Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India
Клинический и генетический профиль X-сцепленной агаммаглобулинемии: многоклинический опыт из Индии
2021-01-15
SCID: 54.1/9x6ar5hp
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IndiaX-Linked Agammaglobulinemiaclinical profilediagnostic delaygenetic profileimmunoglobulin replacementmolecular diagnosismulticenter study
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Abstract (AI)
There 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.
Key Findings
1
Molecular diagnostic facilities for X-linked agammaglobulinemia are unavailable at many centers in India.
2
Providing optimal immunoglobulin replacement therapy for X-linked agammaglobulinemia remains a challenge in this setting.
3
There is a significant delay in diagnosis of X-linked agammaglobulinemia among the multicenter cohort in India.
Research Object
X-linked agammaglobulinemia patients in India (multicenter cohort)
Research Subject
Clinical and genetic profile including diagnostic delays and availability of molecular diagnosis and challenges in optimal immunoglobulin replacement
Publication Details
Publication Date
2021-01-15
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