Prevalence < 1/106. Autosomal recessive or X-linked transmission of anomalies in the actin cytoskeleton regulation due, among others, to pathological variants of the DOCK (Dedicator of cytokinesis) 2 (5q35.1), 8 (9p24) or 11 (Xq24) genes, coding for guanine exchangers that activate a GTPase that generates other intracellular processes. Actin is an evolutionary structure enabling cell deformation and migration. These mutations lead to abnormalities in cell morphology, cell migration (to sites of infection) and immune regulation, leading to the early onset of autoimmune diseases.

Clinical presentation can vary:

-        autoinflammatory skin or digestive syndromes (pseudo ulcerative colitis, pseudo Crohn's disease)

-        frequent viral infections

-        normocytic or autoimmune anemia

-        abnormalities in T and B lymphocytes number and/or function

-        Evans syndrome (see this term)

-        hyperproduction of interleukins (IL2) or cytokines (TNF)

-        hyperproduction of IgE

-        recurrent fever without origin

-        early death (DOCK11)

A distinction is made between

-        DOCK 2 deficiency [MIM 616 433]: combined immunodeficiency syndrome

-        DOCK 8 deficiency [MIM 243 700]: hyper-IgE syndrome with recurrent infections

-        DOCK 11 deficiency [MIM 301 109]: ADMIDX syndrome, acronym for Autoimmune Disease, Multisystem, with Immune Dysregulation, X-linked

Treatment: antibiotic prophylaxis, antibiotic therapy, bone marrow transplantation

Anesthetic implications: 

antisepsis, antibioprophylaxis, check blood electrolytes

References : 

-        Tangye SG, Meyts I .
DOCK11 and immune disease.
N Engl J Med  2023 ; 389 (6): 563-7

Updated: August 2023