2022	Study Description and Study Status
252	June 13, 2022	Study Description and Study Status
253	June 14, 2022	Study Status
254	June 15, 2022	Study Description and Study Status
255	June 17, 2022	Study Status
256	June 21, 2022	Study Description and Study Status
257	June 22, 2022	Study Status
258	June 23, 2022	Study Status
259	June 24, 2022	Study Description and Study Status
260	June 27, 2022	Study Description and Study Status
261	June 29, 2022	Study Status
262	June 30, 2022	Study Status
263	July 1, 2022	Study Description and Study Status
264	July 5, 2022	Study Status
265	July 6, 2022	Study Description and Study Status
266	July 9, 2022	Study Description and Study Status
267	July 15, 2022	Study Description and Study Status
268	July 16, 2022	Study Description and Study Status
269	August 12, 2022	Study Description and Study Status
270	August 13, 2022	Study Status
271	August 18, 2022	Study Description and Study Status
272	August 24, 2022	Study Description and Study Status
273	August 31, 2022	Study Description and Study Status
274	September 2, 2022	Study Description and Study Status
275	September 7, 2022	Contacts/Locations and Study Status
276	September 8, 2022	Study Description and Study Status
277	September 9, 2022	Study Description and Study Status
278	September 14, 2022	Study Description and Study Status
279	September 16, 2022	Study Description and Study Status
280	September 17, 2022	Study Description and Study Status
281	September 23, 2022	Study Description and Study Status
282	September 24, 2022	Study Description and Study Status
283	October 6, 2022	Study Description and Study Status
284	October 8, 2022	Study Description and Study Status
285	October 19, 2022	Study Description and Study Status
286	October 20, 2022	Study Status
287	October 22, 2022	Study Description and Study Status
288	October 26, 2022	Study Description and Study Status
289	November 3, 2022	Study Description and Study Status
290	November 8, 2022	Study Description and Study Status
291	November 11, 2022	Study Description and Study Status
292	November 19, 2022	Study Description and Study Status
293	December 1, 2022	Study Description and Study Status
294	December 7, 2022	Study Description and Study Status
295	December 13, 2022	Study Description and Study Status
296	December 16, 2022	Study Description and Study Status
297	December 22, 2022	Study Description and Study Status
298	December 23, 2022	Study Description and Study Status
299	December 30, 2022	Study Description and Study Status
300	January 18, 2023	Study Description and Study Status
301	January 20, 2023	Study Description and Study Status
302	January 21, 2023	Study Description and Study Status
303	February 7, 2023	Study Description and Study Status
304	February 8, 2023	Study Description and Study Status
305	February 9, 2023	Study Description and Study Status
306	March 4, 2023	Study Status
307	April 21, 2023	Study Description and Study Status
308	April 26, 2023	Study Description and Study Status
309	April 27, 2023	Contacts/Locations and Study Status
310	April 28, 2023	Study Status
311	May 4, 2023	Study Description and Study Status
312	June 1, 2023	Study Description and Study Status
313	June 8, 2023	Study Description and Study Status
314	June 16, 2023	Study Description and Study Status
315	July 19, 2023	Study Description and Study Status
316	August 1, 2023	Study Description and Study Status
317	August 3, 2023	Study Description and Study Status
318	August 4, 2023	Study Description and Study Status
319	August 23, 2023	Study Description and Study Status
320	August 24, 2023	Study Description and Study Status
321	August 25, 2023	Study Status
322	August 30, 2023	Study Description and Study Status
323	September 23, 2023	Study Description and Study Status
324	October 13, 2023	Study Status and Study Description
325	October 14, 2023	Study Description and Study Status
326	October 18, 2023	Study Description and Study Status
327	November 4, 2023	Study Status and Study Description
328	November 9, 2023	Study Description and Study Status
329	November 10, 2023	Contacts/Locations, Eligibility, Conditions, Study Description and Study Status
330	November 17, 2023	Study Description and Study Status
331	November 23, 2023	Study Description and Study Status
332	December 13, 2023	Study Description and Study Status
333	December 16, 2023	Study Description and Study Status
334	December 23, 2023	Study Description and Study Status
335	January 4, 2024	Study Description and Study Status
336	January 6, 2024	Study Description and Study Status
337	January 19, 2024	Study Description and Study Status
338	January 20, 2024	Study Description and Study Status
339	January 27, 2024	Study Description and Study Status
340	January 31, 2024	Contacts/Locations and Study Status
341	February 14, 2024	Study Description and Study Status
342	February 22, 2024	Study Description and Study Status
343	March 1, 2024	Study Status
344	March 19, 2024	Study Status
345	March 30, 2024	Study Status
346	April 2, 2024	Study Description and Study Status
347	April 10, 2024	Study Description and Study Status
348	April 16, 2024	Study Description and Study Status
349	April 25, 2024	Study Description and Study Status
350	April 27, 2024	Study Description and Study Status
351	May 2, 2024	Study Description and Study Status
352	May 8, 2024	Study Status
353	May 14, 2024	Study Description and Study Status
354	May 15, 2024	Study Description and Study Status

