[The principle and practice of vidian neurectomy].

The latest research findings on bidirectional regulation of neuro-immunity through traditional neural circuits shed new light on the theoretical basis of the role of vidian neurectomy (VN). This article aims to provide a comprehensive understanding of VN, including the history of VN, the principle of neuroimmuno-interaction, the applied anatomy of VN as well as the methods of transnasal endoscopic surgery. Additionally, we introduce the concept of the nose-brain axis, which was proposed based on the advancement in the area of neuro-immune interactions.

[Clinical analysis of 12 cases of laryngeal neuroendocrine carcinoma].

Objective: To investigate the clinical and pathological features, treatments and prognosis of laryngeal neuroendocrine carcinoma (LNEC). Methods: We conducted the retrospective analysis of the clinical data of 12 patients with LNEC admitted to the Department of Otorhinolaryngology Head and Neck Surgery, Second Hospital of Shanxi Medical University from May 2014 to December 2021, including 9 males and 3 females, aged 50-77 years. There were 4 cases of typical carcinoid tumour (highly differentiated), 5 cases of atypical carcinoid tumour (moderately differentiated) and 3 cases of neuroendocrine small cell carcinoma (hypofractionated). The clinical features, diagnosis, treatment and prognosis of LNEC were analysed. Results: The clinical manifestations of LNEC varied according to the tumour type but did not correlate with the pathological types. The supraglottic type was characterized by sore throat, foreign body sensation in the pharynx, coughing, obstructive sensation when eating and choking on water. The treatments were determined according to the pathological types, lesion location and invasion scope. Of 12 patients 4 underwent horizontal partial laryngectomy plus elective lymphatic dissection plus postoperative radiotherapy/chemotherapy, 4 underwent vertical partial laryngectomy (3 of them with cervical lymphatic dissection), 3 underwent supported laryngoscopic plasma laryngectomy for laryngeal cancer, and 1 abandoned for treatment. With the follow-up of 8 -78 months, 5 patients were alive, 1 died from chemotherapy reactions, 3 died from other diseases, 1 died from lung metastasis, 1 died from lung infection and 1 was lost to follow-up. Conclusion: LNEC is clinically rare, the clinical manifestations are less specificity, diagnosis relies on pathological and immunohistochemical examinations, and treatment modalities and prognoses are closely related to the pathological subtypes of LNEC.

[Intravenous immunoglobulin replacement therapy in 114 cases of congenital agammaglobulinemia].

Objective: To analyze the clinical characteristics of congenital agammaglobulinemia and the efficacy of intravenous immunoglobulin (IVIG) replacement therapy for this disease. Methods: The basic characteristics, clinical manifestations, laboratory examinations, and outcomes of 114 patients with congenital agammaglobulinemia diagnosed in Children's Hospital of Chongqing Medical University from January 1988 to April 2020 were retrospectively analyzed. The efficacy of IVIG in improving the clinical symptoms between regular and irregular treatment groups were compared by χ2 test. To explore the clinical characteristics associated with delayed diagnosis and treatment, the patients were also stratified into following subgroups: non-cough, short-term cough and long-term cough groups, chronic lung disease and non-chronic lung disease groups, and arthritis and non-arthritis groups. The age at onset, age at diagnosis, time consumed for diagnosis, initial time of immunoglobulin replacement, dose of IVIG, IgG trough level between the above groups were compared by t test, F test or non-parametric test. Results: All the 114 patients were male, with the onset age of (22±18) months. The age at diagnosis was (89±54) months, time consumed in diagnosis was (63±46) months, and the initial time of immunoglobulin replacement was (75±45) months. A total of 66 patients had been followed up to April 2020, with a follow-up period of (54±41) months. Among these children, 42 (63.6%) received regular infusion, whose monthly IVIG dose was (538±105) mg/kg and IgG trough level was (5.8±1.5) g/L, whereas 24 patients (36.4%) were treated irregularly. There was no significant difference in the improvement rate of fever, cough, sinusitis, diarrhea, otitis media and arthritis between regular and irregular IVIG replacement groups (all P>0.05). Sixty-one out of the 66 patients (92.4%) had fever before IVIG treatment, whose fever episodes were significantly decreased after IVIG treatment (5 (2,12) vs. 0 (0, 1) per year, Z =-6.436, P<0.01). Sixty patients (90.9%) suffered from wet cough before treatment and 36 (54.5%) after treatment. Initial time of immunoglobulin replacement was significantly delayed in the long-term cough (27 cases) and short-term cough groups (9 cases) compared with non-cough group (18 cases) ((97±51) vs. (64±41) vs. (63±42) months, F=3.554, P=0.035). Twenty-nine patients (43.9%) were diagnosed with chronic lung disease, whose initial time of immunoglobulin replacement (103 (75,144) vs. 46 (26,64) months, Z=-4.330, P<0.01), age at diagnosis (103 (75,142) vs. 47 (31,68) months, Z=-3.486, P<0.01), and time consumed in diagnosis (91 (55,129) vs. 29 (10,41) months, Z =-4.386, P<0.01) were significantly later and longer than those in children without chronic lung disease (37 cases). In addition, thirty-two patients(48.5%) were diagnosed with arthritis, whose initial time of immunoglobulin replacement ((98±51) vs. (58±39) months,t=3.420, P=0.001) and time consumed in diagnosis ((74±49) vs. (44±40) months, t=2.600, P=0.010) were also significantly later and longer than those in children without arthritis (34 cases). Conclusions: After immunoglobulin replacement therapy, the clinical symptoms such as fever, sinusitis, diarrhea, and otitis media can be improved more or less. However, long-term wet cough, chronic lung disease, and arthritis are still prominent clinical problems, which could be controlled by standard immunoglobulin replacement therapy in some patients.

[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review].

Objective: To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. Methods: The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children's Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Results: A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10(-3)/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10(-3)/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency. Conclusions: BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.

[Endoscopic transpterygoid intervention for lesions of lateral recess of sphenoid sinus in 4 cases(with literature review) ].

Objective: To investigate the anatomy and application of endoscopic transpterygoid intervention in lesions of lateral recess of sphenoid sinus(LRSS). Method: Four hospitalized patients with lesions of LRSS were studied. The clinical presentations included spontaneous cerebrospinal fuild(CSF) leakage in 2 cases, meningoencephaolece complicated CSF leakage in 1 case and chronic invasive fungal sphenoid sinusitis invading the base of the middle fossa in 1 case. Endoscopic transpterygoid intervention and repairment of skull base defects were performed under general anesthesia. Result: he operations were successfu1 in all patients. One patient suffered from postoperative palatal hypesthesia and all the symptoms mentioned above relieved gradually 6 months after operation. No recurrence was found during the follow-up ranging from 6 to 45 months(mean follow-up period,22.75 months).Conclusion: Endoscopic transpterygoid intervention in lesions of LRSS is a minimally invasive and safe surgical approach.

[Analysis of clinical effect of unilateral vidian neurectomy following endoscopic trans-sphenoethmoidal recess approach for allergic rhinitis treatment].

Objective: To explore the clinical efficacy of unilateral vidian neurectomy following endoscopic trans-sphenoethmoidal recess approach in treating allergic rhinitis.Method: The clinical data of 80 patients with moderate-severe allergic rhinitis who underwent unilateral vidian neurectomy following endoscopic trans-sphenoethmoidal recess approach were reviewed retrospectively. Visual analogue scale(VAS) was used to assess total symptom scores and nasal symptoms including nasal itching, nasal sneezing, rhinorrhea and nasal congestion. The paired T test was used to compare the scores between surgical side and control side. Twenty-four patients with 3 years of follow-up were assessed by analysis of variance with comparison of means between multiple groups. Further comparison between any two means was performed by LSD-t test. Result: A total of 80 patients were followed up for one year, with 51 patients for two years and 24 patients for three years. Among 24 patients, total symptom scores and nasal symptoms (nasal itching, nasal sneezing, rhinorrhea and nasal congestion) at pre-operation, 1 year,2 year and 3 year after operation were compared between surgical side and control side. There was no significant difference by the paired T test(P>0.05),but there was statically significant by analysis of variance(P<0.05) .The analysis of LSD-t test showed significant differences between pre-operative time point and each of the three time points after operation (P<0.05). Conclusion:The unilateral vidian neurectomy following endoscopic trans-sphenoethmoidal recess approach is an safe and effective technique in the management of moderate severe allergic rhinitis,and unilateral surgery could relieve bilateral nasal symptoms.

