[Common variable immunodeficiency: one or multiple illnesses? 3 clinical cases].
Common variable immunodeficiency (CVID) is a major antibody-deficiency syndrome, associated with increased risk of bacterial infection, as well as autoimmune and granulomatous disease. The clinical and immunological features are heterogeneous. This heterogeneity is expressed by the case reports of three selected patients. These observations will be discussed, with reference to a recent classification of CVID distinguishing four different clinical entities: i) CVID presenting with clinical and immunological features of X-linked agammaglobulinemia; ii) CVID presenting with clinical and immunological features of X-linked hyper-IgM syndrome; iii) CVID associated with systemic granulomatous disease; and iiii) CVID associated with autoimmune manifestations.
Mouthon
L
L
Service de Médecine Interne, Hôpital Avicenne, Bobigny.
Cohen
P
P
Larroche
C
C
André
M H
MH
Royer
I
I
Casassus
P
P
Guillevin
L
L
D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D019943:Amino Acid Substitution / Q000235:genetics; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D001424:Bacterial Infections / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D017074:Common Variable Immunodeficiency / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005759:Gastroenteritis / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007116:Immunization, Passive; D008297:Male; D008875:Middle Aged; D009894:Opportunistic Infections / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D011505:Protein-Tyrosine Kinases / Q000235:genetics
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase