Refimprove date January 2010 Infobox disease Name Leukocytosis ICD10 ICD10 D 72 8 d 70 ICD9 ICD9 288.3 , ICD9 288.6x Image Caption ICDO OMIM DiseasesDB 33024 MedlinePlus eMedicineSubj eMedicineTopic MeshID D007964 Leukocytosis is a raised white blood cell count the leukocyte count above the normal range in the blood. ref http medical dictionary.thefreedictionary.com leukocytosis TheFreeDictionary Leukocytosis Citing Gale Encyclopedia of Medicine, 2008 and The American Heritage Medical Dictionary ... by several products of inflammation including C3a and G CSF. Although it may indicate illness, leukocytosis ... in image, showing 95 prediction interval s is a common limit for defining leukocytosis. Image Reference ranges for blood tests white blood cells.png thumb center 811px Classification Leukocytosis can be subcategorized by the type of white blood cell that is increased in number. Leukocytosis in which neutrophils are elevated is neutrophilia leukocytosis in which lymphocyte count is elevated is lymphocytosis leukocytosis in which monocyte count is elevated is monocytosis and leukocytosis .... ref Causes class wikitable colspan 5 Causes of leukocytosis Neutrophilic br leukocytosis br neutrophilia ... Kumar12 6 Eosinophilic br leukocytosis br eosinophilia Allergy Allergic disorders Asthma ref name Kumar12 ... 6 Basophilic br leukocytosis br Basophilia rare ref name Kumar12 6 Myeloproliferative disease ... Kumar12 6 Infectious mononucleosis ref name Kumar12 6 Pertussis ref name Kumar12 6 Leukocytosis is very ... is very important for the diagnosis of the disease, as leukocytosis is usually present. The mechanism that causes leukocytosis can be of several forms an increased release of leukocytes from bone ... s, Lithium pharmacology lithium and beta agonists , may cause leukocytosis. ref http www.aafp.org afp 20001101 2053.html Leukocytosis Basics of Clinical Assessment , American Family Physician . November 2000. ref See also Bacterial infection Complete blood count Leukocytosis in head trauma ... more details
Multiple issues orphan December 2010 unreferenced January 2011 Patients who sustained head injury of different degree may have leukocytosis which is predictive of the severity of injury. Several researchers demonstrated that degree of leukocytosis correlates with severity of head trauma, and White blood cell count WBC of 22 correlates with severe head injury, 17 moderate and 12 mild. Glasgow Outcome Scale also correlates with leukocytosis on admission. DEFAULTSORT Leukocytosis In Head Trauma Category Neurotrauma Category Injuries of head ... more details
Pleocytosis is a term used to describe an increased cell count Gk. pleion more , usually referring to an increase in white blood cell WBC count in a bodily fluid, such as cerebrospinal fluid CSF . ref http medical dictionary.thefreedictionary.com pleocytosis TheFreeDictionary pleocytosis Citing The American Heritage Medical Dictionary, 2007 and Saunders Comprehensive Veterinary Dictionary, 2007 ref It is often defined specifically as an increased WBC count in CSF. ref http medical dictionary.thefreedictionary.com pleocytosis TheFreeDictionary pleocytosis Citing Dorland s Medical Dictionary for Health Consumers, 2007 and Mosby s Medical Dictionary, 8th edition, 2009 ref It is indicative of an inflammation inflammatory , infection infectious , or malignant condition. CSF pleocytosis in patients suspected of having Guillain Barre Syndrome acute demyelinating polyradiculoneuropathy should prompt consideration of other diagnoses, such as HIV, CMV, West nile virus infection in appropriate setting , or other infectious or inflammatory conditions. Increased white blood cell count in the blood is rather termed leukocytosis . ref http medical dictionary.thefreedictionary.com leukocytosis TheFreeDictionary Leukocytosis Citing Gale Encyclopedia of Medicine, 2008 and The American Heritage Medical Dictionary, 2007 ref References reflist Category Immunology it Pleocitosi pt Pleocitose pl Pleocytoza ... more details
