International Journal of Health Sciences and Research

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Case Report

Year: 2018 | Month: March | Volume: 8 | Issue: 3 | Pages: 266-270

X-Linked Agammaglobulinemia - Is It Really Rare?

Dr. Asfia Banu Pasha1, Dr. Ya-Yuan Zhang2, Dr. Hui- Ma2, Dr. Hai – Guo Yu2, Dr. Xiao-Qing Chen1, Dr. Guo-Ping Zhou1

1Jiangsu Province Hospital, the First Affiliated Hospital, Nanjing Medical University
2Children’s Hospital Affiliated to Nanjing Medical University, 210008, Jiangsu Province, China

Corresponding Author: Dr. Ya-Yuan Zhang


Background - X-Linked Agammaglobulinemia (XLA) is a disease of the immune system in which there is defective development of the B lymphocytes due to which the production of gamma globulins is markedly reduced; which results in immunodeficiency and high vulnerability to contract fatal infections. This is the reason for which a patient with XLA presents with history of recurrent infections. XLA is known to be caused due to a mutation in the BTK gene. BTK gene mutation observed on gene mapping, markedly reduced levels of B lymphocytes and immunoglobulins; are the confirmatory laboratory findings for the diagnosis of XLA. As there is immunodeficiency in the patient, this condition is treated with intravenous immunoglobulin therapy.
In this article, two cases with XLA have been described. Over a period of one month, two cases of XLA were admitted at the hospital. This is to pay attention to the fact that XLA is a rare condition, accounting to 1 in 200,000 live births. In view of its rarity, the two cases have been reported ahead in the article.
Methods - Two patients who were a known case of X Linked Agammaglobulinemia were reviewed in detail. Their records were reviewed and appropriate clinical data collected. The serum levels of immunoglobulins and B lymphocytes of these patients were thoroughly evaluated. BTK gene screening was also analysed to confirm the diagnosis of XLA.
Results - Two patients who were previously diagnosed with XLA came to our hospital with complaints of recurrent respiratory tract infections. One patient, a 12 years old boy admitted with complaints of cough with expectoration and fever, was found to have low levels of B lymphocytes, IgM and IgA. His mother and elder brother were already diagnosed with XLA. The second patient , a 10 years old boy who got admitted at the hospital with fever and cough, has low levels of B lymphocytes, IgM and IgA, Gene screening showed BTK gene mutation. His mother is a known case of XLA confirmed with BTK gene mutation on screening.
Conclusion - The two cases mentioned in this case report represent X-Linked Agammaglobulinemia, which is a rare disease with an occurrence rate of 1 in 200,000 live births. These two cases were reported at our hospital in duration of two weeks. Paying attention to the fact of the rarity of this condition, the admission of two patients with a rare disease as XLA, within such a short duration of time, claims the consideration of these cases to be reported. Implications on detecting female carriers in the family, counselling of the family members, and early diagnosis and treatment of affected males in the family; are all important aspects associated with the diagnosis of XLA in a patient.

Key words: X-Linked Agammaglobulinemia (XLA), BTK gene mutation.

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