Comparison Format:

Merged
Side-by-Side

Study Identification


Unique Protocol ID:	940105
Brief Title:	Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Official Title:	Genetics and Pathophysiology of Familial Mediterranean Fever and Related Disorders
Secondary IDs:	94-AR-0105

Study Status


Record Verification:	March 8, 2006
Overall Status:	Recruiting
Study Start:	March 8, 1994
Primary Completion:
Study Completion:

First Submitted:	November 3, 1999
First Submitted that Met QC Criteria:	November 3, 1999
First Posted:	November 4, 1999 [Estimate]

Last Update Submitted that Met QC Criteria:	June 23, 2005
Last Update Posted:	June 24, 2005 [Estimate]

Sponsor/Collaborators


Sponsor:	National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Responsible Party:
Collaborators:

Oversight


U.S. FDA-regulated Drug:
U.S. FDA-regulated Device:
Data Monitoring:

Study Description

Brief Summary:

This study is designed to explore the genetics involved in diseases of intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.The following individuals may be eligible for this study: 1) patients 5 years of age and older with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 18 years of age or older; and 4) healthy patients with gout 18 years of age or older who are taking colchicine.Patients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following:1. X-rays2. Consultations with specialists3. DNA sample collection (blood sample or cells obtained from a brushing of the inside of the cheek) for genetic studies, if this has not already been done.4. Additional blood samples-a maximum of 1 pint (450 ml) during a 6-week period-for studies of white cell adhesion (stickiness)5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm.6. Bone marrow aspiration to study white cells early in their development. This procedure will be requested of only a few patients. An area of skin on the back is numbed, a needle is inserted into a pelvic bone, and a small amount of bone marrow is withdrawn.Patients will be followed approximately every 6 months to monitor symptoms, adjust medicine levels, and undergo routine blood and urine tests. They will receive genetic counseling on the risk of having affected children and be advised of treatment options.Participating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or cheek swabbing) will also be collected for genetic studies. Additional blood samples of no more than 1 pint during a 6-week period may be requested for studies of white cell adhesion (stickiness).Relatives who have familial Mediterranean fever, TRAPS, or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above.Normal volunteers and patients with gout will have a brief health interview and check of vital signs (blood pressure and pulse) and will provide a blood sample (up to 90 ml, or 6 tablespoons). Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future.

Detailed Description:

