Assuntos
Agamaglobulinemia/diagnóstico , Linfócitos B/patologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Infecções por HIV/diagnóstico , HIV-1/imunologia , Imunidade Materno-Adquirida , Cadeias kappa de Imunoglobulina/genética , Rituximab/uso terapêutico , Adulto , Agamaglobulinemia/etiologia , Agamaglobulinemia/genética , Antígenos CD20/metabolismo , Erros de Diagnóstico/prevenção & controle , Feminino , Transfusão Feto-Materna , Infecções por HIV/tratamento farmacológico , Infecções por HIV/genética , Humanos , Terapia de Imunossupressão/efeitos adversos , Lactente , Recém-Nascido , Depleção Linfocítica , Linfopenia , Masculino , Exposição Materna/efeitos adversos , Triagem Neonatal/métodos , Gravidez , Recombinação Genética , Rituximab/efeitos adversosRESUMO
BACKGROUND: Currently, management of antibody deficient patients differs significantly among caregivers. Evidence and consensus based (S3) guidelines for the treatment of primary antibody deficiencies were developed to improve the management of these patients. METHODS: Based on a thorough analysis of current evidence (systematic literature search in PubMed; deadline November 2011) 14 recommendations were finalized during a consensus meeting in Frankfurt in November 2011 using structured consensus methods (nominal group technique). Experts were nominated by their scientific societies/patient initiatives (Tab. 1). RESULTS: The guidelines focus on indication, practical issues and monitoring of immunoglobulin replacement therapy as well as on different routes of administration. Furthermore recommendations regarding supportive measures such as antiinfective therapy, vaccinations and physiotherapy are given. Combining literature evidence and experience of caregivers within this evidence and consensus based guidelines offers the chance to improve the quality of care for anti-body deficient patients.
Assuntos
Comportamento Cooperativo , Síndromes de Imunodeficiência/terapia , Comunicação Interdisciplinar , Adulto , Anti-Infecciosos/uso terapêutico , Pré-Escolar , Terapia Combinada , Medicina Baseada em Evidências , Humanos , Imunização Passiva , Modalidades de Fisioterapia , Melhoria de Qualidade , Ensaios Clínicos Controlados Aleatórios como Assunto , VacinaçãoRESUMO
The differentiation between mast cell mediator-mediated and bradykinin-mediated forms of angioedema can be difficult. Bradykinin-mediated hereditary angioedema is a rare autosomal dominant hereditary disease which is characterized by recurrent edema attacks of varying magnitude. The edema occurs in the skin and mucous membranes and can be temporarily disfiguring, very painful and life-threatening by attacks in the laryngeal region. Because of the multitude of differential diagnoses, a final diagnosis is only achieved after an average duration of more than 10 years. The anamnestic and laboratory diagnostic algorithm presented here is designed to assist a simpler differentiation of the various forms of angioedema and to reach the correct diagnosis more quickly.
Assuntos
Algoritmos , Angioedemas Hereditários/classificação , Angioedemas Hereditários/diagnóstico , Dermatologia/normas , Guias de Prática Clínica como Assunto , Diagnóstico Diferencial , HumanosRESUMO
Hereditary angioedema due to C1 inhibitor (C1 esterase inhibitor) deficiency (types I and II HAE-C1-INH) is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema. Diagnosis as early as possible is important to avoid ineffective therapies and to properly treat swelling attacks. At a consensus meeting in June 2011, pediatricians and dermatologists from Germany, Austria, and Switzerland reviewed the currently available literature, including published international consensus recommendations for HAE therapy across all age groups. Published recommendations cannot be unconditionally adopted for pediatric patients in German-speaking countries given the current approval status of HAE drugs. This article provides an overview and discusses drugs available for HAE therapy, their approval status, and study results obtained in adult and pediatric patients. Recommendations for developing appropriate treatment strategies in the management of HAE in pediatric patients in German-speaking countries are provided.Conclusion Currently, plasma-derived C1 inhibitor concentrate is considered the best available option for the treatment of acute HAE-C1-INH attacks in pediatric patients in German-speaking countries, as well as for short-term and long-term prophylaxis.
