Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

OBJECTIVES: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases. MATERIALS AND METHODS: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015. RESULTS: The disease distribution of the 20 patients were as follows: 6 patients with severe combined immunodeficiency, 4 patients with hemophagocytic lymphohistiocytosis, 2 patients with chronic granulomatous disease, 2 patients with type 2 Griscelli syndrome, 2 patients with B-cell deficiency plus bone marrow failure, 1 patient with severe congenital neutropenia, 1 patient with X-linked lymphoproliferative disease, 1 patient with T-cell deficiency plus relapsed non-Hodgkin lymphoma, and 1 patient with type 1 leukocyte adhesion deficiency. Of the 20 patients, 11 received related HLA-matched, 6 received haploidentical, 2 received unrelated HLA-matched, and 1 received HLA-mismatched transplant. The median age at transplant was 21 months, and median follow-up was 5 months. Overall survival rate was 65%. Mean engraftment times for neutrophils and platelets were 14.25 ± 3.08 and 24.7 ± 11.4 days. Graft-versus-host disease was observed in 30% of patients. CONCLUSIONS: Patients with primary immunodeficiency disease treated at our center had acceptable transplant outcomes. This study supports the use of hematopoietic stem cell transplant in patients with primary immunodeficiency disease.

Combined immunodeficiencies: twenty years experience from a single center in Turkey.

Combined immunodeficiencies (CIDs) include a group of inherited monogenic disorders. CIDs are characterized by defective cellular and humoral immunities that lead to severe infections. CIDs can be classified according to immunologic phenotypes as T(-)B(-)NK(-) CID, T(-)B(-)NK(+) CID, T(-)B(+)NK(-) CID and T(-)B(+)NK(+) CID. In a 20-year period, from 1994 to 2014, a total of 40 CID patients were diagnosed at the Pediatric Immunology of Erciyes University Medical Faculty in Kayseri, Turkey. The gender ratio (F/M) was 3/5. The median age at the onset of symptoms was 2 months (range, 15 days - 15 years). Of the 14 T(-)B(-)NK(-) CIDs, 6, 2 (siblings), 1, 1 and 4 had a mutation in the ADA, PNP, Artemis, RAG1 genes and unknown genetic diagnosis respectively. Of the 15 T(-)B(-)NK(+) CIDs, 3, 2 (siblings) and 10 had a mutation in the RAG1, XLF/Cernunnos genes and unknown genetic diagnosis respectively. Of the 9 T(-)B(+)NK(-) CIDs, 2 siblings, 1, 1 and 5 had a mutation in the ZAP70, IL2RG, DOCK8 genes and unknown genetic diagnosis respectively. Of the 2 T(-)B(+)NK(+) CIDs, 2 had a mutation in the MAGT1 and ZAP70 genes respectively. Of the 40 CIDs, 26 (65%) were died and 14 (35%) are alive. Eight patients received HSCT (hematopoietic stem cell transplantation) with 62.5% survival rate. As a result, patients presented with severe infections in the first months of life have to be examined for CIDs. Shortening time of diagnosis would increase chance of HSCT as life-saving treatment in the CID patients.

The Frequency of HLA-A, HLA-B, and HLA-DRB1 Alleles in Patients with Acute Lymphoblastic Leukemia in the Turkish Population: A Case-Control Study.

We studied the frequencies of human leukocyte antigen alleles (A, B, and DRB1) in 90 patients with acute lymphoblastic leukemia (ALL) and then compared them with 126 controls in this study. Although the frequencies of the A*03 allele, the DRB1*03 allele, the DRB1*04 allele, the A*02/B*35/DRB1*13 haplotype, and homozygosity of A*02 were higher in patients (p=0.006, p=0.003, p=0.002, p=0.01, and p=0.02, respectively), the frequencies of the A*23, B*13, B*40, and DRB1*13 alleles were lower (p=0.002, p=0.07, p=0.002, and p=0.003, respectively) in patients than controls. The frequencies of the DRB1*04 and DRB1*07 alleles were higher in patients in the high-risk group and standard-risk group, respectively (p=0.009 and p=0.007, respectively). This study indicated that the frequency of the A*03 allele, the DRB1*03 allele, the DRB1*04 allele, the A*02/B*35/DRB1*13 haplotype, and A*02 homozygosity may play a predisposing role in patients with ALL in the Turkish population. The frequency of the DRB1*04 and DRB1*07 alleles may also be associated with high risk and standard risk in patients with ALL, respectively.

