Clinical Predictors of Primary Immunodeficiency Diseases in Children

Abstract

PurposeTo promote awareness of primary immunodeficiency (PID), the "10 warning signs" of PID and an immunodeficiency-related (IDR) score were developed. However, their efficiency in identifying PID cases was not sufficiently evaluated in clinical practice. The objective of this study was to test the validity of the 10 warning signs and IDR score in identifying PID among children with recurrent infections at a tertiary pediatric hospital in Egypt.MethodsA retrospective analysis of the medical records of 204 patients was performed. Of these patients, 92 had defined PID diseases and 112 were considered non-PID cases because investigations were inconclusive.ResultsDemonstrating two warning signs and an IDR score of 6 led to sensitivities of 94 and 66%, respectively, and specificities of 64 and 75%, respectively, in identifying PID cases. The strongest predictor of PID was family history that, if combined with the need for intravenous antibiotics, recurrent deep-seated infections, and failure to thrive, could identify 81% of PID patients. A family history of PID, sibling death, and/or parental consanguinity would predict 92% of combined immunodeficiencies, 92% of phagocyte defects, 87% of well-identified immunodeficiency syndromes, and 84% of antibody deficiency if the need for intravenous antibiotics is considered in the latter.ConclusionsThe 10 warning signs and IDR score do not aid in an early diagnosis of severe PID. Educational campaigns should target pediatricians aiming to increase PID awareness and to address family history of PID, parental consanguinity, and previous sibling death as key predictors of PID in communities with a high prevalence of consanguineous marriages.

A novelBTKgene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia

“…The delayed diagnosis and treatment will lead to chronic respiratory complication and serious end-organ damage. Previous literature has reported that most common clinical features of B-cell immunodeficiency in children are recurrent otitis media with markedly decreased or absent tonsils or adenoid tissues, or needs for intravenous antibiotics to clear infections15). Our case also shows absence of tonsil and adenoid tissue with recurrent otitis media failure to treat with standard oral antibiotics.…”

Individualized immunoglobulin treatment in pediatric patients with primary humoral immunodeficiency disease

“…A retrospective analysis of 204 pediatric patients showed the presence of 2 warning signs resulted in a sensitivity and specificity of 94% and 64%, respectively, of identifying PIDD. 14 significantly correlated with risk of antibody deficiency, and 84% of antibody deficiencies were predicted by a family history of PIDD, sibling death and/or parental consanguinity, or need for intravenous antibiotics. However, the same study also concluded that the 10 warning signs were not helpful in identifying severe PIDD.…”

Clinical and epidemiological characteristics of patients with suspected primary immunodeficiency disorders attending Alexandria University Children’s Hospital

“…33 The same, high rates of complement deficiency and CGD have been reported in the Irish Traveller community that, in particular, has high rate of consanguinity and familial cases were found in 25% of combined immunodeficiencies in Swedish children and 31.2% of all PID patients in Australia. 10,26,34 Regarding the clinical presentations the current study found that pneumonia was the most common infection in all categories with the highest percentage in combined group (100% 35,36 On the other hand, all patients with combined B-and T-cell defects presented by a combination of pneumonia, failure to thrive and sepsis (100%). Diarrhea and persistent oral candidiasis were common in those patients as well (75%).…”