Clinical Predictors of Primary Immunodeficiency Diseases in Children

PURPOSE: To 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. METHODS: A 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. RESULTS: Demonstrating 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. CONCLUSIONS: The 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.

Evaluation of Banana Hypersensitivity Among a Group of Atopic Egyptian Children: Relation to Parental/Self Reports

PURPOSE: To evaluate the frequency of banana sensitization and allergy among a group of atopic Egyptian children in relation to parental/self reports. METHODS: This is a case-control study included 2 groups of allergic children with and without history of banana allergy, each included 40 patients. They were subjected to skin prick test (SPT) using commercial banana allergen extract and prick-prick test (PPT) using raw banana, in addition to measuring the serum banana-specific IgE. Oral banana challenge was performed in suspected cases. RESULTS: Banana allergy was diagnosed in 3 (7.5%) patients based on positive history of allergy on exposure to banana, positive SPT/PPT and elevated banana-specific IgE. The 3 patients had bronchial asthma with exacerbation upon banana exposure. The PPT results conform with those of SPT both in diagnosis of banana allergy and in the skin reactivity to banana. Serum banana-specific IgE was detectable in the whole studied sample with higher serum level among those without history of banana allergy (P=0.005). Oral banana challenge was negative for 20 patients with history of banana allergy and positive serum banana-specific IgE but negative SPT and PPT. CONCLUSIONS: Self/parental reports of banana allergy is high while the actual banana allergy is uncommon. The PPT seems as reliable as SPT in diagnosis of banana allergy unlike specific IgE which reflects sensitization rather than allergy. Oral food challenge remains the most helpful tool for diagnosis of food allergy in suspected cases.

Health-related quality of life in childhood bronchial asthma

Background: Asthma is a public health problem that adversely affects different aspects of quality of life [QoL]. Childhood asthma is common in Egypt and associated with repeated school absenteeism and hospital admission

Objective: To evaluate health-related quality of life [QoL] in children with bronchial asthma in an attempt to identify the most important determinants adversely affecting the QoL

Methods: In this cross-sectional study, 140 children with physician- diagnosed bronchial asthma were clinically evaluated to determine level of asthma control and were administered pediatric asthma quality of life questionnaire [PAQLQ], and questionnaire for the main determinants affecting QoL including sociodemographic, disease-related and patient-related factors

Results: They were 77 males and 63 females whose ages ranged between 7 and 17 years with a mean of 10.2 years. The overall PAQLQ score ranged between 2.22 and 6.61 with a mean +/- SD of 4.08 +/- 1. Uncontrolled asthma was associated with the lowest QoL scores [p

Conclusion: Childhood asthma significantly adversely affects the QoL of the affected children. Control of the main determinants of QoL scores might improve the QoL of these patients

Serum interleukin 27: a possible biomarker of pediatric systemic lupus erythematosus

Systemic lupus erythematosus [SLE] is a complex autoimmune disease; different cytokines play a role in the immunopathogenesis of SLE. IL-27 has both immunosuppressive and pro-inflammatory roles and its role is unclear in SLE. To measure serum interleukin [IL]-27 among a group of patients with pediatric SLE [pSLE] and whether it varies with SLE clinical and laboratory features or with therapy. Fifty patients with pSLE and 25 healthy subjects were included. Routine laboratory and immunological markers of SLE were done. Serum IL-27 was measured by enzyme linked immunosorbent assay for both patients and healthy subjects. Serum IL-27 was significantly lower in patients when compared to healthy subjects [p< 0.001]; 17 patients [34%] had low serum IL-27 [serum IL-27 < 160 pg/ml]. Patients in lupus flare and those in remission had comparable levels [p> 0.05]. Serum IL-27 did not vary significantly between patients with lupus nephritis [LN] and those without evident LN, moreover, it was comparable among different histological classes of LN [p> 0.05]. The disease status in terms of SLE disease activity index was comparable among lupus patients with normal serum IL-27 and those with decreased serum IL-27 [p> 0.05]. Serum IL-27 was not affected significantly with the cumulative doses and the types of the immunosuppressive drugs used [p> 0.05]. Decreased serum IL-27 in SLE might support its involvement in the immune alteration underlying SLE but its exact role remains unclear

A Rare Association Between Leukocyte Adhesion Deficiency Type I and Psoriasis in Humans

The beta2 integrins are expressed exclusively on leukocytes and participate in many immune and inflammatory processes. This subfamily comprises four heterodimeric glycoproteins with a common beta-subunit, designated beta2 (CD18). Spontaneous mutations of the CD18 gene result in leukocyte adhesion deficiency type I (LAD-I). Low level of CD18 expression has also been implicated in the pathogenesis of psoriasis. We here describe a child with recurrent skin infections without pus formation, persistent gingivitis and periodontitis. His blood counts showed persistent leukocytosis (neutrophilia). CD11b expression was defective on neutrophils, while that of CD18 was normal. So, our patient represents a mild variant of LAD-I with possible dysfunctional CD18. Moreover, he developed psoriasis with reduced CD18 expression on CD4+ T-cells. Psoriasiform dermatitis has been described before in association with LAD-I, however, clinically and histologically confirmed psoriasis in association with LAD-I has been described only in CD18 hypomorphic mice. Therefore, our patient represents the first clinically and histopathologically documented association between LAD-I and psoriasis in humans. It lends support to the role of beta2 integrins in the etiopathogenesis of psoriasis.