Late diagnosis of chronic granulomatous disease.

Modern era advancements in medical care, with improved treatment of infections, can result in delayed diagnosis of congenital immunodeficiencies. In this study we present a retrospective cohort of 16 patients diagnosed with Chronic Granulomatous Disease (CGD) at adulthood. Some of the patients had a milder clinical phenotype, but others had a classic phenotype with severe infectious and inflammatory complications reflecting a profoundly impaired neutrophil function. It is therefore of great importance to investigate the individual journey of each patient through different misdiagnoses and the threads which led to the correct diagnosis. Currently the recommended definitive treatment for CGD is hematopoietic stem cell transplantation (HSCT). Although survival of our patients to adulthood might argue against the need for early HSCT during infancy, we claim that the opposite is correct, as most of them grew to be severely ill and diagnosed at a stage when HSCT is debatable with potentially an unfavorable outcome. This cohort stresses the need to increase awareness of this severe congenital immunodeficiency among clinicians of different specialties who might be treating undiagnosed adult patients with CGD.

MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family.

Manifestations of immunodeficiency within the same family are presumed to be the same disease. We report a consanguineous extended family where four patients have immunodeficiency, three have X-linked agammaglobulinaemia and one has major histocompatibility complex class 2 deficiency. Within one family, two rare genetic diseases with similar clinical manifestations can occur.

Beta lactam allergy and resensitization in children with suspected beta lactam allergy.

BACKGROUND: In patients who were clinically diagnosed as having beta lactam allergy and had negative skin tests, the rates of reported resensitization to beta lactams after subsequent exposures, vary significantly. Some allergists advocate skin testing before every exposure to beta lactams. OBJECTIVE: We sought to determine the true rate of beta lactam allergy and of resensitization in children with a positive history for suspected beta lactam allergy. METHODS: The study was conducted from July 1998 to May 2004, with follow-up during 2007. Beta lactam allergy tests with the major determinant and freshly prepared minor determinant mixtures were offered to history positive children. Negative skin tests were followed by oral challenge. The tests were performed again 1-5 months later in order to address the possibility of resensitization. RESULTS: Tests were performed on 166 children: 150 for penicillins alone, 14 for penicillin in combination with cephalosporins, and an additional 2 patients solely for cephalosporins. Only 10 children (6%) were positive in the initial evaluation, four by skin test and six by oral challenge. A second set of tests was performed in 98 children with a negative initial evaluation; only two children (2%) were resensitized. On a follow-up survey of 71 of the 96 patients, 59 (83%) had received beta lactams; only one had developed a minor rash after subsequent exposure to amoxicillin. CONCLUSIONS: Most children with suspected beta lactam allergy were not allergic to beta lactams. Resensitization to beta lactam antibiotics in children in this study was infrequent. In children with a clinical diagnosis of beta lactam allergy and negative skin tests, repeated skin testing before every exposure is usually unnecessary.

Outcome of "out of hospital" cardiopulmonary arrest in children admitted to the emergency room.

BACKGROUND: The outcome of cardiopulmonary arrest in children is poor, with many survivors suffering from severe neurological defects. There are few data on the survival rate following cardiopulmonary arrest in children who arrived at the emergency room without a palpable pulse. OBJECTIVE: To determine the survival rate and epidemiology of cardiopulmonary arrest in children who arrived without a palpable pulse at a pediatric ER in southern Israel. METHODS: We retrospectively reviewed the medical records of all patients with cardiopulmonary arrest who arrived at the ER of the Soroka University Medical Center during the period January 1995 to June 1997. RESULTS: The study group included 35 patients. Resuscitation efforts were attempted on 20, but the remaining 15 showed signs of death and were not resuscitated. None of the patients survived, although one patient survived the resuscitation but succumbed a few hours later. The statistics show that more cardiopulmonary arrests occurred among Bedouins than among Jews (32 vs. 3, P < 0.0001). CONCLUSIONS: The probability of survival from cardiopulmonary arrest in children who arrive at the emergency room without palpable pulse is extremely low. Bedouin children have a much higher risk of suffering from out-of-hospital cardiopulmonary arrest than Jewish children.