Assuntos
Proteína Inibidora do Complemento C1/uso terapêutico , Inativadores do Complemento/uso terapêutico , Angioedema Hereditário Tipos I e II/tratamento farmacológico , Adolescente , Adulto , Androgênios/uso terapêutico , Anti-Inflamatórios não Esteroides/uso terapêutico , Antifibrinolíticos/uso terapêutico , Áustria , Bradicinina/análogos & derivados , Bradicinina/uso terapêutico , Criança , Proteínas Inativadoras do Complemento 1/uso terapêutico , Progressão da Doença , Alemanha , Humanos , Peptídeos/uso terapêutico , Proteínas Recombinantes/uso terapêutico , SuíçaRESUMO
A prospective, open-label, multicenter, single-arm, Phase III study evaluated the efficacy and safety of Hizentra(®), a 20% human IgG for subcutaneous administration, in 51 primary immunodeficiency patients over 40 weeks. Patients previously on intravenous or subcutaneous IgG were switched to weekly subcutaneous infusions of Hizentra(®) at doses equivalent to their previous treatment. IgG levels achieved with Hizentra(®) were similar to pre-study levels with subcutaneous, and higher by 17.7% than pre-study levels with intravenous IgG. No serious bacterial infections were reported in the efficacy period. The rate of all infections was 5.18/year/patient, the rates of days missed from work/school, and days spent in hospital were 8.00/year/patient and 3.48/year/patient, respectively. Local reactions (rate 0.060/infusion) were mostly mild (87.3%). No serious, Hizentra(®)-related adverse events were reported. Individual median infusion durations ranged between 1.14 and 1.27 h. Hizentra(®) maintained or improved serum IgG levels without dose increases and effectively protected patients against infections.
Assuntos
Imunoglobulina G/administração & dosagem , Síndromes de Imunodeficiência/terapia , Adolescente , Adulto , Agamaglobulinemia/sangue , Agamaglobulinemia/imunologia , Agamaglobulinemia/terapia , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/sangue , Imunodeficiência de Variável Comum/imunologia , Imunodeficiência de Variável Comum/terapia , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/sangue , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Humanos , Imunoglobulina G/efeitos adversos , Imunoglobulina G/sangue , Imunoglobulinas Intravenosas/administração & dosagem , Imunoglobulinas Intravenosas/efeitos adversos , Imunoglobulinas Intravenosas/sangue , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/imunologia , Infusões Intravenosas , Infusões Subcutâneas , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento , Adulto JovemRESUMO
Adenosin deaminase (ADA) deficiency is the cause for Severe Combined Immunodeficiency (SCID) in about 15% of patients with SCID, often presenting as T (-)B (-)NK (-)SCID. Treatment options for ADA-SCID are enzyme replacement, bone marrow transplantation or gene therapy. We here describe the first patient with ADA-SCID and fatal hepatic failure despite bone marrow transplantation from a 10/10 HLA identical related donor. As patients with ADA-SCID may be at yet underestimated increased risk for rapid hepatic failure we speculate whether hepatitis in ADA-SCID should lead to the immediate treatment with enzyme replacement by pegylated ADA.
Assuntos
Hiperbilirrubinemia Neonatal/diagnóstico , Falência Hepática/diagnóstico , Adenosina Desaminase/deficiência , Adenosina Desaminase/genética , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Agamaglobulinemia/terapia , Substituição de Aminoácidos/genética , Arginina/genética , Transplante de Medula Óssea , Consanguinidade , Éxons/genética , Evolução Fatal , Feminino , Síndrome Hepatorrenal/diagnóstico , Síndrome Hepatorrenal/genética , Histidina/genética , Humanos , Hiperbilirrubinemia Neonatal/genética , Hiperbilirrubinemia Neonatal/imunologia , Lactente , Recém-Nascido , Contagem de Leucócitos , Falência Hepática/genética , Falência Hepática/imunologia , Testes de Função Hepática , Ativação Linfocitária/genética , Ativação Linfocitária/imunologia , Mutação de Sentido Incorreto , Neutrófilos/imunologia , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/terapiaRESUMO
BACKGROUND: Usually IL-7 receptor deficiency presents as (T-B+NK+) (Severe) Combined Immunodeficiency (SCID) within the first six months of life. All published IL-7R-deficient patients so far have been diagnosed and received stem cell transplantation within the first year of life. PATIENT AND METHODS: We present a female patient born to non-consanguineous German parents with delayed manifestation. She presented with superinfected dermatitis at 6 months of life and developed a first pneumonia at age 9 months. On admission to our department at 22 months the patient presented with severe T cell lymphopenia. PNEUMOCYSTIS JIROVECI pneumonia was diagnosed from broncho-alveolar lavage fluid. RESULTS: Sequencing of IL7RA in the patient revealed compound heterozygous mutations. FACS analysis showed no expression of IL-7 receptor alpha-chain on the patient's lympho- and monocytes. The patient successfully received haematopoietic stem cell transplantation from a 9/10 matched unrelated donor at age 24 months. CONCLUSION: [corrected] Despite almost absent T cell functions clinical symptoms occurred late compared to previously published patients. Thus even in patients with moderate clinical symptoms and delayed onset a (T-B+NK+) (Severe) Combined Immunodeficiency ((S)CID)) due to missing IL-7 receptor signalling must be considered.
Assuntos
Linfócitos B/imunologia , Subunidade alfa de Receptor de Interleucina-7/deficiência , Subunidade alfa de Receptor de Interleucina-7/genética , Células Matadoras Naturais/imunologia , Imunodeficiência Combinada Severa/genética , Imunodeficiência Combinada Severa/imunologia , Linfócitos T/imunologia , Análise Mutacional de DNA , Feminino , Seguimentos , Triagem de Portadores Genéticos , Genótipo , Alemanha , Transplante de Células-Tronco Hematopoéticas , Humanos , Lactente , Linfopenia/diagnóstico , Linfopenia/genética , Linfopenia/imunologia , Infecções Oportunistas/diagnóstico , Infecções Oportunistas/genética , Infecções Oportunistas/imunologia , Imunodeficiência Combinada Severa/diagnóstico , Imunodeficiência Combinada Severa/terapiaRESUMO
For intensively pretreated pediatric patients with human immunodeficiency virus type 1 (HIV-1) infection, the treatment options available are limited. We report the case of a highly treatment-experienced 12-year-old boy with multidrug-resistant HIV-1, who was successfully treated with highly active antiretroviral therapy (HAART) including ritonavir-boosted tipranavir oral solution, a novel non-peptic protease inhibitor, and enfuvirtide.
Assuntos
Fármacos Anti-HIV/uso terapêutico , Terapia Antirretroviral de Alta Atividade/métodos , Farmacorresistência Viral Múltipla/efeitos dos fármacos , Infecções por HIV/tratamento farmacológico , HIV-1/efeitos dos fármacos , Criança , Quimioterapia Combinada , Enfuvirtida , Proteína gp41 do Envelope de HIV/uso terapêutico , Infecções por HIV/virologia , Humanos , Masculino , Fragmentos de Peptídeos/uso terapêutico , Piridinas/uso terapêutico , Pironas/uso terapêutico , Indução de Remissão , Ritonavir/uso terapêutico , Sulfonamidas , Resultado do TratamentoAssuntos
Agamaglobulinemia/complicações , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Deficiência de Vitamina B 12/etiologia , Vitamina B 12/uso terapêutico , Adenocarcinoma/diagnóstico , Adenocarcinoma/cirurgia , Adolescente , Adulto , Agamaglobulinemia/genética , Anemia Perniciosa/tratamento farmacológico , Anemia Perniciosa/etiologia , Gastrectomia , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/cirurgia , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Masculino , Recidiva , Deficiência de Vitamina B 12/tratamento farmacológicoRESUMO
Phosphatidylserine molecules are translocated to the outer plasma membrane of lymphocytes undergoing apoptosis and can be detected by the binding of fluorochrome-conjugated annexin V. Using the annexin V assay, we examined CD4 and CD8 T cells from human immunodeficiency virus (HIV)-infected children for apoptosis upon isolation or following in vitro culture. Immediate ex vivo analysis or overnight culture showed significantly higher levels of apoptosis in CD8 cells than in CD4 cells. Following culture with the activating stimulus phytohemagglutinin or anti-CD3 monoclonal antibody, we observed an increase in the percentage of apoptotic CD4 cells, whereas there was no change in the rate of CD8 cell death. These results demonstrate that in HIV-infected children, CD8 apoptosis may occur at a greater rate than CD4 apoptosis in vivo; greater CD4 depletion may be observed due to more efficient mechanisms for peripheral lymphocyte replacement in the CD8 compartment. Furthermore, our data suggest that CD8 lymphocytes may be maximally activated in vivo, a condition which may lead to the exhaustion of CD8-mediated immunity. These findings clarify the differences between the CD4 and CD8 apoptotic responses to HIV.