THE INFLUENCE OF HLA-DQ2 HETERODIMERS ON THE CLINICAL FEATURES AND LABORATORY OF PATIENTS WITH CELIAC DISEASE.

BACKGROUND AND AIM: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. MATERIAL AND METHODS: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. RESULTS: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p < 0.046). CONCLUSION: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children.

Antecedentes y objetivo: el marcador genético esencial relacionado con la enfermedad celíaca (CD) es la molécula HLA-DQ2 codificada por los genes DQA1*0501 y DQB1*0201. El objetivo de este estudio es evaluar el efecto de estos alelos en las características clínicas, serológicas e histológicas de los niños turcos que tienen la enfermedad celíaca. Material y métodos: nosotros hemos dividido los 36 pacientes celíacos en 4 grupos de acuerdo con su genotipo HLA-DQ2 basado en la presencia o la ausencia de los alelos DQA1*0501 y DQB1*0201. Grupo 1: 4 pacientes que no tenían los alelos HLA-DQ2A1*0501 y DQ2B1*0201; Grupo 2: 12 pacientes que tenían por lo menos uno de estos alelos con un estado heterocigoto; Grupo 3: 12 pacientes que tenián ambos alelos con un estado heterocigoto; Grupo 4: 8 pacientes que tenían ambos alelos con un estado heterocigoto. Nosotros hemos comparado los grupos de acuerdo con las características clínicas, serológicas, histológicas y bioquímicas. Resultados: no había significación estadística entre los grupos por edad, índice de masa corporal, (IMC), peso por altura y aparición de síntomas. Sin embargo, en los grupos 3 y 4 comparados con los grupos 1 y 2 se observaron unas diferencias menores en IMC y anticuerpos antigliadina (AGA), sin una significación estadística. De acuerdo con los antiendomisios (EMA), la puntuación Marsh, las presentaciones clínicas y los valores hematológicos y bioquímicos, no había una significación estadística entre los grupos sin estreñimiento respecto a los valores más altos observados en el grupo 4 sin significación estadística. Se detectó hipertiroidismo en un paciente (25%) del grupo de carga genética más baja (grupo 1) con significación estadística (p < 0,046). El resultado: en este estudio, las pequeñas diferencias que se encontraton entre los grupos no dilucidaron el impacto de los alelos HLA-DQ2 A1*0501 y DQ2B1*0201 en las manifectaciones clínicas, serológicas y de laboratorio de los pacientes celíacos. Se necesitan nuevos estudios para evaluar el efecto de los alelos HLA y otros polimorfismos genéticos en los resultados sobre la enfermedad celíaca en los niños.

The influence of HLA-DQ2 heterodimers on the clinical features and laboratory of patients with celiac disease / La influencia de los heterodímeros HLA-DQ2 en las características clínicas y de laboratorio de los pacientes con enfermedad celíaca

Background and aim: the essential genetic marker related with celiac disease (CD) is the HLA-DQ2 molecule encoded by the DQA1*0501 and DQB1*0201 genes. The aim of this study is to evaluate effect of these alleles on the clinical, serological and histological features of Turkish children with celiac disease. Material and methods: we divided 36 celiac patients to 4 groups according to their HLA-DQ2 genotype based on the presence or absence of DQA1*0501 and DQB1*0201 alleles. Group 1: 4 patients had no HLA-DQ2A1*0501 and DQ2B1*0201 alleles, Group 2: 12 patients had at least one of these alleles with heterozygous status, Group 3: 12 patients had both alleles with heterozygous status, Group 4: 8 patients had both alleles with homozygous status. We compared groups according to the clinical, serological, histological, and biochemical features. Results: there was no statistical significance among the groups for age, body mass index (BMI), weight for height, and onset of symptoms. However, both in groups 3 and 4 compared with groups 1 and 2, minor differences were observed for BMI and anti-gliadin antibody (AGA) without statistical significance. According to the anti-endomysial antibody (EMA), Marsh scores, clinical presentations, hematological and biochemical values, there was no statistical significance among groups without constipation that observed higher rate in the 4th group without statistically significance. Hypothyroidism was detected in one patient (25%) in the lowest genetic load group (Group 1) with statistically significance (p<0.046). Conclusion: in this study, small differences found among groups were not elucidated the impact of HLADQ2 A1*0501 and DQ2B1*0201 alleles on the clinical, serological and laboratory manifestations of celiac patients. Further studies are needed to assess the effect of reported HLA alleles and other genetic polymorphisms on CD outcomes in children (AU)