Unreferenced stub auto yes date December 2009 Drugbox Verifiedfields changed verifiedrevid 413760240 IUPAC name 3 R ,5 R ,8 R ,9 S ,10 S ,13 S ,14 S 3 Hydroxy 10,13 dimethyl 1,2,3,4,5,6,7,8,9,11,12,14,15,16 tetradecahydrocyclopenta a phenanthren 17 one synonyms Aetiocholanolone br 5 Isoandrosterone image Etiocholanolone.png CAS number 53 42 9 ATC prefix none ATC suffix ATC supplemental PubChem 5880 ChEMBL Ref ebicite changed EBI ChEMBL 85799 DrugBank EXPT00443 C 19 H 30 O 2 molecular weight 290.445 g mol bioavailability protein bound metabolism elimination half life excretion pregnancy AU A B1 B2 B3 C D X pregnancy US A B C D X pregnancy category legal AU Unscheduled S2 S4 S8 legal UK GSL P POM CD legal US OTC Rx only legal status routes of administration Etiocholanolone or aetiocholanolone is a metabolite of testosterone . Classified a ketosteroid , it causes fever , immunostimulation and leukocytosis is used to evaluate adrenal cortex function, bone marrow performance and in neoplastic disease for immunostimulation. Category Steroids Pharma stub ... more details
Occult pneumonia is a pneumonia that is not observable directly by the eye, but can only be shown indirectly, especially by radiography . Occult pneumonia can be made visible by chest X ray s. The general symptoms cough for more than 10 days and fever for more than 3 days can indicate the presence of occult pneumonia, just as a temperature of 39 C or higher and a high white blood cell count. ref name murphy C.G. Murphy et al. http www.futuremedicine.com doi full 10.2217 14750708.5.4.399 Clinical predictors of occult pneumonia in the febrile child. Acad. Emerg. Med. 14 3 , 243 249 2007 http www.ncbi.nlm.nih.gov pubmed 17242382 PMID 17242382 . ref Administration of a pneumococcal vaccine decreases the incidence of occult pneumonia, which suggests that Streptococcus pneumoniae is a cause of occult pneumonia. Occult pneumonia, however, can also be the result of atypical pneumonia . ref name bragg Commission on Acute Respiratory Diseases, Fort Bragg, North Carolina http www.ajph.org cgi reprint 34 4 347.pdf Primary Atypical Pneumonia American J. of Public Health, April, 1944 Vol. 34 ref Image RLL pneumoniaM.jpg thumb right 295px Chest x ray, showing pneumonia in right lower lobe. Although pneumococcal vaccination lowers the prevalence of occult pneumonia, it does not make radiographic Medical diagnosis diagnosis superfluous at patients with prolonged fever, cough or leukocytosis . ref name murphy ref M.S. Rutman, R. Bachur, M.B. Harper http www.ncbi.nlm.nih.gov pubmed 19116501?dopt AbstractPlus Radiographic pneumonia in young, highly febrile children with leukocytosis before and after universal conjugate pneumococcal vaccination. Pediatr Emerg Care. 2009 Jan 25 1 1 7 ref Etymology the term is derived from the Latin occultus hidden, secret and pneumonia inflammation of the lungs Greek pneuma wind and Indo European pleumon floating, swimming. ref Ioanna Ramoutsaki, Ioannis Ramoutsakis and Demosthenes Bouros http www.chestjournal.org content 121 5 1385.full?ck nck Pneumonol ... more details
The Alvarado score is a clinical scoring system used in the diagnosis of appendicitis . The score has 6 clinical items and 2 laboratory measurements with a total 10 points. The score Elements from the patient s medical history history , the clinical examination physical examination and from laboratory tests Abdominal pain that migrates to the right iliac fossa Anorexia symptom Anorexia loss of appetite or ketones in the urine Nausea or vomiting Pain on pressure in the right iliac fossa Rebound tenderness Fever of 37.3 C or more Leukocytosis , or more than 10000 white blood cells per microliter in the Blood serum serum Neutrophilia , or an increase in the percentage of neutrophils in the serum white blood cell count. The two most important factors, tenderness in the right lower quadrant and leukocytosis, are assigned two points, and the six other factors are assigned one point each, for a possible total score of ten points. A score of 5 or 6 is compatible with the diagnosis of acute appendicitis. A score of 7 or 8 indicates a probable appendicitis, and a score of 9 or 10 indicates a very probable acute appendicitis. A popular mnemonic used to remember the Alvarado score factors is MANTRELS M igration to the right iliac fossa, A norexia, N ausea Vomiting, T enderness in the right iliac fossa, R ebound pain, E levated temperature fever , L eukocytosis, and S hift of leukocytes to the left factors listed in the same order as presented above . Due to the popularity of this mnemonic, the Alvarado score is sometimes referred to as the MANTRELS score. Complementary value The original Alvarado score describes a possible total of 10 points, but those medical facilities that are unable to perform a differential white blood cell count, are using a Modified Alvarado Score with a total of 9 points which could be not as accurate as the original score. The high diagnostic value of the score has been confirmed in a number of studies across the world. The consensus is that the Alvara ... more details
Infobox disease Name Omenn syndrome ICD10 ICD10 D 81 2 d 80 ILDS D81.210 ICD9 ICDO Image Caption OMIM 603554 OMIM mult MedlinePlus eMedicineSubj ped eMedicineTopic 1640 DiseasesDB 32676 Omenn syndrome is an autosomal recessive severe combined immunodeficiency ref name osone cite journal author Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P title The genetic and biochemical basis of Omenn syndrome journal Immunol Rev. volume 178 issue pages 64 74 year 2000 pmid 11213808 doi 10.1034 j.1600 065X.2000.17818.x ref associated with mutation s in the recombination activating gene s RAG1 and RAG2 , affecting circulating levels of both B cell s and T cell s. Symptoms The symptoms are very similar to graft versus host disease GVHD . This is because the patients have some T cells with limited levels of recombination with the mutant RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery. Therefore, these T cells are auto reactive and cause the GVHD phenotype. Symptoms include Desquamation shedding the outer layers of skin Chronic diarrhea Erythroderma widespread reddening of the skin Hepatosplenomegaly simultaneous enlargement of both the liver and the spleen Leukocytosis elevation of the white blood cell count Lymphadenopathy swelling of one or more lymph nodes Persistent bacterial infection s Elevated serum Immunoglobulin E IgE Genetics Image autorecessive.svg thumb right Omenn syndrome has an autosomal recessive pattern of inheritance. Treatment Omenn syndrome is sometimes treated with bone marrow transplant ation and cord blood stem cells . See also Purine nucleoside phosphorylase deficiency List of cutaneous conditions References Reflist Immune disorders DEFAULTSORT Omenn Syndrome Category Rare diseases Category Syndromes Category Autosomal recessive disorders Category Hepatology Category Noninfectious immunodeficiency related cutaneous conditions es S ndrome de Omenn nl Omenn syndroom pl Zes ... more details
Polymer fume fever or fluoropolymer fever , also informally called Teflon flu , is an inhalation fever caused by the fumes released when Polytetrafluoroethylene PTFE, known under the trade name Teflon is heated to between 300 C and 450 C. When PTFE is heated above 450 C the pyrolysis products are different and inhalation may cause acute lung injury. Symptoms are flu like chills, headaches and fevers with chest tightness and mild cough. Onset occurs about 4 to 8 hours after exposure to the pyrolysis products of PTFE. Medical sign Signs leukocytosis normal chest x ray. The polymer fumes are especially harmful to certain birds whose breathing, optimized for rapidity, allows toxins which are excluded by human lungs. Fumes from Teflon in very high heat are fatal to parrots ref Athan, Mattie Sue, Guide to a Well Behaved Parrot , p. 126, Barron s Educational Service , 1993, ISBN 0 8120 4996 9 ref , as well as some other birds. PTFE Toxicosis, http www.peteducation.com article.cfm?cls 15&cat 18&articleid 2874 . See also Metal fume fever References div class references small references div External links PMID 8272977 Polymer fume fever and other fluorocarbon pyrolysis related syndromes. http www.medicalnewstoday.com medicalnews.php?newsid 4716 Can Teflon make you sick? , Medical News Today Category Pulmonology Category Toxicology Category Organofluorides med stub med toxic stub de Polymerfieber no Polymerfeber ... more details
Infobox Disease Name Eosinopenia Image Caption DiseasesDB ICD10 ICD9 ICD9 288.0 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Eosinopenia is a form of agranulocytosis where the number of eosinophil granulocyte is lower than expected. Leukocytosis with eosinopenia can be a predictor of bacterial infection. ref name pmid12829215 cite journal author Gil H, Magy N, Mauny F, Dupond JL title Value of eosinopenia in inflammatory disorders an old marker revisited language French journal Rev Med Interne volume 24 issue 7 pages 431 5 year 2003 pmid 12829215 doi 10.1016 S0248 8663 03 00138 3 url http linkinghub.elsevier.com retrieve pii S0248866303001383 ref It can be induced by the use of steroid s. ref name titleMonocytopenia Eosinopenia cite web url http www.pathology.vcu.edu education hematology wbc non neoplastic ben ezra sld019.htm title Monocytopenia Eosinopenia accessdate 2008 02 17 format work archiveurl http web.archive.org web 20080116055418 http www.pathology.vcu.edu education hematology wbc non neoplastic ben ezra sld019.htm Bot retrieved archive archivedate 2008 01 16 ref Pathological causes include burns and acute infections. See also Eosinophilia References reflist External links cite journal author Krause JR, Boggs DR title Search for eosinopenia in hospitalized patients with normal blood leukocyte concentration journal Am. J. Hematol. volume 24 issue 1 pages 55 63 year 1987 pmid 3799595 doi 10.1002 ajh.2830240108 Monocyte and granulocyte disease Category Blood disorders medicine stub es Eosinopenia he it Eosinopenia pl Eozynopenia ... more details
italic title Clostridium sordellii is a rare Anaerobic organism anaerobic , gram positive , spore forming rod with peritrichous flagella that is capable of causing pneumonia , endocarditis , arthritis , peritonitis , and myonecrosis . C. sordellii bacteremia and sepsis occur rarely. Most cases of sepsis from C. sordellii occur in patients with underlying conditions. Severe toxic shock syndrome among previously healthy persons has been described in a small number of C. sordellii cases, most often associated with gynecologic infections in women and infection of the umbilical stump in newborns. It has also been described in post partum females, medically induced abortions, injection drug users and trauma cases. ref M.J. Aldape, A.E. Bryant, D.L. Stevens Clostridium sordellii Infection Epidemiology, Clinical Findings, and Current Perspectives on Diagnosis and Treatment Clinical Infectious Diseases 2006 43 1436 46 ref So far, all documented post partum females who contracted C. sordellii septicaemia have died, and all but one woman who contracted the bacterium post abortion have died Fact date June 2009 . The source of the bacteria has not been determined but it has been documented that about 0.5 to 10 of healthy women are lengthened vaginal carriage of C. sordellii. ref Miech RP. Pathophysiology of mifepristone induced septic shock due to Clostridium sordellii. Ann Pharmacother 2005 39 1483 8 ref There are several clinical features which are unique to C. sordellii marked leukocytosis leukaemoid reaction , refractory hypotension, severe tachycardia, haemoconcentration, persistent apyrexia and profound capillary leak syndrome see entry for Clostridium novyi alpha toxin for details of mechanism. In terms of management, there is no hard and fast rule as with most bacterial pathogens but past data reveals C. sordellii susceptibility to beta lactams, clindamycin, tetracycline and chloramphenicol but resistant to aminoglycosides and sulphonamides. ref Nakamura S, Yamakawa K, N ... more details
Technical section Molecular and immunological analysis date November 2009 Persistent polyclonal B cell lymphocytosis PPBL is very rare anomaly of the human immune system characterized by mild leukocytosis , chronic stable absolute polyclonal b cell lymphocytosis , elevated polyclonal IgM and binucleated cells. Ten percent of patients present with splenomegaly and lymphadenopathy . Some patients report a varying degree of fatigue, consistent with a chronic fatigue syndrome, ref Cite journal doi 10.1111 j.1365 2141.1995.tb05579.x last Mitterer first M coauthors Pescosta et al title Chronic active Epstein Barr virus disease in a case of persistent polyclonal B cell lymphocytosis journal Br J Haematol year 1995 month July volume 90 issue 3 pages 526 31 pmid 7646989 ref or postviral fatigue as seen in EBV infections while others remain asymptomic. ref Cite journal doi 10.1016 S0145 2126 00 00069 2 last Tonelli first1 S coauthors Petronilla et al title Persistent polyclonal B lymphocytosis morphological, immunological, cytogenetic and molecular analysis of an Italian case journal Leuk Res. year 2000 month October volume 24 issue 10 pages 877 9 pmid 10996207 ref Although cases of non smoking women or men have been reported, patients are predominantly young smoking women. Molecular and immunological analysis Genetically PPBL has been associated with HLA DR7 which is normally present in 26 in the caucasian population . Chromosome analysis has detected an Isochromosome i 3q with or without premature chromosome condensation. Also a t 14 18 q22 21 bcl 2 IgH rearrangement has been described, as usually seen in follicular lymphoma. Immunologically peripheral B cells showed an expansion of functional IgD positive CD 27 cells. Prognosis In the followup of 111 patients, most remained stable and event free. However, two patients developed IgM gammopathy 2 lung cancer one developed cervical cancer and three developed non Hodgkin Lymphoma. The possibility of developing a clonal prolife ... more details
Sweet, working in Plymouth in 1964, described a disease with four features fever leukocytosis ... factor , can cause SS. Lesions typically occur when the patient has leukocytosis and neutrophilia ... more details
Infobox disease Name Neutrophilia Image Caption DiseasesDB 8995 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj med eMedicineTopic 3209 MeshID Neutrophilia or neutrophil leukocytosis is a condition where a person has a high number of neutrophil granulocyte s in their blood . ref DorlandsDict six 000072202 neutrophilia ref Causes Neutrophils are the primary white blood cell s that respond to a bacteria l infection , so the most common cause of neutrophilia is a bacterial infection, especially pyogenic infection s. ref name Kumar12 6 Table 12 6 in cite book author Mitchell, Richard Sheppard Kumar, Vinay Abbas, Abul K. Fausto, Nelson title Robbins Basic Pathology publisher Saunders location Philadelphia year pages isbn 1 4160 2973 7 oclc doi 8th edition. ref Neutrophils are also increased in any acute inflammation , so will be raised after a myocardial infarction heart attack , ref name Kumar12 6 other infarct or burn s. ref name Kumar12 6 Some drugs, such as prednisone , have the same effect as cortisol , causing marginated neutrophils to enter the blood stream. Anxiety Nervousness will very slightly raise the neutrophil count because of this effect. A neutrophilia might also be the result of a Malignant malignancy . Chronic myelogenous leukemia CML or chronic myeloid leukaemia is a disease where the blood cells proliferate out of control. These cells may be neutrophils. Neutrophilia can also be caused by appendicitis . Left shift A left shift refers to the presence of increased proportions of younger, less well differentiated neutrophils and neutrophil precursor cells in the blood. This generally reflects early or premature release of myeloid cells from the bone marrow , the site where neutrophils are generated. A severe neutrophilia with left shift is referred to as a leukemoid reaction . The leukocyte alkaline phosphatase LAP score, which refers to the amount of alkaline phosphatase per neutrophil, will increase. In a severe infection, toxic granulation changes happ ... more details
File Reactive lymph.JPG thumb 200px Reactive lymphocyte surrounded by red blood cells. Reactive lymphocytes are lymphocytes that become large as a result of antigen stimulation. Typically they can be more than 30 Micrometre m in diameter with varying size and shape. Image with unknown copyright status removed Image Atypical lcyte.jpg thumb Atypical lymphocyte 200px right puic 1 Image Atypical lcyte.jpg log 2008 November 27 The Cell nucleus nucleus of a reactive lymphocyte can be round, elliptic, indented, cleft or folded. The cytoplasm is often abundant and can be basophilic . Vacuoles and or Azurophil azurophilic granules are also sometimes present. Most often the cytoplasm is gray, pale blue or deep blue in colour. The distinctive cell associated with EBV or CMV is known as a Downey cell , after Hal Downey , who contributed to the characterization of it in 1923. ref name pmid8190136 cite journal author last1 Cabot first1 Richard C. last2 Scully first2 Robert E. last3 Mark first3 Eugene J. last4 McNeely first4 William F. last5 McNeely first5 Betty U. last6 Rosenfield first6 Cathy G. last7 Kaplan first7 Mark A. title Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 24 1994. A two year old boy with thrombocytopenia, leukocytosis, and hepatosplenomegaly journal N. Engl. J. Med. volume 330 issue 24 pages 1739 46 year 1994 month June pmid 8190136 doi 10.1056 NEJM199406163302408 url http content.nejm.org cgi pmidlookup?view short&pmid 8190136&promo ONFLNS19 ref ref Downey H, McKinlay CA. Acute Lymphadenosis Compared with Acute Lymphatic Leukemia. Arch Intern Med. 1923 32 82 112 ref It is sometimes erroneously called a Downy cell . ref name urlMedlinePlus Medical Encyclopedia Mononucleosis, photomicrograph of cells cite web url http www.nlm.nih.gov medlineplus ency imagepages 1456.htm title MedlinePlus Medical Encyclopedia Mononucleosis, photomicrograph of cells format work accessdate 2009 03 07 ref Causes Reactive lymphocyte ... more details
