Recurrent pyogenic meningitis in a 17-year-old: A delayed presentation of X-linked agammaglobulinemia with growth hormone deficiency

Sabnis, Girish; Karnik, Niteen D; Chavan, Swati; Korivi, Deepa

doi:10.4103/0028-3886.82768

Cited by 4 publications

(3 citation statements)

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“…304,305 Infections can be mild or occur late in life. 314,315 In all cases the number of peripheral blood CD19 1 B cells is low. Discordant phenotypes can also be observed in siblings and families with identical BTK mutations.…”

Section: Combined B-and T-cell Immunodeficienciesmentioning

confidence: 92%

“…Some patients are not recognized to have XLA or other forms of agammaglobulinemia until after 5 years of age despite the presence of frequent infections and recurrent antibiotic use; others have a milder clinical phenotype and are recognized only later in life. 314,315 The physical examination of patients with agammaglobulinemia usually reveals absence of lymph nodes and tonsils distinct from other forms of antibody deficiency. Small or absent tonsils can also be seen in patients with some CIDs and other congenital agammaglobulinemias.…”

Section: Combined B-and T-cell Immunodeficienciesmentioning

confidence: 99%

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Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

587

494

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The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion.

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Section: Combined B-and T-cell Immunodeficienciesmentioning

confidence: 92%

Section: Combined B-and T-cell Immunodeficienciesmentioning

confidence: 99%

Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

587

494

View full text Add to dashboard Cite

show abstract

“…We reported a single center experience on 36 patients with XLA from Chandigarh, India in 2016 (9). Apart from this, literature on XLA from India is limited to single cases report and a small case series (10)(11)(12)(13)(14)(15)(16)(17)(18)(19). Clinical profile of patients with XLA may vary from one country to another (20).…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India

et al. 2021

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BackgroundThere is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.MethodsData on XLA from all regional centers supported by the Foundation for Primary Immunodeficiency Diseases (FPID), USA and other institutions providing care to patients with PIDs were collated. Diagnosis of XLA was based on European Society for Immunodeficiencies (ESID) criteria.ResultsWe received clinical details of 195 patients with a provisional diagnosis of XLA from 12 centers. At final analysis, 145 patients were included (137 ‘definite XLA’ and eight ‘probable/possible XLA’). Median age at onset of symptoms was 12.0 (6.0, 36.0) months and median age at diagnosis was 60.0 (31.5, 108) months. Pneumonia was the commonest clinical manifestation (82.6%) followed by otitis media (50%) and diarrhea (42%). Arthritis was seen in 26% patients while 23% patients developed meningitis. Bronchiectasis was seen in 10% and encephalitis (likely viral) in 4.8% patients. Pseudomonas aeruginosa was the commonest bacterial pathogen identified followed by Streptococcus pneumoniae, Staphylococcus aureus and Klebsiella pneumoniae. Molecular analysis revealed 86 variants in 105 unrelated cases. Missense variants in BTK gene were the most common (36%) followed by frameshift (22%) and nonsense variants (21%). Most pathogenic gene variants (53%) were clustered in the distal part of gene encompassing exons 14–19 encoding for the tyrosine kinase domain. Follow-up details were available for 108 patients. Of these, 12% had died till the time of this analysis. The 5-year and 10-year survival was 89.9% and 86.9% respectively. Median duration of follow-up was 61 months and total duration of follow-up was 6083.2 patient-months. All patients received intravenous immunoglobulin (IVIg) replacement therapy. However, in many patients IVIg could not be given at recommended doses or intervals due to difficulties in accessing this therapy because of financial reasons and lack of universal health insurance in India. Hematopoietic stem cell transplant was carried out in four (2.8%) patients.ConclusionThere was a significant delay in the diagnosis and facilities for molecular diagnosis were not available at many centers. Optimal immunoglobulin replacement is still a challenge

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