KEGG DISEASE: X-linked multisystem autoinflammatory disease with immune dysregulation

DISEASE: X-linked multisystem autoinflammatory disease with immune dysregulation

Entry

H02656                      Disease

Name

X-linked multisystem autoinflammatory disease with immune dysregulation

Description

X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is a rare inborn disease of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation, recurrent infections, and anemia. X-linked germline mutations in DOCK11 in the patients have been identified. Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. DOCK11 activates CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular functions.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02656  X-linked multisystem autoinflammatory disease with immune dysregulation

Gene

DOCK11 [HSA:139818] [KO:K21853]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:37342957

Authors

Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Avila Polo R, Cabrera-Perez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Dominguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deya-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Anton J, Calzada-Hernandez J, Neth O, Viaud J, Nishikimi A, Dupre L, Boztug K

Title

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

Journal

N Engl J Med 389:527-539 (2023)
DOI:10.1056/NEJMoa2210054

Reference

PMID:36952639

Authors

Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Reperant C, Durel B, Bordet JC, Pelle O, Lebreton C, Magerus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hie M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Menager M, Sepulveda FE, Adam F, Rieux-Laucat F

Title

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.

Journal

Blood 141:2713-2726 (2023)
DOI:10.1182/blood.2022018486

LinkDB

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