Combined immunodeficiency due to TBX1 mutation

What it is

A rare combined immunodeficiency characterized by velo-cardio-facial gestalt (short and narrow palpebral fissures, tubulous nose, small mouth, micrognathia, low-set ears, flattened malar eminences, broad cheeks), congenital heart defect, abnormal thymus and parathyroid, and velopharyngeal insufficiency. Short stature and psychiatric disorders may also present. Developmental and speech delay were reported in few patients. Even though patients carrying TBX1 mutations may manifest clinical features that are overlapping with 22q11.2 deletion syndrome, the presence and frequency of these symptoms significantly differs; not all patients with TBX1 mutations have congenital heart defect, hypocalcemia, psychiatric disorders or developmental delay contrary to 22q11.2 deletion syndrome patients where these features are commonly present.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, Neonatal

Inheritance

Autosomal dominant

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references