Anhalt in 1990. He described 5 patients with underlying neoplasms who presented with clinical mucocutaneous lesions resulting from an autoantibody-mediated immune response. 1 The patients exhibited conjunctiva erosion, oral sores, genital ulcers, skin eruption, vesicles, and blisters. The histopathological findings of these lesions were characterized by suprabasilar acantholysis, keratinocytes necrosis, and vacuolar interface change. The coexisting tumors were Abstract Aim: Paraneoplastic pemphigus (PNP) is a mucocutaneous autoimmune disorder accompanied with a neoplasm. Castleman's disease (CD), although rare, is the most common cause of PNP in children. It can be life-threatening when pulmonary involvement occurs. Our study aimed to describe the features of PNP resulting from CD and to find clues for the early diagnosis in pediatric patients. Method: We report the case of a 13-year-old girl who initially presented with oral ulcers and lichen planus, with progression to respiratory failure. A literature review of PNP and CD in children between 1997 and 2016 was performed. The clinical manifestations, pathological findings, treatment, and outcome were analyzed. Results: Thirty-two children were included in our study: 16 boys and 16 girls. Intractable mucocutaneous lesions developed early before CD was diagnosed. The clinical manifestations comprised oral ulcers (100%), polymorphous skin rash (86.7%) and genital (62.5%) erosion. Histopathological findings revealed lymphoplasmacytic cells infiltration (92%), vacuolar interface change (72%), acantholysis (68%), and keratinocytes necrosis (36%). Thirty patients underwent tumor resection. These patients mainly had unicentric CD, with the hyaline-vascular variant dominant. Twenty-six patients (81.2%) exhibited pulmonary involvement. The mortality rate was 70.0%. Among them, 90.5% exhibited pulmonary involvement, and 81.0% died of respiratory failure. Conclusion: Intractable mucocutaneous lesions with a concurrent tumor in children strongly indicate PNP resulting from CD. Because stomatitis or skin erosion may be the first presentation, mucocutaneous tissue biopsy and early detection of the underlying tumor are important. Earlier diagnosis is mandatory for the effective treatment of PNP and pulmonary involvement. K E Y W O R D S bronchiolitis obliterans, Castleman's disease, intravenous immunoglobulin, paraneoplastic pemphigus, pediatric

X-linked agammaglobulinemia (XLA), caused by a mutation in the Bruton's tyrosine kinase ( BTK ) gene, is rarely reported in patients with recurrent hemophagocytic lymphohistiocytosis (HLH). This mutation leads to significantly reduced numbers of circulatory B cells and serum immunoglobulins in patients. Therefore, they exhibit repetitive bacterial infections since infancy, and immunoglobulin (Ig) replacement therapy is the primary treatment. HLH is a life-threatening condition with manifestations of non-remitting fever, hepatosplenomegaly, cytopenias, coagulopathy, lipid disorder, and multiple organ failure. It is caused by the immune dysregulation between cytotoxic T cells, NK cells, and histiocytes. The treatment is based on HLH-2004 protocol including immunotherapy, chemotherapy, supportive therapy, and stem cell transplantation. However, as we know more about the classification and pathophysiology of HLH, the treatment is modified. T-cell-directed immunotherapy is effective in patients with primary HLH, and strong immunosuppression is contraindicated in patients with severe ongoing infections or some primary immunodeficiency diseases (PIDs). Here, we report the case of a 7-year-old boy who presented with ecthyma gangrenosum and several episodes of pyogenic infections during childhood. At the age of 5 years, he exhibited cyclic HLH every 2–3 months. The remission of HLH episodes finally achieved after he received monthly Ig replacement therapy (400 mg/kg) at the 4th HLH. However, transient elevation of IgM was incidentally discovered after 6 cycles of monthly Ig replacement therapy. IgM-secreting multiple myeloma, Waldenström's macroglobulinemia, and lymphoma were excluded. The IgM levels then declined and returned to the normal range within a year. The patient and his parents received whole-genome sequencing analysis. It revealed a novel hemizygous c.1632-1G>A mutation in the BTK gene and XLA was diagnosed. XLA exhibits a spectrum of clinical and immunological presentations in patients. The identification of the mutation in the BTK gene contribute to an accurate diagnosis. Ig replacement therapy is the primary treatment for HLH in patients with XLA.

To study the mode of inheritance of familial bronchial asthma and to understand the population genetics laws of bronchial asthma, Families with a family history of bronchial asthma in Handan region were investigated using group research method. The xi2 test of the degree of coincidence between the expected and observed values was analyzed by pedigree analysis and the "Smith" agonic revise method. The incidence rate within the 72 families pedigree with familial bronchial asthma, including 109 core pedigrees, is 0.46. Analysis shows a tendency towards single gene inheritance. Pedigree analysis reveals that it is consistent with autosome dominant inheritance. Analysis of the D- x dd marriage with the "Smith" analytical method supports this conclusion (xi2 = 3.181, P > 0.05) and further hints there exists genetic heterogeneity, i.e. different modes of inheritance among different marriage types. Our results can offer the reference to the prevention, diagnosis and treatment of familial bronchial asthma.