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[Hyper-immunoglobulin E syndrome: report of one case].

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[Hyper-immunoglobulin E syndrome: report of one case].

Rev Med Chil. 2015 Jun;143(6):801-4

Authors: Aguilera G, Cárcamo G, Sepúlveda J, Vinet AM, Martínez C

Abstract
The Hyperimmunoglobulin E syndrome (HIES) is a rare sporadic or autosomal dominant immune and connective tissue disorder characterized by chronic eczema, cutaneous abscesses, pneumonias, invasive infections, high levels of Immunoglobulin E, primary teeth retention and bone abnormalities. We report a 24-year-old male with a history of cutaneous abscesses and esophageal candidiasis. He was admitted due to a left gluteal cellulitis. During the fifth day of hospitalization he presented a distal necrosis of the fourth finger of the right hand. Laboratory results showed high levels of IgE and positive cryoglobulins. The patient was discharged and was admitted again five days later with a new gluteal abscess. IgE levels were even higher. Applying Grimbacher scale, the diagnosis of Hyperimmunoglobulin E syndrome was reached.

PMID: 26230564 [PubMed – indexed for MEDLINE]

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Methylotroph Infections and Chronic Granulomatous Disease.

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Methylotroph Infections and Chronic Granulomatous Disease.

Emerg Infect Dis. 2016 Mar;22(3):404-409

Authors: Falcone EL, Petts JR, Fasano MB, Ford B, Nauseef WM, Neves JF, Simões MJ, Tierce ML, de la Morena MT, Greenberg DE, Zerbe CS, Zelazny AM, Holland SM

Abstract
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by a defect in production of phagocyte-derived reactive oxygen species, which leads to recurrent infections with a characteristic group of pathogens not previously known to include methylotrophs. Methylotrophs are versatile environmental bacteria that can use single-carbon organic compounds as their sole source of energy; they rarely cause disease in immunocompetent persons. We have identified 12 infections with methylotrophs (5 reported here, 7 previously reported) in patients with CGD. Methylotrophs identified were Granulibacter bethesdensis (9 cases), Acidomonas methanolica (2 cases), and Methylobacterium lusitanum (1 case). Two patients in Europe died; the other 10, from North and Central America, recovered after prolonged courses of antimicrobial drug therapy and, for some, surgery. Methylotrophs are emerging as disease-causing organisms in patients with CGD. For all patients, sequencing of the 16S rRNA gene was required for correct diagnosis. Geographic origin of the methylotroph strain may affect clinical management and prognosis.

PMID: 26886412 [PubMed – as supplied by publisher]

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The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.

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The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency.

Fetal Pediatr Pathol. 2016 Feb 16;:1-4

Authors: Martin J, Sharma R, Nelson RP, Schubert F, Weida J

Abstract
BACKGROUND: The cause of primary immunodeficiency has expanded to nearly 200 distinct disorders. An improved understanding of these disorders has resulted in decreased morbidity and mortality with reciprocal improved life expectancy. Obstetricians should have knowledge of primary immunodeficiency, as more women with these disorders will reach reproductive age.
CASE: 21-year-old G1P0 with purine nucleoside phosphorylase (PNP) deficiency delivered a viable infant vaginally at 37 weeks. Although the patient’s diagnosis and pregnancy placed her at increased risk for infection, she remained asymptomatic and infection-free throughout pregnancy.
CONCLUSION: The management of pregnancy complicated by PNP deficiency requires strict immune surveillance and regimented immunoglobulin replacement.

PMID: 26882246 [PubMed – as supplied by publisher]

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[Auto-immune hepatitis in chronic granulomatous disease in a 2-year-old girl].

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[Auto-immune hepatitis in chronic granulomatous disease in a 2-year-old girl].

Arch Pediatr. 2015 May;22(5):518-22

Authors: Gargouri L, Safi F, Mejdoub I, Maalej B, Mekki N, Mnif H, Ben Mustapha I, Barbouche MR, Boudawara T, Mahfoudh A

Abstract
BACKGROUND: Chronic granulomatous disease is a rare inherited primary immune deficiency disease characterized by recurrent infection and an increased susceptibility to autoimmunity disorders. We report on the case of a girl with autoimmune hepatitis in chronic granulomatous disease to describe the clinical and biological features and treatment implications for patients with chronic granulomatous disease associated with autoimmune disorders.
CASE REPORT: An 18-month-old girl was referred to our department for investigation of hepatomegaly. She was the third child of non-consanguineous parents. Her two elder sisters had died from infectious diseases at an early age. She had elevated liver transaminase levels with a normal gamma globulin concentration. Negative results were found for all autoimmune markers (antinuclear antibody, anti-smooth muscle, anti-liver-kidney microsomal, anti-liver cytosol and anti-soluble liver antigen). Her liver biopsy showed features of interface hepatitis with portal fibrosis. The diagnosis of seronegative autoimmune hepatitis was established. Treatment with corticosteroids and azathioprine led to clinical improvement with normalization of transaminases. Six months after initial presentation, at the age of 2 years, she was readmitted for fever. Staphylococcus aureus bacteremia was identified with multiple foci of infection (skin infection, arthritis of the right elbow, pneumonia, buttock abscess). The immunological workup revealed chronic granulomatous disease. The course was marked by a fatal outcome despite appropriate antibiotics and intensive care.
CONCLUSION: Early diagnosis of the association between chronic granulomatous disease and autoimmune disorders allows for appropriate treatments, improves the quality of life for affected patients, and reduces the risk of mortality.

PMID: 25800633 [PubMed – indexed for MEDLINE]

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Stem cell transplantation for the treatment of immunodeficiency in children: current status and hopes for the future.

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Stem cell transplantation for the treatment of immunodeficiency in children: current status and hopes for the future.

Expert Rev Clin Immunol. 2016 Feb 16;

Authors: Booth C, Silva J, Veys P

Abstract
Primary immunodeficiencies (PID) are rare inherited disorders affecting immune function and can be life-threatening if not treated. Haematopoietic stem cell transplantation (HSCT) offers a curative approach for many of these disorders and gene therapy is increasingly used as an alternative therapeutic strategy for patients lacking a suitable donor. Early diagnosis, improved supportive care and advances in gene and cell therapies have resulted in increased survival rates and improved quality of life. This review describes current strategies employed to improve outcomes in PID, focusing on new developments in HSCT, gene and cell therapy. We also address the challenges associated with newborn screening (NBS) programmes and novel mutations identified through improved diagnostic technology.

PMID: 26882211 [PubMed – as supplied by publisher]

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Doctors' awareness concerning primary immunodeficiencies in Brazil.

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Doctors’ awareness concerning primary immunodeficiencies in Brazil.

Allergol Immunopathol (Madr). 2015 May-Jun;43(3):272-8

Authors: Dantas EO, Aranda CS, Rêgo Silva AM, Tavares FS, Severo Ferreira JF, de Quadros Coelho MA, de Siqueira Kovalhuk LC, Roxo Júnior P, Toledo EC, Porto Neto AC, de Sousa Vieira HM, Takano OA, Nobre FA, Sano F, Nudelman V, de Farias Sales VS, Silva Segundo GR, Villar Guedes HT, Félix E, Marques SM, Mazzucchelli JT, Wandalsen NF, Pinto JA, Paes Barreto IC, Silva MR, Rullo VE, Franco JM, Damasceno E, Fahl K, de Moraes-Pinto MI, Del Nero DL, Moraes LS, Condino-Neto A, Vilela MM, Góes H, Schisler KL, Miranda E, Goudouris ES, Costa Carvalho BT

Abstract
BACKGROUND: PIDs are a heterogeneous group of genetic illnesses, and delay in their diagnosis is thought to be caused by a lack of awareness among physicians concerning PIDs. The latter is what we aimed to evaluate in Brazil.
METHODS: Physicians working at general hospitals all over the country were asked to complete a 14-item questionnaire. One of the questions described 25 clinical situations that could be associated with PIDs and a score was created based on percentages of appropriate answers.
RESULTS: A total of 4026 physicians participated in the study: 1628 paediatricians (40.4%), 1436 clinicians (35.7%), and 962 surgeons (23.9%). About 67% of the physicians had learned about PIDs in medical school or residency training, 84.6% evaluated patients who frequently took antibiotics, but only 40.3% of them participated in the immunological evaluation of these patients. Seventy-seven percent of the participating physicians were not familiar with the warning signs for PIDs. The mean score of correct answers for the 25 clinical situations was 48.08% (±16.06). Only 18.3% of the paediatricians, 7.4% of the clinicians, and 5.8% of the surgeons answered at least 2/3 of these situations appropriately.
CONCLUSIONS: There is a lack of medical awareness concerning PIDs, even among paediatricians, who have been targeted with PID educational programmes in recent years in Brazil. An increase in awareness with regard to these disorders within the medical community is an important step towards improving recognition and treatment of PIDs.

PMID: 25796303 [PubMed – indexed for MEDLINE]

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