The purpose of this protocol is to study the genetics and pathophysiology of familial Mediterranean fever (FMF) and other related diseases. FMF is a recessively inherited condition characterized by episodes of fever and serositis or synovitis; some patients also develop systemic amyloidosis. Our laboratory has identified the FMF gene and several disease-related mutations. The FMF gene encodes a novel protein called pyrin that is the prototype of a family of molecules involved in the regulation of apoptosis (cell-death) and inflammation. The precise biochemical mechanism by which these proteins function, and by which mutations cause disease, is still unknown.There are a number of other conditions, sometimes referred to as autoinflammatory syndromes because of the lack of high-titer autoantibodies or antigen-specific T-cells, that are also characterized by episodic inflammation. Six are caused by recently-discovered mutations in four other genes: the TNF-receptor associated periodic syndrome (TRAPS) is caused by mutations in one of the receptors for tumor necrosis factor (TNF); the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is caused by mutations in the gene encoding mevolonate kinase; Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS), and neonatal onset multisystem inflammatory disease (NOMID) are caused by mutations in the gene encoding cryopyrin, a member of the aforementioned pyrin family of proteins; and the syndrome of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) is caused by mutations in PSTPIP1, a protein that binds pyrin. In addition, there are patients with episodic fevers and/or inflammation who do not have identifiable mutations in any of these genes. Some of these latter cases appear to cluster in families, while others are sporadic.The goals of this protocol are: 1) to gather and evaluate clinical data on selected patients with FMF and related conditions, so as to characterize more thoroughly the clinical features and natural history of patients with recognized disorders as well as those with as yet undefined autoinflammatory conditions; 2) to identify mutations, both in known autoinflammatory genes and in other genes, that lead to syndromes of periodic inflammation, and to study possible correlations between specific genetic mutations and disease manifestations; and 3) to undertake functional, biochemical, and molecular studies of leukocytes from patients with both known and as yet poorly defined autoinflammatory conditions.Patients will undergo screening history, physical examination, and clinical laboratory evaluation, usually in the outpatient department. Imaging studies and skin or muscle biopsies may be performed when clinically indicated. Where appropriate, we will ask probands to obtain permission from family members to be contacted. We will collect blood samples from consenting affected individuals and, in some cases, unaffected family members, extract DNA, and perform molecular genetic analyses. For cellular and biochemical studies we will obtain blood samples from patients, selected unaffected family members, and unrelated controls. In some cases adult patients may be asked to interrupt treatment temporarily to obtain additional blood samples. We may also ask a small number of adult patients to undergo leukapheresis and/or bone marrow aspiration for research purposes.

Conditions


Conditions:	Periodic Disease
Keywords:	Familial Mediterranean Fever Genetics Integrins Positional Cloning Linkage Periodic Disease Family Studies

Study Design


Study Type:	Observational
Time Perspective:
Biospecimen Retention:
Biospecimen Description:
Enrollment:	9999
Number of Groups/Cohorts	0

Groups and Interventions

Eligibility


Minimum Age:
Maximum Age:
Sex:	All
Gender Based:
Accepts Healthy Volunteers:	Yes
Criteria:	INCLUSION CRITERIA:Individuals referred to the NIH with a possible diagnosis of FMF, TRAPS, HIDS, MWS, FCAS, PAPA, PFAPA, or other unexplained febrile illnesses.Individuals over 1 year of age may be seen for initial evaluation, genetic studies, and research blood specimens, or may send blood or buccal samples for genetic testing only.We place the following age restrictions on other studies:Leukapheresis will only be performed on individuals over the age of 18 years;Brief interruption of ongoing therapy for research blood sampling will only be proposed to individuals over the age of 18 years;Research bone marrow aspirations and biopsies will only be performed on individuals over the age of 18 years.Family members of individuals: Individuals over 1 year of age may be seen for initial evaluations, genetic studies, or research blood specimens, or may send blood or buccal samples for genetic testing only. Unaffected family members will not be asked to undergo leukapheresis, interruption of ongoing therapy, or bone marrow aspirations and biopsies.Controls for cellular, biochemical, or molecular assays: All these individuals will be required to be over the age of 18, not pregnant, and otherwise in good health.EXCLUSION CRITERIAInability to provide informed consent or, in the case of minors, unavailability of a parent or guardian.Presence of any medical condition that would, in the opinion of the investigators confuse the interpretation of the study.

Contacts/Locations


Locations:	United States, Maryland
	National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) [Recruiting] Bethesda, Maryland, United States, 20892 Contact:Contact: Patient Recruitment and Public Liaison Office 8004111222 prpl@mail.cc.nih.gov Contact:Contact: TTY 1-866-411-1010

IPDSharing


Plan to Share IPD:

References


Citations:	Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997 Aug 22;90(4):797-807. doi: 10.1016/s0092-8674(00)80539-5. PubMed 9288758
	McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999 Apr 2;97(1):133-44. doi: 10.1016/s0092-8674(00)80721-7. PubMed 10199409
	Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. PubMed 10899034
Links:	URL: http://clinicalstudies.info.nih.gov/detail/A_1994-AR-0105.html Description: Detailed Web Page
Available IPD/Information: