zithromax and Immunologic-Deficiency-Syndromes

Hypomorphic mutations in nuclear factor kappa B essential modulator (NEMO) cause X-linked ectodermal dysplasia with immunodeficiency (X-ED-ID). Clinical manifestations in boys with X-ED-ID apart from ectodermal dysplasia and immunodeficiency include osteopetrosis, lymphedema, and colitis. Further description of atypical findings in this disorder is needed. Treatment with allogeneic hematopoietic stem cell transplantation (HSCT) is in its infancy, and how or whether non-immune manifestations of defective NEMO function are impacted by HSCT is poorly described. We report an interesting case of a boy with NEMO mutation who had symptoms reminiscent of Omenn's syndrome and small intestinal villous atrophy with features reminiscent of tufting enteropathy. We describe his treatment course as well as reconstitution of immune function and correction of osteopetrosis post-HSCT, and review the cases of allogeneic HSCT reported to date in the literature.

Topics: Anti-Bacterial Agents; Anti-Infective Agents; Anti-Inflammatory Agents; Antifungal Agents; Azithromycin; Cyclosporine; Ectodermal Dysplasia; Fluconazole; Hematopoietic Stem Cell Transplantation; Humans; I-kappa B Kinase; Immunoglobulins, Intravenous; Immunologic Deficiency Syndromes; Immunologic Factors; Immunosuppressive Agents; Infant; Male; Methylprednisolone; Transplantation, Homologous; Treatment Outcome; Trimethoprim, Sulfamethoxazole Drug Combination

Anti-interferon-gamma (IFN-γ) autoantibodies has been recognised as an adult-onset immunodeficiency in the past decade in people who originate from Southeast Asia. These patients are susceptible to particular opportunistic infections, especially non-tuberculous mycobacteria (NTM). We present the case of a woman whom originally came from Thailand with disseminated

Topics: Adult; Anti-Bacterial Agents; Asian People; Autoantibodies; Azithromycin; Bacteremia; Disease Progression; Ethambutol; Female; Humans; Immunologic Deficiency Syndromes; Immunologic Factors; Interferon-gamma; Mycobacterium avium Complex; Mycobacterium avium-intracellulare Infection; Pericarditis; Pleurisy; Pneumonia, Bacterial; Recurrence; Rifampin; Rituximab; Thailand

Genetic studies have led to identification of an increasing number of monogenic primary immunodeficiency disorders. Monoallelic pathogenic gain-of-function (GOF) variants in NFKBIA, the gene encoding IκBα, result in an immunodeficiency disorder, typically accompanied by anhidrotic ectodermal dysplasia (EDA). So far, 14 patients with immunodeficiency due to NFKBIA GOF mutations have been reported. In this study we report three patients from the same family with immunodeficiency, presenting with recurrent respiratory tract infections, bronchiectasis and viral skin conditions due to a novel pathogenic NFKBIA variant (c.106 T > G, p.Ser36Ala), which results in reduced IκBα degradation. Immunological investigations revealed inadequate antibody responses against vaccine antigens, despite hypergammaglobulinemia. Interestingly, none of the studied patients displayed features of EDA. Therefore, missense NFKBIA variants substituting serine 36 of IκBα, differ from the rest of pathogenic GOF NFKBIA variants in that they cause combined immunodeficiency, even in the absence of EDA.

Topics: Adult; Arthritis, Juvenile; Azithromycin; Bronchiectasis; Cell Proliferation; Cells, Cultured; Child; Ectodermal Dysplasia; Gain of Function Mutation; Gentamicins; Humans; Immunologic Deficiency Syndromes; Leukocytes, Mononuclear; Male; Meningitis, Bacterial; Neisseria meningitidis; NF-KappaB Inhibitor alpha; Papillomaviridae; Pedigree; Pseudomonas aeruginosa; Pseudomonas Infections; Virus Diseases; Warts; Young Adult

Although antibody deficiency (AD) is a well-known cause of recurrent respiratory infections, there are few data on its impact in adults with asthma. The objective of the present study was to assess outcomes in adults with severe asthma and AD after treatment with either azithromycin or subcutaneous immunoglobulins (SCIg).. We performed a 5-year, prospective, observational, two-centre study of adults with severe asthma and AD in France. Bronchiectasis was ruled out by high-resolution computed tomography. Patients were treated for one year with either azithromycin (250 mg every other day) or SCIg (0.4-0.6 g/kg/months, weekly). All patients were evaluated for exacerbations, asthma control and lung function at baseline and then one year after treatment initiation.. Thirty-nine patients with severe asthma were included in the study: 14 had been treated with azithromycin and 25 had been treated with SCIg. Before the initiation of treatment for AD, all patients had an Asthma Control Questionnaire (ACQ-7) score > 1.5 (mean ± SD: 2.71 ± 0.53) despite treatment at GINA step 4 or 5, and had a high exacerbation rate requiring oral corticosteroids and/or rescue antibiotics (∼7.2 ± 2.1/patient/year). One year after treatment initiation, we observed a significantly higher FEV1 (mean: 0.18 ± 0.22 L) and ACQ-7 score (1.26 ± 0.68), and a significantly lower exacerbation rate (1.63 ± 1.24/patient/year).. Treatment of AD dramatically improved asthma outcomes - suggesting that adults with severe asthma and recurrent respiratory infections should be screened and (if appropriate) treated for AD.

Topics: Aged; Asthma; Azithromycin; Disease Progression; Female; Humans; Immunoglobulins; Immunologic Deficiency Syndromes; Injections, Subcutaneous; Male; Middle Aged; Prospective Studies; Respiratory Function Tests; Treatment Outcome

Babesiosis is a tick-borne zoonosis. Human cases of babesiosis occur worldwide but have been mainly described in North America and rarely in Europe. The disease manifestations show a broad clinical spectrum including a malaria-like syndrome. Fulminant and life-threatening infections have been described in the setting of asplenia and/or immunosuppression.. A 63-year-old splenectomized patient had been treated with rituximab because of B cell lymphoma. 4 weeks later, he developed signs of infection, anemia, subicterus, and dark urine. Laboratory investigation revealed hemolytic anemia, hemoglobinuria, and renal insufficiency. Blood smears showed Plasmodium-like intraerythrocytic parasites. He had not been exposed to malaria. He had taken frequent walks in the woods around Lake Constance in the south of Germany, where tick-borne diseases are endemic. Babesiosis was confirmed by polymerase chain reaction (PCR) and the parasite was identified as EU1. Serology was negative. Therapy with clindamycin and quinine induced remission. Following a relapse, retreatment with atovaquone and azithromycin was initiated. After several months, seroconversion occurred and the patient cleared the parasite 8 months after first admission.. Human babesiosis does occur in Germany. Patients with splenectomy and/or immunosuppression and malaria-like symptoms should be evaluated for babesiosis by blood smear and PCR.

Topics: Anti-Bacterial Agents; Antibodies, Monoclonal; Antibodies, Monoclonal, Murine-Derived; Antimalarials; Antineoplastic Agents; Atovaquone; Azithromycin; Babesiosis; Drug Therapy, Combination; Humans; Immunologic Deficiency Syndromes; Lymphoma, B-Cell; Male; Middle Aged; Opportunistic Infections; Rituximab; Splenectomy

Cryptosporidium species infection is usually self-limited in immunocompetent populations, but can be severe and life-threatening among immunocompromised individuals, particularly in patients with AIDS and in these patients with primary immunodeficiencies (PIDs).. A group of 5 patients with genetically confirmed hyper-IgM syndrome type 1 (XHIM) and one patient with primary CD4 lymphopenia were enrolled in the study. At least 2 stool samples and a bile sample in one patient were examined for Cryptosporidium oocysts by a modified Ziehl-Neelsen technique, by immunofluorescence assay using a commercial kit, as well as by molecular analysis followed by genotyping. Immunological status at the time of PID diagnosis and the complex picture of disease are presented.. Chronic cryptosporidiosis was confirmed in 3 patients with XHIM and in one patient with primary CD4 lymphopenia. Molecular diagnosis showed the presence of C parvum, C hominis, and C meleagridis in analyzed specimens.. Cryptosporidium infection with serious clinical symptoms observed in patients with hyper-IgM syndrome calls for regular, repeated screening in this group of patients.

Topics: Animals; Anti-Bacterial Agents; Azithromycin; Child; Child, Preschool; Cryptosporidiosis; Cryptosporidium; Fatal Outcome; Female; Hematopoietic Stem Cell Transplantation; Humans; Hyper-IgM Immunodeficiency Syndrome; Immunocompromised Host; Immunoglobulins; Immunologic Deficiency Syndromes; Infant; Male; Paromomycin; Poland; Retrospective Studies; T-Lymphocytopenia, Idiopathic CD4-Positive