Infobox disease Name Asymptomatic inflammatory prostatitis ICD10 ICD10 N 41.9 n 40 ICD9 ICD9 601.9 Image prostatelead.jpg Caption DiseasesDB 10801 eMedicineSubj eMedicineTopic eMedicine mult MedlinePlus MeshName Prostatitis MeshNumber D011472 Asymptomatic inflammatory prostatitis is a symptomless condition of the prostate gland. ref name urlProstatitis Benign Prostate Disease Merck Manual Professional cite web url http www.merck.com mmpe sec17 ch240 ch240c.html title Prostatitis Benign Prostate Disease Merck Manual Professional work accessdate 2010 04 17 ref It should be distinguished from other forms of prostatitis such as chronic bacterial prostatitis , Acute prostatitis acute bacterial prostatitis and CPPS chronic pelvic pain syndrome CPPS . Signs and symptoms These patients have no history of genitourinary pain complaints, but leukocytosis is noted, usually during evaluation for other conditions. Diagnosis Diagnosis is through tests of semen, expressed prostatic secretion EPS or prostate tissue that reveal inflammation in the absence of symptoms. ref name pmid16280832 cite journal author Clemens JQ, Meenan RT, O Keeffe Rosetti MC, Gao SY, Calhoun EA title Incidence and clinical characteristics of National Institutes of Health type III prostatitis in the community journal J. Urol. volume 174 issue 6 pages 2319 22 year 2005 pmid 16280832 doi 10.1097 01.ju.0000182152.28519.e7 ref Treatment No treatment required. It is standard practice for men with infertility and category IV prostatitis to be given a trial of antibiotics and or anti inflammatories however evidence for efficacy are weak. ref name pmid10582781 cite journal author Weidner W, Krause W, Ludwig M title Relevance of male accessory gland infection for subsequent fertility with special focus on prostatitis journal Hum. Reprod. Update volume 5 issue 5 pages 421 32 year 1999 pmid 10582781 doi 10.1093 humupd 5.5.421 quote Several inflammatory and reactive alterations of sperm quality seem to be proven neverth ... more details
Infobox disease Name Congenital disorder of glycosylation type IIc Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 266265 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency 2 LAD 2 is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl LewisX , a ligand of P and E selectin on vascular endothelium . ref Etzioni A, Harlan JM. Cell adhesion and leukocyte adhesion defects. In Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency diseases a molecular and genetic approach. Oxford Oxford University Press, 2007 550 564. ref It is associated with SLC35C1 . ref name pmid18541720 cite journal author Yakubenia S, Frommhold D, Sch lch D, et al. title Leukocyte trafficking in a mouse model for leukocyte adhesion deficiency II congenital disorder of glycosylation IIc journal Blood volume 112 issue 4 pages 1472 81 year 2008 month August pmid 18541720 doi 10.1182 blood 2008 01 132035 url http www.bloodjournal.org cgi pmidlookup?view long&pmid 18541720 ref This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation , short stature, a distinctive facial appearance, and the Bombay hh blood phenotype, and both were secretor and Lewis negative. They both had had recurrent severe bacterial infections similar to those seen in patients with leukocyte adhesion deficiency 1 LAD 1 , including pneumonia, peridontitis, otitis media, and localized cellulitis. Similar to that in patients with LAD 1, their infections were accompanied by pronounced leukocytosis 30,000 to 150,000 mm sup 3 sup but an absence of pus formation at sites of recurrent cellulitis . In vitro studies revealed a pronounced defect in neutrophil motility. Because the genes for the red blood cell H antigen and for the secretor status encode for distinct 1,2 fucosyltransferases and ... more details
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