X-Linked Agammaglobulinemia Diagnosed in Adulthood: A Case Report

Mitsui, Takeki; Tsukamoto, Norifumi; Kanegane, Hirokazu; Agematsu, Kazunaga; Sekigami, Tomomi; Irisawa, Hiroyuki; Saitoh, Takayuki; Uchiumi, Hideki; Handa, Hiroshi; Maekawa, Takafumi; Karasawa, Masamitsu; Murakami, Hirokazu; Miyawaki, Toshio; Nojima, Yoshihisa

doi:10.1532/ijh97.06095

Cited by 11 publications

(5 citation statements)

References 24 publications

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“…Some authors indicated later onset of Clinical and immunological analysis of patients with X-linked agammaglobulinemia: single center experience symptoms in few cases -over 7 years of age [3]. Usuiu et al described a 27-year-old male with mild course of the disease and recurrent pneumonias since the age of 25 [7]. One of our patients had quite high IgG levels, reaching 0.4 g/l, in four -B lymphocytes reached 2% and more.…”

Section: Discussionmentioning

confidence: 56%

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Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Pac¹,

Mikołuć²,

Pietrucha³

et al. 2013

cejoi

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The retrospective analysis of a immunological and clinical survey in 33 boys g/l). The total number of B cells was decreased and varied between 0-391 cells/µl, with the mean value of 26 cells/µl and 0.65%. The replacement therapy with intravenous immunoglobulin (IVIG) preparation was also delayed, and introduced at the mean age of 3 years 5 months. In some patients it was followed with subcutaneous immunoglobulin (SCIG

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Section: Discussionmentioning

confidence: 56%

“…The diagnosis is delayed due to less severe or even atypical courses of infection. Some authors report the diagnosis of XLA in adult patients [7,8].…”

Section: Introductionmentioning

confidence: 99%

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Pac¹,

Mikołuć²,

Pietrucha³

et al. 2013

cejoi

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“…As an example, X-linked agammaglobulinemia, a disorder leading to profound loss of B cells, may present atypically or later in life [33,73,95,96,97,98,99,100,101,102,103,104,105,106,107] while CD40 ligand deficiency may present with deceptively unimpressive IgM levels [29]. Similarly, X-linked lymphoproliferative disorders may mimic CVID in men [108,109,110,111].…”

Section: Monogenic Disorders Mimicking Cvidmentioning

confidence: 99%

Common Variable Immunodeficiency: Etiological and Treatment Issues

Deane

Selmi

Naguwa

et al. 2009

Int Arch Allergy Immunol

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One of the great advances in clinical medicine was the recognition of the pleomorphism of the immune response and the multiple afferent and efferent limbs of antigen processing and responsiveness. A significant contribution to this understanding was derived from studies of human immunodeficiency states, including both inherited and acquired syndromes. Amongst these syndromes, one of the most common, and least understood, is common variable immune deficiency (CVID). CVID is a syndrome that leads to a reduction in serum immunoglobulins and complications including recurrent infections. Management includes immunoglobulin replacement therapy; however, patients with CVID are at risk for complications of exogenous immunoglobulin administration as well as CVID-associated diseases such as autoimmune processes and malignancies. To assess the current state of knowledge in the field, we performed a literature review of a total of 753 publications covering the period of 1968 until 2008. From this list, 189 publications were selected for discussion. In this review, we demonstrate that while the molecular basis of CVID in many cases remains incompletely understood, significant strides have been made and it is now clear that there is involvement of several pathways of immune activation, with contributions from both T and B cells. Furthermore, despite the current gaps in our knowledge of the molecular pathogenesis of the syndrome, there have been dramatic advances in management that have led to improved survival and significantly reduced morbidity in affected patients.