Antecedentes y objetivo: el marcador genético esencial relacionado con la enfermedad celíaca (CD) es la molé- cula HLA-DQ2 codificada por los genes DQA1*0501 y DQB1*0201. El objetivo de este estudio es evaluar el efecto de estos alelos en las características clínicas, serológicas e histológicas de los niños turcos que tienen la enfermedad celíaca. Material y métodos: nosotros hemos dividido los 36 pacientes celíacos en 4 grupos de acuerdo con su genotipo HLA-DQ2 basado en la presencia o la ausencia de los alelos DQA1*0501 y DQB1*0201. Grupo 1: 4 pacientes que no tenían los alelos HLA-DQ2A1*0501 y DQ2B1*0201; Grupo 2: 12 pacientes que tenían por lo menos uno de estos alelos con un estado heterocigoto; Grupo 3: 12 pacientes que tenián ambos alelos con un estado heterocigoto; Grupo 4: 8 pacientes que tenían ambos alelos con un estado heterocigoto. Nosotros hemos comparado los grupos de acuerdo con las características clínicas, serológicas, histológicas y bioquímicas. Resultados: no había significación estadística entre los grupos por edad, índice de masa corporal, (IMC), peso por altura y aparición de síntomas. Sin embargo, en los grupos 3 y 4 comparados con los grupos 1 y 2 se observaron unas diferencias menores en IMC y anticuerpos antigliadina (AGA), sin una significación estadística. De acuerdo con los antiendomisios (EMA), la puntuación Marsh, las presentaciones clínicas y los valores hematológicos y bioquímicos, no había una significación estadística entre los grupos sin estreñimiento respecto a los valores más altos observados en el grupo 4 sin significación estadística. Se detectó hipertiroidismo en un paciente (25%) del grupo de carga genética más baja (grupo 1) con significación estadística (p<0,046). El resultado: en este estudio, las pequeñas diferencias que se encontraton entre los grupos no dilucidaron el impacto de los alelos HLA-DQ2 A1*0501 y DQ2B1*0201 en las manifectaciones clínicas, serológicas y de laboratorio de los pacientes celíacos. Se necesitan nuevos estudios para evaluar el efecto de los alelos HLA y otros polimorfismos genéticos en los resultados sobre la enfermedad celíaca en los niños (AU)

Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.

Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical presentations and laboratory investigations of PN in three siblings from Turkey. The older siblings presented with typical cutaneous poikiloderma, plantar keratoderma, pachyonychia of toenails, and recurrent upper respiratory infections. As the most affected patient, in addition to classic manifestations, the youngest sibling had recurrent pneumonia, hepatosplenomegaly, dental caries, failure to thrive, and hand malformation. Genetic study revealed a homozygous mutation (c.531delA) in the C16orf57 gene in siblings. With the presented study, we aimed to draw attention to PN which can be a predisposing factor to malignancies.

Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report.

The hyper-immunoglobulin M (HIGM) syndrome is a heterogeneous group of genetic disorders characterized by recurrent infections, decreased serum levels of immunoglobulin G (IgG) and IgA, and normal/increased serum levels of IgM. Herein, we describe three Turkish siblings with HIGM syndrome who had a homozygous missense mutation (c.70C>T, p.Arg24Trp) in the activation-induced cytidine deaminase gene which results in autosomal recessive HIGM syndrome. Two of the siblings, sibling 1 and sibling 3, presented with cervical deep abscess and cervical tuberculosis lymphadenitis, respectively.

Contribution of KIR genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus.

BACKGOUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors.

