Follow-up and outcome of symptomatic partial or absolute IgA deficiency in children

• Published in: European journal of pediatrics Vol. 178; no. 1; pp. 51 - 60
• Main Authors: Moschese, Viviana, Chini, Loredana, Graziani, Simona, Sgrulletti, Mayla, Gallo, Vera, Di Matteo, Gigliola, Ferrari, Simona, Di Cesare, Silvia, Cirillo, Emilia, Pession, Andrea, Pignata, Claudio, Specchia, Fernando
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-01-2019; Springer Nature B.V
• Subjects: Allergies; Autoimmunity; Children; Defects; Diagnosis; Immunodeficiency; Immunoglobulin A; Immunology; Infections; Medicine; Medicine & Public Health; Original Article; Patients; Pediatrics; Primary immunodeficiencies; Recurrent respiratory infections; TNFRSF13B; Antibody deficiency; Primary immunodeficiency
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s00431-018-3248-1

Selective IgA deficiency is defined as absolute or partial when serum IgA level is < 7 mg/dl or 2 SD below normal for age, respectively. Few data are available on partial selective IgA deficiency, as probably most children with low serum IgA are seldom referred to a specialist clinic in common pediatric practice. The aim of our study was to better define the profile of both symptomatic forms and their clinical outcome in a pediatric immunology setting. Thus, clinical and immunological data from 103 symptomatic patients with selective IgA deficiency (53 absolute and 50 partial), 4–18 years of age, were collected at diagnosis and 80 patients (44 absolute and 36 partial) were monitored for a mean period of 5 years. Also, the prevalence of
TNFRSF13B
mutations has been assessed in 56 patients. The most common clinical features were infections (86/103; 83%), allergy (39/103; 38%), and autoimmunity (13/103; 13%). No significative differences were observed between absolute and partial selective IgA deficiency patients. However, a significative difference in the rate of IgA normalization between partial and absolute selective IgA deficiency patients (33 vs 9%,
p
 = 0.01) was detected. Furthermore, a lower incidence of infections was associated to a normalization reversal compared to a final absolute or partial defect status (12 vs 53 and 64% respectively,
p
 < 0.01).
Conclusions
: Regardless of a diagnosis of absolute or partial defect, monitoring of symptomatic patients with selective IgA deficiency is recommended overtime for prompt identification and treatment of associated diseases. Further, diagnostic workup protocols should be revisited in children with IgA deficiency.
What is Known:
● Selective IgA Deficiency is the most common primary immunodeficiency and is usually asymptomatic.
● Symptomatic pediatric patients with selective IgA deficiency mostly suffer with respiratory and gastrointestinal infections.
What is New:
● Symptomatic children with partial IgA defect may have similar clinical, immunological, and genetic features than symptomatic children with absolute IgA deficiency.
● Symptomatic children with partial IgA deficiency deserve accurate monitoring for associated diseases as per children with absolute IgA deficiency
.