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“…There have been several reports of atypical cases of XLA that were diagnosed in adulthood 1–3 . In those cases, Ig levels were moderately low and the patients did not suffer from any severe infection during their childhood.…”

Section: Serum Ig Levels and Mutations Of Btkmentioning

confidence: 99%

“…We reviewed nine Japanese patients with adult‐onset XLA, including our case (P9) (Table 1). 1–3 We classified these patients into the severe and the less severe group. The alignment of BTK families discloses that L32, T33 and R525 are highly conserved, but Y598 is not conserved (Fig.…”

Section: Serum Ig Levels and Mutations Of Btkmentioning

confidence: 99%

Atypical case of X‐linked agammaglobulinemia diagnosed at 45 years of age

Fujioka

Kawashima

Nishimata

et al. 2011

Pediatrics International

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X-linked agammaglobulinemia (XLA) is a humoral inherited immunodeficiency, and mutations in Bruton's tyrosine kinase (BTK) gene have been identified to be responsible for XLA. We describe an atypical Japanese case of XLA diagnosed at 45 years of age. We think that it is the oldest case in Japan so far.A 45-year-old man was referred to our hospital because of recurrent bacterial infections. His family history demonstrated no Correspondence: Tao Fujioka, MD, Fig. 1 (a) Flow cytometric detection of BTK in monocytes from a normal donor and the patient. The closed and dashed lines indicate staining with anti-BTK (48-2H) and control immunoglobulin (Ig) G1 monoclonal antibodies in CD14-gated monocytes, respectively. (b) The alignment of the BTK family of tyrosine kinases (human ITK, TEC, BTK and BMX). Amino acids conserved in all four proteins are shown in colored boxes. Arrows indicate L32, T33, R525 and Y598, which are mutated in the adult-onset X-linked agammaglobulinemia patient.episodes of recurrent infections. He had become febrile once a month in his childhood. He was hospitalized at 8 years of age for about 1 year to investigate, however a clear diagnosis was not determined. The frequency of fever decreased to once a year after he turned 15 years old.At the age of 42 years, he was admitted because of fever and headache, and was diagnosed as having bacterial meningitis. Streptococcus anginosus was detected by blood and cerebrospinal fluid culture examination. After he was discharged he suffered from bacterial meningitis, coxitis and spondylitis. Because of recurrent serious bacterial infections, immunological studies were done at the age of 45 years. Laboratory tests were as follows: white blood cells, 4800/mL (neutrophils 62.6%, eosinophils 3.3%, basophils 0.6%, monocytes 12.4%, and lymphocytes 21.1%); hemoglobulin, 14.7 g/dL; platelets, 239 ¥ 10 3 /mL; serum immunoglobulin (Ig) G, IgA and IgM levels, 679 (normal range: 870-1700), 570 (110-410), and 17 (35-220) mg/dL, respectively. Serum IgE and allergen-specific IgE for cedar pollen and alternaria was detected. The percentage of T cells and B cells in peripheral blood were 85% and 1%, respectively. Flow cytometric analysis of the peripheral monocytes using the anti-BTK antibody showed BTK deficiency (Fig. 1a). The patient's BTK gene was sequenced and disclosed a nonsense mutation (637G>T, E169X) in exon 6, which has not been reported in the BTK database (http://bioinf.uta.fi/BTKbase/).There have been several reports of atypical cases of XLA that were diagnosed in adulthood. 1-3 In those cases, Ig levels were moderately low and the patients did not suffer from any severe infection during their childhood. Kanegane et al. 1 reported that higher concentrations (>300 mg/dL) of serum IgG were evident in the cases diagnosed among adults. Genotypephenotype correlations in XLA have been studied, 4,5 but have not been established clearly. classified the mutations of Spanish XLA patients according to their severity on the basis of the proposal by Conley and Howard 5 to...

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X-Linked Agammaglobulinemia Diagnosed in Adulthood: A Case Report

Cited by 11 publications

References 24 publications

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Common Variable Immunodeficiency: Etiological and Treatment Issues

Atypical case of X‐linked agammaglobulinemia diagnosed at 45 years of age

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