Contribution of KIR (killer immunoglobulin-like receptor) genes, HLA class I ligands, and KIR/HLA class I ligand combinations on the genetic predisposition to celiac disease and coexisting celiac disease and type 1 diabetes mellitus

BACKGROUND AND AIM: There are some common genetic features between celiac disease (CD) and diabetes mellitus type 1 (DM). However, the genetic risk factors have not been fully clarified for CD and the co-occurrence of CD and DM. KIR (killer immunoglobulin-like receptor) genes regulate the cytolitic activity of NK-cells and T lymphocytes. The aim of this study is to evaluate the contribution of KIR genes, KIR ligands, and combinations of KIR/ KIR ligands on the genetic predisposition to CD and co-occurrence of CD and DM. MATERIAL AND METHODS: Forty six patients with CD (n = 46), 20 patients with CD+DM (n = 20), and 60 healthy controls (n = 60) were included in this study. KIR genes and KIR ligands were investigated with PCR-SSOP and PCR-SSP in all subjects, respectively. RESULTS: This study showed that while the telomeric KIR genes (2DS5 and 3DS1), and combinations of 3DS1+HLA-BBw4-Thrand 3DS1+HLA-BBw4-Iso- (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively) were observed more frequently in patients with CD than in controls, the 2DS5, 3DS1 KIR genes, C1 ligand, and combinations of 3DS1+HLA-BBw4-Thr- and 3DS1+HLA-BBw4-Iso- (p = 0.002, p = 0.004, p = 0.036, p < 0.001, and p = 0.007, respectively) were observed more frequently in patients with CD+DM than in controls. CONCLUSIONS: The results of this study indicated that some KIR genes, KIR ligands, and KIR/KIR ligand interactions may be responsible for a predisposition to CD and the coexistence of CD and DM. For development of coexisting CD and DM, the 2DS5 and 3DS1 genes, C1 ligand, and combinations of 3DS1+HLA-BBw4- Thr- and 3DS1+HLA-BBw4-Iso- were found to be risk factors

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Relationships of Human Leukocyte Antigen-A, -B, -DRB1 Alleles, and Haplotypes in 129 Ethnic Turkish Patients With Acute Myeloblastic Leukemia.

OBJECTIVE: To evaluate the frequencies of HLA class I (A, B) and class II (DRB1) alleles in acute myeloblastic leukemia (AML) and to compare them with the frequencies of those alleles in unrelated, healthy ethnic Turkish control subjects. METHOD: We investigated the relationship of HLA alleles in 129 ethnic Turkish patients with AML and 126 unrelated, healthy, ethnic Turkish controls using the polymerase chain reaction with sequence-specific oligonucleotide probes (PCR-SSOP) method via Luminex technology. RESULTS: Allele frequencies of HLA-A*23, HLA-A*68, HLA-B*13, HLA-B*40, and HLA-DRB1*01 were lower in patients with AML compared with control individuals (P =.04, P =.02, P =.005, P = 02, and P =.02, respectively). In contrast, the HLA-DRB1*15 allele frequency was higher than in the controls (P =.01). The most commonly observed haplotype was A*01/B*08/DRB1*03 (5.4% vs 0.8%; P =.03) in patients with AML. In contrast, the most commonly observed haplotype was A*02/B*35/DRB1*04 (2.3% vs 3.2%) in controls. We could not find any haplotypes negatively associated with AML. Also, the homozygosity of HLA-A*01 and HLA-A*02 alleles were higher in patients with AML compared with controls (P =.046; P =.001, respectively). CONCLUSIONS: The HLA-DRB1*15 allele, the A*01/B*08/DRB1*03 haplotypes, and the homozygosity of HLA-A*01 and HLA-A*02 may play a presumptive predisposing factor in AML. Also, the HLA-A*23, HLA-A*68, HLA-B*13, HLA-B*40, and HLA-DRB1*01 alleles have been found to be negatively associated with AML.

Amino acid levels in children with celiac disease / Niveles de aminoácidos en niños con enfermedad celíaca

Background & aim: plasma amino acid levels may show differences in regard to physiological changes, diet and diseases. The aim of the study is to measure the amino acid levels in children with celiac disease and compare them with the controls. Material and methods: sixty-two children with classic celiac disease and 62 age and sex matched healthy control were enrolled in this study. Plasma amino acid levels of the children were measured by using tandem mass spectrometry. Results: celiac children had significant lower plasma levels of citrülline, glutamine and cystine than control (p0.05). Conclusions: this study indicated that plasma amino acid levels can be variable in the celiac disease. Further studies with a large number size are needed whether plasma amino acids assays help to reflect of the intestinal mucosal damage and for following compatibility of gluten free diet in the celiac patients (AU)

