Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.

B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency.

Juvenile idiopathic arthritis in Jordan: single center experience.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of disorders, including all forms of arthritis, which develops in children who are less than 16 years old. This study aimed to evaluate the clinical and laboratory features of JIA in a single center in Jordan. METHODS: A retrospective analysis of the electronic medical records of Pediatric patients diagnosed with JIA based on the International League of Associations for Rheumatology (ILAR) criteria during the period from 2015 to 2019 at the Pediatric Rheumatology Clinic in the Queen Rania Children's Hospital. All patients were below the age of 14 years at the time of diagnosis and followed for at least 6 months. Collected data consisted of age, gender, age at initial presentation and diagnosis, JIA subtype, laboratory data, treatment options, and outcome. RESULTS: A total of 210 patients were included in this cohort (94 males and 116 females) with the mean age at diagnosis and mean age at onset of 5.33 ± 3.40 years and 5.08 ± 3.40 years (range: 7 months - 14 years), respectively. Oligoarticular JIA was the commonest subtype (54.7%), followed by systemic arthritis (17.1%) and polyarticular arthritis (12.3%). ANA was positive in 70 patients (33.6%). Uveitis occurred in 30 (14.2%) patients. CONCLUSION: To the best of our knowledge, this study on this cohort is the first report on JIA in Jordan, in comparison with other regionally and internationally published reports. Oligoarticular JIA was found to be the most common subtype. For detailed knowledge on JIA characteristics and patterns, a population-based, rather than a single center study, should be conducted in Jordan.

Primary antibody deficiencies at Queen Rania Children Hospital in Jordan: single center experience.

BACKGROUND: Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies. OBJECTIVE: This retrospective study aimed at description and analysis of demographic, clinical, immunological features and complications of subjects diagnosed with primary antibody deficiency at a referral center in Jordan. METHODS: The medical records of pediatric patients who were diagnosed as primary antibody deficiency (PAD) during the period from January 2006 to June 2013 were reviewed. Patients were diagnosed as PADs based on the Pan-American Group for Immunodeficiency (PAGID) and the European Society for Immunodeficiency (ESID) diagnostic criteria. RESULTS: A total number of 53 patients with PAD were identified; 37(70%) males and 16(30%) females, 16(30%) patients with congenital agammaglobulinemia, 16(30%) patients with common variable immunodeficiency, 4(7.5%) patients with IgG subclass deficiency, 10(19%) cases with transient hypogammaglobulinemia of infancy and 7(13.5%) patients as undefined PAD. The most common infection among patients was pneumonia (62%); followed by suppurative otitis media in 49% of patients. Cytopenia was the most noted autoimmune association and was found at prevalence of 22 %, other autoimmune associations (17%) including inflammatory arthritis, discoid lupus, inflammatory bowel disease, vasculitis and celiac disease. The prevalence of long-term complications was 58%, the most frequent ones were; stunted growth in 13%, bronchiectasis and lymphoproliferation in 11% for each. CONCLUSIONS: Our results indicated that congenital agammaglobulinemia and common variable immunodeficiency are the most frequent primary antibody deficiency in our patients. The awareness of families, general population as well as primary health physicians is crucial in the establishment of early diagnosis and prompt commencement of appropriate therapy for PADs.