[A preliminary study of a modified transnasal endoscopic three step vidian neurectomy].

Objective:The aim of this study is to explore an improved trans-nasal endoscopic surgical approach for vidian neurectomy. Method:Ninety-one patients with nasal hyperreactive disease were collected, including 49 cases of allergic rhinitis and 42 cases of non allergic rhinitis. All sufferers enrolled in the study have treated with medicine, but the symptoms were not effectively controlled. Preoperative CT localization of the vidian canal was performed in each candidate. During the surgery a"Three-step" surgical approach were followed under endoscopic guidance in accordance with the operation procedures. Briefly, such a three-step procedure consists of the following, that is, a transnasal endoscopic sphenoidectomy through sphenoethmoidal recess as step one, with enlargement of the sinus ostium along the junction of the anterior wall and the floor of the sinus until the exposure of the vidian nerve canal toward the lateral wall of the sinus as step two. The last step was further exposure of the vidian nerve going through the canal and electric cautery preventing bleeding from the neurovascular bundle in the canal. Result:All patients were completed successfully with 100% preoperative CT location of the vidian canal in the CT scan and 100% intraoperative accurate exposure of the canal and therefore the cut of the vidian nerve. Conclusion:"Three-step" endoscopic resection of the vidian neurectomy is easy to master and repetitive with less injury.

[Effects of endogenous glucocorticoid deprivation on immune response of allergic rhinitis in mice].

Objective: To study the effect of dysfunction of the hypothalamic-pituitary-adrenal (HPA) axis on the pathogenesis of allergic rhinitis (AR) by the mouse model of decreased endogenous glucocorticoid (GC) after adrenalectomy, and further explore the mechanism of neural-endocrine regulation. Methods: According to literatures, adrenalectomized (ADX) mice and AR model were established. Eighty mice were randomly divided into four groups (n=20 per group) including control group, AR group of normal mice (AR group), AR group of bilateral ADX (bilateral ADX/AR group) and AR group of unilateral ADX (unilateral ADX/AR group). In order to assess the model of ADX, adrenal gland tissue was assayed by HE staining and the plasma adrenocorticotropic hormone (ACTH) and cortisol (CORT) concentrations were measured by enzyme-linked immunosorbent assay (ELISA). The behavioral observation, OVA-sIgE assessments and count of eosinophils/mast cells by the HE/Toluidine Blue staining of nasal septum mucosa tissue were performed to evaluate the AR model. The expression of peripheral blood CD4(+) IL4(+) T cells (Th2 cells) and CD4(+) IFN-γ(+) T cells (Th1 cells), splenocytes of CD4(+) CD25(+) Treg cells (Treg cells) were measured by flow cytometry to study the influence of endogenous GC on immunological indexes in different groups of mice. SPSS 16.0 software was used to analyze the data. Results: The concentrations of OVA-sIgE in control group, AR group, bilateral ADX/AR group and unilateral ADX/AR group mice were (28.86±3.62) ng/ml, (76.27±16.47) ng/ml, (48.37±8.89) ng/ml, (49.86±7.19) ng/ml, respectively. There was statistically significant difference between control group and AR group (t=7.09, P<0.05), AR group and bilateral ADX/AR group (t=4.81, P<0.05), AR group and unilateral ADX/AR group (t=5.21, P<0.05). The level of Th2 cells in different four groups were (0.71±0.24)%, (7.03±1.95)%, (2.44±2.06)%, (3.20±1.21)%, respectively. There was statistically significant difference between control group and AR group (t=-2.93, P<0.05), AR group and bilateral ADX/AR group (t=-4.67, P<0.05), AR group and unilateral ADX/AR group (t=-3.61, P<0.05). The expression of Th2 in bilateral ADX/AR group is lower than that in unilateral ADX/AR group without significant difference (t=4.39, P>0.05). Meanwhile, the level of Th1 cells in different four groups was (0.58±0.76)%, (0.57±0.59)%, (0.72±0.34)%, (1.03±0.32)%, respectively, with no significant difference among these groups. The proportion of Treg cells was (11.10±2.18)%, (4.10±1.07)%, (7.15±0.92)%, (4.58±1.05)%, respectively, with significant difference between control and other groups (t value was -7.171, -8.273, -8.360, respectively, all P<0.05). Compared with AR group, Treg cells increased significantly in bilateral ADX/AR group (t=-2.607, P<0.05). In addition, lower expression of eosinophil and mast cell were detected in the local nasal tissue of bilateral ADX/AR group, and mast cell degranulation wasn't be observed. Conclusion: Unilateral or bilateral ADX leads to HPA axis dysfunction and endogenous GC deprivation, possibly regulating the mechanism of AR through Th1/Th2 immune bias and Tregs cell' activity.