Assuntos
Apoptose , Linfócitos T CD4-Positivos/patologia , Linfócitos T CD8-Positivos/patologia , Infecções por HIV/imunologia , Anexina A5/análise , Células Cultivadas , Criança , Infecções por HIV/sangue , Infecções por HIV/patologia , Humanos , Ativação Linfocitária/imunologiaRESUMO
BACKGROUND: Against the background of the controversial discussion about an increase in allergic rhinitis in recent years, intraindividual longitudinal data is lacking for IgE-mediated seasonal allergic rhinitis (SAR). Little is known about the development of SAR in terms of prevalence and incidence rates from birth to school age. OBJECTIVE: In a prospective birth cohort, we investigated the development of sensitization and symptoms of SAR. SAR should be defined with high specificity, and associated risk factors should be determined. METHODS: Annual longitudinal data about seasonal allergic symptoms and sensitization was available for 587 children from birth to their seventh birthday. The definition of SAR was based on a combination of exposure-related symptoms and sensitization. RESULTS: Up to 7 years of age, SAR developed in 15% of the children. Incidence and prevalence of symptoms and sensitization were low during early childhood (<2%) and increased steadily with age. Children in which SAR had already developed in the second year all were born in spring or early summer, resulting in at least two seasons of pollen exposure before manifestation of SAR. Risk factors assessed by multiple logistic regression analysis were male sex (odds ratio [OR] = 2.4), atopic mothers (OR = 2.6) and fathers (OR = 3.6) having allergic rhinitis themselves, first-born child (OR = 2.0), early sensitization to food (OR = 3.3), and atopic dermatitis (OR = 2.5), whereas early wheezing was not associated with SAR. CONCLUSION: The development of SAR is characterized by a marked increase in prevalence and incidence after the second year of life. Our longitudinal data further indicate that in combination with the risk of allergic predisposition, at least 2 seasons of pollen allergen exposure are needed before allergic rhinitis becomes clinically manifest.
Assuntos
Rinite Alérgica Sazonal/fisiopatologia , Fatores Etários , Alérgenos/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Impressão Genômica/genética , Impressão Genômica/imunologia , Alemanha/epidemiologia , Humanos , Imunoglobulina E/sangue , Incidência , Lactente , Estudos Longitudinais , Masculino , Pólen/imunologia , Prevalência , Estudos Prospectivos , Sons Respiratórios/imunologia , Sons Respiratórios/fisiopatologia , Rinite Alérgica Sazonal/epidemiologia , Rinite Alérgica Sazonal/genética , Rinite Alérgica Sazonal/imunologia , Fatores de RiscoRESUMO
Atopic dermatitis is a chronic inflammatory skin disease that affects 10-20% of the population. Linkage of atopy, asthma, allergic rhinitis, and total serum IgE levels to several different chromosomal regions have been described extensively, but little is known about the genetic control of atopic dermatitis. We tested for the association and linkage between atopic dermatitis and five chromosomal regions: 5q31-33, 6p21.3, 12q15-24.1, 13q12-31, and 14q11.2/14q32.1-32.3. Marker analysis was performed in two Caucasian populations: (i) 192 unrelated German children with atopic dermatitis and 59 non-atopic children from a German birth cohort study (MAS'90), parental DNA was tested in 77 of 192 children with atopic dermatitis; (ii) 40 Swedish families with at least one family member with atopic dermatitis selected from the International Study of Asthma and Allergy in Children. Evidence for linkage and allelic association for atopic dermatitis was observed for markers on chromosome 13q12-14 and 5q31-33.
