Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family

Newborn screening program enable pre-symptomatic detection patients with severe forms of T and B cell immunodeficiency. Despite the high prevalence of 22q11.2 deletion syndrome, only 1 in 10 patients develop lymphopenia that can be detected by newborn screening program. This report presents a unique familial case of 22q11.2 deletion syndrome and Wiskott-Aldrich syndrome, highlighting the importance genetic counseling and a detailed analysis of the family history.

The article presents a case of the two rare genetic diseases in patients from the same family: 22q11.2 deletion syndrome in one and Wiskott-Aldrich syndrome in the other. Both diseases belong to the group of combined immunodeficiencies with syndromic features and are potentially life-threatening conditions requiring follow-up by a wide range of specialists: immunologists, geneticists, cardiologists, endocrinologists, and medical psychologists.

Our work aimed to describe the clinical manifestations, genetic characteristics, and diagnosis of these disorders. It is worth emphasizing that the timely diagnosis of not only 22q11.2 deletion syndrome but also other primary immunodeficiencies in the Russian Federation became possible due to the introduction of extended neonatal screening into widespread practice. For such patients, comprehensive early interventional treatment and follow-up by a wide range of specialists is important to improve prognosis and quality of life.