[Clinical and immunological analysis of patients with activated phosphoinositide 3-kinase δ syndrome resulting from PIK3CD mutation].

Objective: To explore the clinical and immunological features, gene mutations, treatment and prognosis in patients with activated phosphoinositide 3-kinase δ syndrome (APDS) caused by PIK3CD gene heterozygous germline mutation. Method: The data of clinical, immunological phenotype, treatment, and prognosis of 15 patients with APDS, who visited Children's Hospital of Chongqing Medical University, Peking Union Medical College Hospital, and Shenzhen Children's Hospital from June 2014 to November 2016, were collected and analyzed. Result: Of the 15 patients, 11 were males, remaining 4 patients were females. The median age of disease onset was 1 year, and median age at diagnosis was 4 years and 4 months. All patients had the de novo heterozygous germline mutation in PIK3CD (c. 3061G>A, p. E1021K). The common initial symptoms were respiratory infections, including pneumonia (12 cases) , bronchiectasis (5 cases). Other common clinical manifestations were recurrent and chronic diarrhea (11 cases), Epstein-Barr virus (EBV) and/or cytomegalovirus (CMV) viremia (10 cases), hepatosplenomegaly (13 cases), and lymphadenopathy (10 cases). The main immunological features were increased IgM (11 cases), decreased IgG (6 cases), decreased numbers of CD4+ T cell (7 cases) especially naïve CD4+ T cell (9 cases), reduced numbers of B cells (11 cases) particularly naïve B cells (9 cases), increased numbers of transitional B cells (5 cases) and CD8+ terminally differentiated effector memory T cells (5 cases). After 1-29 months follow up, 13 of the 15 cases remain survived, of whom 5 cases received regular intravenous immunoglobulin (IVIG) therapy, with reduced frequency of infections and improved severity of infections; of whom 3 cases received oral rapamycin therapy at the dosage of 1 mg/ (m2·d) and with a decrease in nonneoplastic lymphoproliferation. Conclusion: E1021K is a hotspot for mutation in the PIK3CD gene in patients with APDS. Regular IVIG can improve their quality of life. Targetel treatment with rapamycin could mitigate hepatosplenomegaly.

[Clinical and immunological analysis of the patient with autoimmunity due to germline STAT3 gain-of-function mutation].

Objective: To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3. Method: A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children's Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed. Result: The patient was a four years old girl. The clinical manifestation consisted of autoimmune pancytopenia, lymphadenopathy and recurrent infections. Multiple exams showed that peripheral blood leukocyte count was (2.2-4.9)×109/L, red blood cell count was (2.09-5.75)×109/L, hemoglobin level was 64-165 g/L, platelet count was (52-138) ×109/L. Percentages of lymphocyte subsets showed that CD3+ T lymphocyte was 0.716 0 (CD4+ T lymphocyte was 0.326 0, CD8+ T lymphocyte was 0.323 0 and CD4- CD8-T TCRαß+ lymphocyte was 0.029 0), CD19+ B lymphocyte was 0.235 0 (transitional B was 0.004 3), NK was 0.032 0. Percentages of CD4+ T lymphocyte release IL-4, IFN-γ, IL-17 and IL-21 were 0.014 9, 0.213, 0.024 0 and 0.021 0, respectively. Lymphocyte proliferation function and TCRVß diversity were normal. The serum immunoglobulin levels were 16.4 g/L (IgG), 1.53 g/L (IgA), 3.99 g/L (IgM) and 3.20 kU/L (IgE). The patient carried a missense variant in the 21st exon of STAT3, c. 1974G>C, p.K658N, which was previously described as a gain-of-function mutation. The patient was treated with methylprednisolone and prednisone intermittently. There were significant improvements of hepatosplenomegaly, lymphadenopathy and pancytopenia. We searched internal database and literature for cases with gain-of-function mutations in STAT3. A total of 19 cases were identified, all were non-Chinese. Among 16 cases who had clinical data, age of onset of 11 patients was less than 5 years. 14 cases had autoimmune hemolytic anemia, autoimmune thrombocytopenia or autoimmune neutropenia. Twelve patients had lymphadenopathy while 11 had infections and 5 had endocrine abnormalities. Conclusion: The patient with Primary immunodeficiency disease (PID) due to gain-of-function mutation in STAT3 gene often has early-onset autoimmune disorders, lymphadenopathy and recurrent infections. Since the routine immunological examination may be normal or slightly abnormal, comprehensive evaluation of immune function should be done. Genetic testing ultimately helps to confirm the diagnosis.

[Experimental study on substance P in the regulation of degranulation of cultured murine mast cells].

Objective: To investigate the effect of interleukin-4 (IL-4) stimulation on the expression of FcεRⅠα and NK-1R on mature mast cells(MC) cultured and differentiated from mouse bone marrow stem cells, and then to study if these MC also respond to substance P (SP) both in FcεRⅠα and NK-1R dependent manners. Methods: Bone marrow cells were aseptically flushed from BALB/c mouse femurs into complete RPMI 1640, followed by culture with stem cell factor (SCF 100 µg/L), IL-3 (15 µg/L) and IL-4 (0, 10, 15, 20 and 25 µg/L, respectively). The culture medium was changed once a week. The morphological changes of culture cells were observed under inverted microscope. After 4 weeks culture, the cells were collected and appraised by toluidine blue staining and flow cytometry. The expressions of surface CD117, FcεRⅠα and NK-1R on these cells were detected by flow cytometry and Western blot. Bone marrow MC were activated with SP (0, 0.01, 0.1, 1.0 and 10 mg/L, respectively) for 30 min. The histamine released into the supernatant and stored in the protoplasm was quantified by enzyme linked immunosorbent assay (ELISA). The percentage of histamine release was calculated as a percent of total histamine content. Results: When different concentrations of IL-4 (0, 10, 15, 20, 25 µg/L)were added into RPMI 1640, the positive rates of CD117 on MC surface were expressed as (94.8±1.3)%, (95.7±2.5)%, (94.1±1.3)%, (96.6±1.0)%, and (96.6±1.1)%, respectively, and there was no significant difference among these groups (F=8.51, P>0.05). The positive rates of FcεRⅠα were expressed as (81.5±2.6)%, (84.2±1.8)%, (91.8±2.0)%, (91.6±1.6)%, and (93.0±2.6)%, respectively, and there was statistically increasing among these groups (F=15.76, P<0.05). Then MC were activated by SP (0, 0.01, 0.1, 1.0, 10 mg/L), histamine from 20 µg/L IL-4 group were released (20.08±1.50)%, (32.76±2.99)%, (42.90±3.36)%、(50.21±1.29)%, (56.10±3.60)%, as similar as from 0 µg/L IL-4 were (19.37±2.02), (19.50±1.50), (21.77±1.91), (32.00±2.50), (33.56±1.25), there was significantly different when compared with each other (all P<0.05). Bone marrow MC were shown to have the highest expression of FcεRⅠα and NK-1R in culture of 20 µg/L IL-4 by the detection of Western blot, meanwhile these MC could be activated to degranulate by a lower concentration of SP (0.01 mg/L), with the release rate of histamine from MC showing a positive correlation with SP concentrations. On the other hand, MC with high expression of FcεRⅠα and little expression of NK-1R cultured with 0 µg/L IL-4, could also be activated by a much higher concentration of SP (1.0 mg/L). Conclusions: Bone marrow mast cells were shown to be successfully differentiated and to express NK-1R and FcεRⅠα upon co-culture with SCF and IL-3 or SCF, IL-3 and IL-4.When IL-4 was added into RPMI 1640, bone marrow MC could highly produce FcεRⅠα and NK-1R, thus building a better model of MC degranulation regulated by SP. And SP-controlled MC degranulation may be mediated through both FcεRⅠα (immunologically) and NK-1R (non-IgE mediated or non-immunologically) pathway.

