Abstract | BACKGROUND: X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton's tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosis of XLA can be a challenge in certain patients who have near-normal levels of serum immunoglobulin. Furthermore, reports on XLA with renal involvement are scant. CASE PRESENTATION: CONCLUSIONS: We suggest that B-lymphocyte surface antigen studies and a BTK mutation analysis should be performed in familial patients with selective IgM deficiency to rule out atypical XLA.
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Authors | Lee-Moay Lim, Jer-Ming Chang, I-Fang Wang, Wei-Chiao Chang, Daw-Yang Hwang, Hung-Chun Chen |
Journal | BMC pediatrics
(BMC Pediatr)
Vol. 13
Pg. 150
(Sep 27 2013)
ISSN: 1471-2431 [Electronic] England |
PMID | 24074005
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Antigens, Differentiation, B-Lymphocyte
- Immunoglobulin M
- Mycophenolic Acid
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Topics |
- Agammaglobulinemia
(diagnosis, genetics)
- Antigens, Differentiation, B-Lymphocyte
(analysis)
- Child
- Genetic Diseases, X-Linked
(genetics)
- Humans
- Immunoglobulin M
(deficiency, genetics)
- Male
- Mycophenolic Acid
(analogs & derivatives, therapeutic use)
- Nephritis
(drug therapy, etiology)
- Proteinuria
(etiology)
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