Epidemiology

The incidence and prevalence rates of hypogammaglobulinaemia are not clearly defined because the condition results from an extensive variety of primary and secondary defects. Primary hypogammaglobulinaemia is less common than secondary hypogammaglobulinaemia.[3]

The estimates for prevalence of primary immunodeficiency (PID) and hypogammaglobulinaemia vary widely depending on the population studied. In 2007, reported estimates derived from US administrative healthcare databases ranged from 41.1 per 100,000 and 50.5 per 100,000 (publicly insured vs. privately insured persons, respectively).[4] Among hospitalised children in the US, the national prevalence of all PID diseases per 100,000 was 126.8 in 2012.[5] However, not all of the defined PID diseases (>150) result in hypogammaglobulinaemia.

In the UK, the minimum prevalence of PID was 5.90 per 100,000 in 2017, with an average incidence between 1980 and 2000 of 7.6 cases per 100,000 UK live births.[6]

Predominantly antibody deficiencies are the most common form of PID, accounting for 77% of a PID registry survey.[7][8] Selective IgA deficiency is the most prevalent of these deficiencies (between 1/300 and 1/700), although the condition is often asymptomatic. Common variable immunodeficiency (CVID) affects around 1/30,000 and is the most clinically relevant antibody deficiency requiring immunoglobulin replacement therapy.[9][10]

Newborn screening in 11 programmes in the US identified severe combined immunodeficiency (SCID) in 1 in 58,000 infants.[11]

Hypogammaglobulinaemia can present at any age depending on the underlying cause. SCID presents early in infancy, whereas transient hypogammaglobulinaemia of infancy and X-linked agammaglobulinaemia (XLA) may present in early childhood when maternal IgG levels fall, or later in infancy. Common variable immunodeficiency (CVID) can have early or late onset but usually manifests in adolescence or early adulthood, although it may not be evident until patients are middle-aged or older.[12][13] Reports suggest that most children with hypogammaglobulinaemia and PID have transient hypogammaglobulinaemia of infancy or CVID, while approximately 7% have SCID.[3]

Most diseases that cause hypogammaglobulinaemia affect both sexes equally, although there are some rarer X-linked conditions (e.g., XLA). The prevalence of XLA in eastern and central European countries (total population 145,530,870) is estimated to be 1 per 1,399,000.[14] Secondary hypogammaglobulinaemia related to myeloma and chronic lymphocytic leukaemia tends to present in older adults, >50 years of age.

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