[X-linked lymphoproliferative syndrome type 1 complicated with secondary hemophagocytic lymphohistiocytosis and ileal perforation: case report and literature review].

OBJECTIVE: To analyze and summarize the clinical characteristics, laboratory tests and treatment of X-linked lymphoproliferative syndrome type 1 (XLP-1). METHOD: A retrospective study was done in 2012 on an XLP-1 patient to collect the data on clinical manifestation, laboratory examination, gene and protein expression, complications and prognosis. Literatures were reviewed in Pubmed with the key word"X-linked lymphoproliferative syndrome". RESULT: The patient with persistent high fever, jaundice, abdominal distension, hepatosplenomegaly and lymphadenectasis, rash and suspicious positive family history; the patient eventually died of hemophagocytic lymphohistiocytosis (HLH), with intestinal perforation, intestinal infection and bleeding after being infected with EB virus. This patient with SH2D1A gene exon 1 large fragment of the coding region of the nucleotide deletion and insertion mutations causing missense mutations (p.Leu25Lys) and nonsense mutations (stop codon TAG was inserted after missense mutation so that the protein encoded by the early termination of the 25 amino acids), which led to SAP protein missing. The expression of SAP in his mother was also partly missing. Retrieval of reports on XLP-1 was conducted through literature search (included totally 157 cases) at home and abroad, positive family history accounted for 60.6%(40/66); lymphoma incidence accounted for 49.7%(72/145); low gamma globulin occurred in 24.8%(39/157) of cases; secondary HLH ratio accounted for 43.3%(68/157); XLP-1 in patients with hemorrhagic enteritis and gastritis was low, accounted for only 2.6%(3/116). CONCLUSION: XLP-1 patients occasionally develop necrotic enteritis complicated with ileal perforation.XLP-1 with large fragment deletion of SH2D1A gene might be associated with serious gastrointestinal manifestations.

Effects of Wiskott-Aldrich Syndrome Protein Deficiency on IL-10-Producing Regulatory B Cells in Humans and Mice.

The Wiskott-Aldrich syndrome protein (WASp) is an important regulator of the actin cytoskeleton and is required for immune cell function. WASp deficiency causes a marked reduction in major mature peripheral B cell subsets, particularly marginal zone (MZ) B cells. We hypothesized that WASp deficiency may also lead to a reduction of regulatory B cells (known as B10 cells) belonging to a novel subset of B cells. And in consideration of the key role of B10 cells play in maintaining peripheral tolerance, we conjectured that a deficit of these cells could contribute to the autoimmunity in patients with Wiskott-Aldrich syndrome (WAS). The effects of WASp deficiency on B10 cells have been reported by only one group, which used an antigen-induced arthritis model. To add more information, we measured the percentage of B10 cells, regulatory T cells (Tregs) and Th1 cells in WASp knockout (WASp KO) mice. We also measured the percentage of B10 cells in patients with WAS by flow cytometry. Importantly, we used the non-induced autoimmune WASp KO mouse model to investigate the association between B10 cell frequency and the Treg/Th1 balance. We found that the percentage of B10 cells was reduced in both mice (steady state and inflammatory state) and in humans and that the lower B10 population correlated with an imbalance in the Treg/Th1 ratio in old WASp KO mice with autoimmune colitis. These findings suggest that WASp plays a crucial role in B10 cell development and that WASp-deficient B10 cells may contribute to autoimmunity in WAS.