Assuntos
Cromossomos Humanos Par 13 , Cromossomos Humanos Par 5 , Dermatite Atópica/genética , Marcadores Genéticos/genética , Criança , Pré-Escolar , Alemanha , Humanos , SuéciaRESUMO
BACKGROUND: Glutamine (Gln) is a major nutrient for rapidly proliferating cells. Unlike glutamine itself, the dipeptide glycyl-glutamine as a source for Gln is stable in aqueous solutions ex vivo. In order to evaluate the possible therapeutic role of glycyl-glutamine on lymphocyte proliferation we investigated its influence on lymphocytes of AIDS patients and healthy controls under stimulation with different mitogens. MATERIAL AND METHODS: Lymphocytes were collected from 11 adult patients suffering from AIDS according to the CDC definition and from 7 adult healthy donors. Glutamine (Gln) and glycyl-glutamine (GlyGln), respectively, were added to cell cultures at concentrations between 0 and 1.0 mmol/l. ConA or SAC served as T or B cell mitogens, respectively. Plasma amino acid levels were determined. RESULTS: Proliferation upon ConA-stimulation with GlyGln-supplementation was similar to Gln-supplementation and peaked dose dependently at 1.0 mmol/l. When SAC was used Gln seemed slightly superior to GlyGln with a peak at 0. 4 mmol/l but the results did not reach the level of statistical significance. An identical response pattern was demonstrated in HIV-patients, however at lower absolute proliferation rates. Normal values could not be restored. Overall, the use of either source of glutamine in equimolar concentrations did not result in major differences of proliferation. Glutamine and glycin plasma levels did not differ between HIV patients and controls. CONCLUSION: GlyGln can be used as a substitute for Gln with regard to lymphocyte proliferation. Lymphocytes from AIDS patients show, as controls do, an enhanced proliferation under supplementation either glutamine source. Supplementation of GlyGln might enhance lymphocyte proliferation and thus improve immunity.
Assuntos
Síndrome da Imunodeficiência Adquirida/patologia , Glutamina/farmacologia , Linfócitos/efeitos dos fármacos , Linfócitos/patologia , Adulto , Divisão Celular/efeitos dos fármacos , Relação Dose-Resposta a Droga , Humanos , Ativação Linfocitária/efeitos dos fármacosRESUMO
Two children with symptomatic HIV-infection suffered from extended mollusca contagiosa. Intensified antiretroviral therapy including a protease inhibitor, resulted in a decrease of HIV RNA plasma concentration and a dramatic increase of CD4 T cells. Mollusca contagiosa nearly completely disappeared. These cases demonstrated that newly generated CD4 T cells during sufficient antiretroviral treatment have functional abilities. Therefore, sufficient antiretroviral treatment should be offered to HIV infected children with extended mollusca contagiosa before surgical intervention is considered.
