BackgroundLeukocyte adhesion deficiency (LAD) is a primary immunodeficiency disease (PID) caused by a defect in neutrophil adhesion, characterized by skin ulcers, poor wound healing and recurrent bacterial infection. Intravenous immunoglobulin (IVIG) is used to treat patients with PID, but in LAD is not rutinely used. Treatment consists in prompt antibiotic, G-CSF for chronic ulcers and the only definite therapy is bone marrow transplantation (BMT). We present the case of a child with LAD, who was treated with IVIG with a good response before BMT.MethodsWe present a case report of a 2 year-old male, second child of consanguineous parents (cousins 1st grade). His sister had omphalitis and umbilical abscess and died at 6 months with candidiasis and perianal infection. There were 6 episodes of infectious diseases from birth to 6 months: At 11 days of life presented with omphalitis. At 2 months, upper respiratory tract infection with poor response to antibiotics. At 4 months he presented with suppurative otitis media, and was transferred to our hospital with suspected immunodeficiency, with neutrophilia (up to 95900). He was treated with IV antibiotics, and after resolution with prophylactic antibiotics. At 6 months had gastroenteritis and 1 week later septic shock. Treatment with intravenous immunoglobulins (IVIG) was started.ResultsAfter IVIG was initiated there were only 6 episodes of infectious diseases from 6 months to 2 years, including in the cord blood stem cell transplantation (CBSCT) period: at 9 months, gastroenteritis; at 15 months balanosposthitis (ecthyma gangrenosum), at 17 months had cellulitis in the hand and buttocks and oral candidiasis. CBSCT was performed on February 2011, at 1 year 11 months, but didn't engraft. He was discharged with prophylactic antibiotics and cyclosporine. At 2 years he had catheter associated sepsis. Currently the patient is receiving monthly IVIG, fluconazol, TMP SMX, Acyclovir and in protocol for BMT and has remained stable.ConclusionsIVIG is not routinely used in LAD. In our case, monthly IVIG resulted in improvement with less infectious episodes. We suggest the use of IVIG as an adjuvant tool for the treatment of patients with LAD before BMT.
Background: Degos-like disease has been associated with several rheumatologic conditions such as systemic lupus erythematosus, antiphospholipid syndrome, systemic sclerosis and rheumatoid arthritis. Case presentation: Seven-year-old girl with low weight, height and body mass index who presented with swollen eyelids with ptosis, suggestive cutaneous features of juvenile dermatomyositis along with the presence of scarce papules with hematic crusts and white atrophic scars with an erythematous rim (Degos-like), dysphagia, flaccid paralysis and proximal and distal weakness. With the use of several immunosuppressants the disease was controlled; and after 7 years of follow-up the patient’s condition remains stable.Conclusion: Herein we describe a unique case of juvenile dermatomyositis associated with Degos-like disease responsive to treatment and a long follow-up.
BackgroundTo identify the pattern of transmission in male CGD patients and the CGD X-linked carriers among their female relatives.MethodsThrough the 123 Dihydrorodamine assay in blood samples of the female relatives of CGD patients we identified a positive bimodal pattern in each woman. A positive bimodal pattern reveled 2 points, first, that the pattern of transmission in the patients was X-linked, second, that the woman was a carrier.ResultsWe analyzed 59 female relatives of 18 male CGD patients. Among 14 CGD males we found 28 women whit a positive bimodal pattern; in 4 male CGD patients we did not find any relative with a positive bimodal pattern.Conclusions123 DHR assay is an accessible and quickly technique to determinate the pattern of transmission and the carriers in X-CGD. However a negative finding of a bimodal pattern in the female relatives suggests an autosomal recessive pattern but it does not rule out an X-CDD because of a novo mutation or non-random (skewed) X-chromosome inactivation. Definitive diagnosis is based on candidate gene sequencing.
BackgroundGriscelli syndrome is a rare autosomal recessive condition characterized by pigmentary abnormalities, particularly greying of the hair. Type 1 is associated with severe neurological impairment and type 2 with immunological problems, whereas type 3 is limited to the pigmentary phenotype.MethodsWe describe the presentation of a 3 year old female silvery-gray hair patient with neurological deterioration.ResultsA 3 year-old Mexican female was refered to our hospital. Relevant history: Consanguinity parents, 2 males from father side died in infancy, both presented grayish hair. Normal development milestones until 2 and a half years of age. (Including bladder and bowel control). Immunizations up to date. No prior history of infections. At 11 months of age cutaneous lesions leaving atrophic scars, with a chronic evolution. At 2 years 6 months old she started presenting demential picture, with impaired language, abnormal gait, with a significant decline of previous level of functioning. Hospitalized in another state hospital with diagnosis of Infection of central nervous system. Due to worsening evolution despite treatment she was refered to our institution. She was admitted to Intensive Care Unit, requiring mechanical support due to a pneumonia. On physical examination the most striking feature was an unusual silvery-gray pigmentation of her hair, eyebrows and eyelashes, crackles in both lungs, no adenomegalies, no hepatosplenomegaly. Analysis of hair shafts was carried out at the time of hospital admittance and showed abnormal clumping of the pigment granules, as seen in Griscelli syndrome. During her clinic evolution the neurological deterioration was progressive. Serial exams for haemophagocytic syndrome (accelerated phase) were negative (ferritin, transaminases, CBC, triglycerides etc). Her condition deteriorated during the following days. Treated at the Intensive Care Unit with multiple broad spectrum antibiotics, she developed respiratory insufficiency, refractory shock, multiorgan dysfunction, and died on her 23rd hospital day. A cerebral biopsy reported necrosis and chronic inflammatory infiltrate.ConclusionsThe results of molecular analysis is in process: griscelli type 2 (rab27a mutation) or elejalde syndrome (myo5a mutations) are the 2 considerations.
BackgroundAutoimmune manifestations in primary immunodeficiencies (PIDs) are not uncommon, and they are more frequently observed in defects affecting lymphocytes and their regulatory mechanisms. There is a wide variability in prevalence, ranging from immune defects in which autoimmunity defines the syndrome, others with a very high prevalence of autoimmune manifestations, defects with a moderate prevalence, and those in which autoimmunity is rather an exception than the rule.ObjectiveWe aimed to determine the prevalence of autoimmunity in children with PIDs from our hospital, to delineate their clinical features.MethodsAn internal register was consulted to identify autoimmune diseases in our patients with PIDs. Their clinical files were then reviewed for diagnostic workup, age of presentation and outcome.ResultsWe identified a prevalence of 18.8% (47 out of 250 patients, 68.1% male patient), within a period of 40 years (1970–2010), with autoimmune manifestations in the context of PID. Of which most are still alive: 35 (74.5%); lost to follow-up: 3 (6.4%), Dead: 9. Known or probable consanguinity was reported in 25.4%, 36.2% had a positive family history. 12.8% also had an allergic disease; none had cancer. The most frequent AI type was Systemic Autoimmune disease (11 case, 23%), followed by Organ-specific autoimmunity (15 cases, 32%), cytopenias (8 cases, 17%), and just antibodies (6 cases, 13%). Other than Autoimmune lymphoproliferative syndrome (ALPS), in which autoimmunity is a case-defining feature, the group of well defined (Hyper-IgE Syndrome (HIES), and Wiskott-Aldrich Syndrome (WAS)) were the PIDs with more cases of autoimmune disease, followed by phagocytosis deficiencies and antibody deficiency.DiscussionThe overall prevalence of autoimmune disease is relatively high PID syndromes such as ALPS, moderate levels in HIES, WAS and defects of phagocytosis and antibody interestingly. Interestingly, most of our patients with HIES have an autosomal-recessive pattern of inheritance and no identified mutational diagnosis; nearly all of our patients with CGD are receiving chronic subcutaneous therapy with human recombinant interferon gamma. Regular follow-up visits are justified for surveillance for complications and frequent treatment adjustments, given the delicate balance between immunosuppression and infection prophylaxis that is required in the care of these patients.
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