Antecedentes y objetivo: los niveles de aminoácidos en plasma pueden mostrar diferencias en lo que se refiere a los cambios fisiológicos, la dieta y las enfermedades. El objetivo del estudio es medir los niveles de aminoácidos en los niños con enfermedad celíaca y compararlos con los controles. Material y métodos: en este estudio se inscribieron 62 niños con enfermedad celíaca clásica emparejados por edad y sexo con 62 controles sanos. Los niveles de aminoácidos en plasma de los niños se midieron utilizando la espectrometría de masas. Resultados: los niños celíacos tenían niveles significativamente inferiores plasmáticos de citrulina, glutamina y cistina que el grupo control (p0,05). Conclusiones: este estudio mostró que los niveles de aminoácidos en plasma pueden ser variables en la enfermedad celíaca. Se necesitan estudios con un tamaño mayor para conocer si los ensayos de aminoácidos en plasma ayudan a reflejar la lesión de la mucosa intestinal y para el seguimiento de la compatibilidad de la dieta libre de gluten en los pacientes celíacos (AU)

The association of forced expiratory volume in one second and forced expiratory flow at 50% of the vital capacity, peak expiratory flow parameters, and blood eosinophil counts in exercise-induced bronchospasm in children with mild asthma.

BACKGROUND: Exercise-induced bronchoconstriction (EIB), which describes acute airway narrowing that occurs as a result of exercise, is associated with eosinophilic airway inflammation, bronchial hyperresponsiveness. The forced expiratory volume in one second (FEV1) is the most commonly used spirometric test in the diagnosis of EIB in exercise challenge in asthma. Other parameters such as forced expiratory flow at 50% of the vital capacity (FEF50%) and peak expiratory flow (PEF) are used less often in the diagnosis of EIB. OBJECTIVE: The purpose of this study is to evaluate the association of FEV1 and FEF50%, PEF parameters, blood eosinophil counts in EIB in children with mild asthma. METHODS: Sixty-seven children (male: 39, female: 28) with mild asthma were included in this study. Pulmonary functions were assessed before and at 1, 5, 10, 15, and 20 minutes after exercise. The values of spirometric FEV1, FEF50%, PEF, and blood eosinophil counts were evaluated in EIB in children with mild asthma. RESULTS: There was a positive correlation between FEV1 with FEF50% and PEF values (p<0.05; FEF50%, r=0.68; PEF, r=0.65). Also, a positive correlation was found between blood eosinophil counts and the values of spirometric FEV1, FEF50%, and PEF (p<0.05; FEV1, r=0.54; FEF50%, r=0.42; PEF, r=0.26). In addition to these correlations, in the exercise negative group for FEV1, the FEF50% and PEF values decreased more than the cutoff values in 3, and 2 patients, respectively. CONCLUSION: According to the presented study, eosinophil may play a major role in the severity of EIB in mild asthma. FEF50% and PEF values can decrease in response to exercise without changes in FEV1 in mild asthmatic patients.

Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency.

Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It is caused by defects in the signaling pathways associated with T-lymphocyte activation. ZAP70 deficiency is characterized by a marked reduction in peripheral CD8+ T-cells. In this report, we described two patients with ZAP70 deficiency who presented with recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as a common feature. The first patient initially presented with recurrent infections and TBC as in a classic SCID patient. At the age of 4, he was interned with febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. The second patient, an 8-month-old boy, presented with congenital nephrotic syndrome caused by cytomegalovirus (CMV) and he had also SBIs.

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.

An association of hypochondroplasia and immune deficiency.

A 4-year-old boy with hypochondroplasia was admitted to our clinic with complaints of bronchopneumonia. He also had immune deficiency characterized by low CD3, CD4 T-lymphocyte subsets and a low level of serum immunoglobulin A (IgA). The diagnosis of hypochondroplasia was made on clinical, radiological, and laboratory findings by the pediatric endocrinology department. The focus of our study is hypochondroplasia associated with immune deficiency which was unpublished in English medical literature previously.

Contact Urticaria to Raw Potato and Lentil Anaphylaxis: A Case Report.

Potatoes and lentils are highly consumed throughout the world. Adverse reactions to potatoes among children are considered uncommon and usually result from ingestion. Allergy to raw potato has mainly been described in adults, usually in the form of oral-contact dermatitis or contact urticaria, but also may manifest as asthma, rhinoconjunctivitis, wheezing, or even anaphylaxis. Lentils, chickpeas, beans, and peas are the most commonly consumed legumes in Turkey and the Mediterranean region. In the literature, type I hypersensitivity to lentils and legumes is rare. We report a case of a 16-month-old boy with both urticaria induced by raw potato and lentil-induced anaphylaxis.