Assuntos
Infecções Oportunistas Relacionadas com a AIDS/tratamento farmacológico , Fármacos Anti-HIV/uso terapêutico , Infecções por HIV/tratamento farmacológico , Molusco Contagioso/tratamento farmacológico , Adolescente , Fármacos Anti-HIV/administração & dosagem , Linfócitos T CD4-Positivos , Criança , Didanosina/administração & dosagem , Didanosina/uso terapêutico , Inibidores da Protease de HIV/administração & dosagem , Inibidores da Protease de HIV/uso terapêutico , Humanos , Masculino , Ritonavir/administração & dosagem , Ritonavir/uso terapêutico , Fatores de Tempo , Zidovudina/administração & dosagem , Zidovudina/uso terapêuticoAssuntos
Síndromes de Imunodeficiência/imunologia , Infecções Oportunistas/imunologia , Formação de Anticorpos/imunologia , Especificidade de Anticorpos/imunologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Síndromes de Imunodeficiência/diagnóstico , Lactente , Recém-Nascido , Infecções Oportunistas/diagnóstico , Linfócitos T/imunologiaRESUMO
There is a disease stage-dependent loss of CD28 expression on T cells in HIV-infected children. In this study, T cell recovery, in particular CD28 expression on T cells, was analyzed after initiation of highly active antiretroviral therapy in a group of eight mostly treatment-naive HIV-infected children. Plasma HIV-RNA levels were recorded, and numbers of CD4, CD8, CD4+CD28+, and CD8+CD28+ cells were determined by two-color flow cytometry. Values after 12 mo of therapy were compared with age-matched, seronegative control subjects. CD4 recovery to subnormal values was observed in all children. CD8+CD28+ cells recovered and were within the normal range after 12 mo of therapy (patients, 703 +/- 250 cells/microL; controls, 789 +/- 269 cells/microL), whereas CD8+CD28- cells (546 +/- 269 cells/microL) remained significantly expanded compared with age-matched controls (140 +/- 35 cells/microL). Expansions of CD8+CD28- cells persisted even in cases with long-term suppression of viral replication. Highly active antiretroviral therapy in HIV-infected children induces substantial but incomplete T cell recovery.
Assuntos
Fármacos Anti-HIV/uso terapêutico , Antígenos CD28/análise , Antígenos CD8/análise , Infecções por HIV/imunologia , Adolescente , Fármacos Anti-HIV/administração & dosagem , Contagem de Linfócito CD4 , Criança , Pré-Escolar , Citometria de Fluxo , Infecções por HIV/tratamento farmacológico , Humanos , Lactente , Carga ViralRESUMO
In this report, we have analyzed the human T cell repertoire derived in vivo from a single T cell precursor. A unique case of X-linked severe combined immunodeficiency in which a reverse mutation occurred in an early T cell precursor was analyzed to this end. It was determined that at least 1,000 T cell clones with unique T cell receptor-beta sequences were generated from this precursor. This diversity seems to be stable over time and provides protection from infections in vivo. A similar estimation was obtained in an in vitro murine model of T cell generation from a single cell precursor. Overall, our results document the large diversity potential of T cell precursors and provide a rationale for gene therapy of the block of T cell development.
Assuntos
Regiões Determinantes de Complementaridade , Imunodeficiência Combinada Severa/genética , Células-Tronco/imunologia , Linfócitos T/imunologia , Cromossomo X/genética , Pré-Escolar , Células Clonais , Citometria de Fluxo , Rearranjo Gênico/genética , Terapia Genética , Humanos , Região Variável de Imunoglobulina/genética , Região Variável de Imunoglobulina/imunologia , Receptores de Antígenos de Linfócitos T/genética , Receptores de Antígenos de Linfócitos T/imunologia , Imunodeficiência Combinada Severa/imunologiaAssuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ataxia Telangiectasia/complicações , Doença de Hodgkin/tratamento farmacológico , Ataxia Telangiectasia/genética , Proteínas Mutadas de Ataxia Telangiectasia , Proteínas de Ciclo Celular , Criança , Pré-Escolar , Proteínas de Ligação a DNA , Relação Dose-Resposta a Droga , Evolução Fatal , Feminino , Seguimentos , Doença de Hodgkin/complicações , Doença de Hodgkin/patologia , Humanos , Lactente , Mutação , Proteínas Serina-Treonina Quinases/genética , Proteínas Supressoras de TumorRESUMO
We report a now three year old male patient with ectodermal dysplasia and a polysaccharide specific humoral immunodeficiency. Immunological investigations showed compromised production of IgA, IgM, and IgG2. Isohaemagglutinins still were not detectable at the age of three years. Repeated vaccination with polyvalent pneumococcal polysaccharide vaccine did not result in production of specific antibodies. Two brothers showed clinical signs of ectodermal dysplasia. The elder brother died from pneumococcal sepsis at the age of 3 years. The younger brother suffers from chronic inflammatory gastrointestinal disease with ulcerations in all parts of the gastrointestinal system. Thus, a possible association between polysaccharide specific humoral immunodeficiency and ectodermal dysplasia may be considered.