Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal. She had parenchymal nodules within the lungs and a calcific nodule in the liver. Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases. Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C&#x3e;T, p.Thr385Met) in the gene coding STAT1 molecule. Hematopoietic stem cell transplantation (HSCT) was planned because of severe recurring infections. Patients with STAT1 GOF mutations may exhibit diverse phenotypes including infectious and noninfectious findings. HSCT should be considered as an early treatment option before permanent organ damage leading to morbidity and mortality develops. This case is presented to prompt clinicians to consider STAT1 GOF mutations in the differential diagnosis of patients with chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.

Sanem Eren Akarcan

Ezgi Ulusoy Severcan

Neslihan Edeer Karaca

Esra Isik

Guzide Aksu

M&#xe9;lanie Migaud

Ferda Evin Gurkan

Elif Azarsiz

Anne Puel

Jean-Laurent Casanova

Necil Kutukculer

Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies

Diagnosing concomitant transverse myelitis (TM) and Guillain-Barr&#xe9; syndrome (GBS) can be challenging. We report a case of an elderly patient presenting with acute sensory and motor disturbances in the four limbs, associated with urinary retention, ophthalmoparesis, facial weakness, and dysarthria. Electrodiagnostic studies were consistent with acute motor sensory axonal neuropathy (AMSAN), and imaging showed a longitudinally extensive tumefactive contrast-enhancing hyperintense spinal cord lesion extending from T6 to the cone. Concomitant AMSAN and TM have not been previously reported in the elderly. Comorbid TM and other GBS variants have been previously reported. Intravenous methylprednisolone, plasma exchange, cyclophosphamide, or combination therapies are usually used, although there are no randomized controlled studies regarding treatment choices.

L. M. Oliveira

R. G. Cury

L. H. Castro

R. Nitrini

Concomitant Transverse Myelitis and Acute Axonal Sensory-Motor Neuropathy in an Elderly Patient

Bumsoo Park

Raghavendra C. Vemulapalli

Amit Gupta

Maria E. Shreve

Della A. Rees

Corrigendum to &#x201c;Docetaxel-Induced Systemic Sclerosis with Internal Organ Involvement Masquerading as Congestive Heart Failure&#x201d;

Background. Allergy to beer is often due to specific proteins in barley and sometimes to lipid transfer protein. Allergy to wine is frequently due to a sensitivity to grape proteins. We present a rare case of allergy to beer, wine, and cider resulting from IgE reactivity to yeasts and moulds which also explained the patient&#x2019;s additional sensitivity to yeast extracts and blue cheese. Case Presentation. The patient&#x2019;s symptoms included throat and facial itching accompanied by mild wheeze and severe urticaria. Diagnosis of allergy to yeast was confirmed by specific IgE testing as well as that to relevant foods and beverages. The patient&#x2019;s ongoing management included advice to avoid beer, wine, and other food groups containing specific yeasts, in addition to carrying a short acting nonsedating antihistamine as well as an adrenaline autoinjector. Conclusions. Cases of yeast allergy are extremely rare in medical literature but may be underrecognised and should be considered in patients presenting with reactions to alcoholic beverages and other yeast-containing products.

Rhea A. Bansal

Susan Tadros

Amolak S. Bansal

Beer, Cider, and Wine Allergy

Systemic sclerosis, or scleroderma, is a complex medical disorder characterized by limited or diffuse skin thickening with frequent involvement of internal organs such as lungs, gastrointestinal tract, or kidneys. Docetaxel is a chemotherapeutic agent which has been associated with cutaneous side effects. An uncommon cutaneous side effect of docetaxel is scleroderma-like skin changes that extend from limited to diffuse cutaneous systemic sclerosis. Several case reports have been published regarding the association of docetaxel and systemic sclerosis. However, those reports demonstrated the association between docetaxel and scleroderma-like skin changes without internal organ involvement. Here, we report a case of systemic sclerosis with pulmonary arterial hypertension and a microangiopathic kidney involvement induced by docetaxel chemotherapy. After an exhaustive literature review, this could be the first case of docetaxel-induced systemic sclerosis involving internal organs.

Docetaxel-Induced Systemic Sclerosis with Internal Organ Involvement Masquerading as Congestive Heart Failure

Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding <svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" style="vertical-align:-3.383801pt" id="M1" height="15.5415pt" version="1.1" viewBox="-0.0498162 -12.1577 44.812 15.5415" width="44.812pt"><g transform="matrix(.013,0,0,-0.013,0,0)"><path id="g121-101" d="M463 437C426 431 375 425 327 422C297 440 264 449 231 449H230C153 449 51 396 51 283C51 215 94 168 139 149C123 129 91 103 51 88C50 78 53 60 62 46C75 25 100 2 136 -9C112 -28 73 -59 53 -79C38 -94 29 -113 29 -135C30 -192 91 -257 203 -257C336 -257 452 -160 452 -59C452 39 371 59 309 59C275 59 240 58 203 58C158 58 140 77 140 96C140 110 157 129 170 138C186 135 205 133 221 133C306 133 396 185 396 293C396 328 384 360 366 381L423 378C439 387 459 413 468 429L463 437ZM219 418C277 418 314 362 314 284C314 205 275 166 231 165C176 165 137 221 137 299C137 376 177 418 219 418ZM241 -11C285 -11 314 -14 339 -24C367 -36 384 -61 384 -95C384 -157 335 -206 240 -206C166 -206 108 -165 108 -110C108 -82 128 -54 154 -32C172 -17 195 -11 241 -11Z"/></g><g transform="matrix(.013,0,0,-0.013,6.084,0)"><path id="g121-110" d="M169 380V459C122 440 66 423 24 416V392C86 384 90 382 90 317V-135C90 -201 81 -207 17 -213V-240H253V-213C176 -207 169 -201 169 -125V6C182 -1 208 -11 238 -12C368 12 487 109 487 260C487 358 421 449 310 449C298 449 279 444 261 433L169 380ZM169 346C196 367 237 389 269 389C341 389 403 329 403 221C403 109 347 37 263 37C228 37 191 53 169 76V346Z"/></g><g transform="matrix(.013,0,0,-0.013,12.896,0)"><path id="g113-58" d="M244 635C114 635 38 519 38 422C38 317 111 240 217 240C236 240 255 244 277 256L345 292C311 140 203 39 59 15L64 -15C89 -15 150 -5 204 17C339 72 440 202 440 386C440 521 368 635 244 635ZM228 602C326 602 352 479 352 390C352 370 351 347 348 324C327 308 293 296 258 296C174 296 124 369 124 458C124 517 152 602 228 602Z"/></g><g transform="matrix(.013,0,0,-0.013,19.137,0)"><path id="g113-50" d="M384 0V27C293 34 287 42 287 114V635C232 613 172 594 109 583V559L157 557C201 555 205 550 205 499V114C205 42 199 34 109 27V0H384Z"/></g><g transform="matrix(.0091,0,0,-0.0091,25.423,-5.741)"><path id="g58-110" d="M173 382V461C125 442 68 425 25 418V390C88 382 92 382 92 317V-127C92 -191 84 -199 18 -204V-235H259V-204C180 -196 173 -192 173 -120V7C188 -1 212 -11 243 -12C375 12 495 109 495 261C495 361 427 451 316 451C303 451 283 446 266 435L173 382ZM173 345C200 365 243 388 274 388C346 388 409 329 409 222C409 111 353 40 266 40C231 40 196 56 173 79V345Z"/></g><g transform="matrix(.0091,0,0,-0.0091,30.218,-5.741)"><path id="g58-102" d="M522 0V30C462 35 455 41 455 106V280C455 397 397 451 314 451C262 451 206 414 171 379V710C131 698 69 682 20 675V647C87 642 90 637 90 574V106C90 41 80 35 20 30V0H236V30C176 35 171 43 171 106V339C198 371 237 391 276 391C341 391 374 350 374 269V106C374 43 367 35 308 30V0H522Z"/></g><g transform="matrix(.0091,0,0,-0.0091,35.141,-5.741)"><path id="g58-109" d="M262 451C169 451 38 375 38 210C38 98 121 -12 261 -12C360 -12 481 64 481 227C481 351 386 451 262 451ZM249 414C337 414 385 320 385 204C385 70 333 25 272 25C189 25 134 117 134 241C134 355 189 414 249 414Z"/></g><g transform="matrix(.0091,0,0,-0.0091,39.709,-5.741)"><path id="g58-118" d="M482 0V30C420 38 407 48 370 103L273 248C308 299 331 332 352 357C387 397 401 404 463 409V439H277V409C318 405 324 400 307 369C290 337 270 307 251 279L194 367C175 396 180 402 220 409V439H18V409C74 401 87 395 117 349L204 213C173 168 147 130 119 95C78 46 67 38 5 30V0H195V30C144 38 143 47 162 79C181 112 202 149 225 181L297 70C314 43 307 35 264 30V0H482Z"/></g></svg> protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting <svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" style="vertical-align:-3.1293pt" id="M2" height="15.287pt" version="1.1" viewBox="-0.0498162 -12.1577 38.7052 15.287" width="38.7052pt"><g transform="matrix(.013,0,0,-0.013,0,0)"><use xlink:href="#g121-110"/></g><g transform="matrix(.013,0,0,-0.013,6.812,0)"><path id="g113-51" d="M412 140C382 77 369 73 315 73H129L270 222C362 320 402 379 402 466C402 571 322 635 234 635C177 635 130 609 99 576L42 495L64 475C90 514 133 568 201 568C274 568 318 519 318 435C318 349 255 267 193 193C144 135 87 78 32 23V0H405C417 45 427 89 440 131L412 140Z"/></g><g transform="matrix(.013,0,0,-0.013,13.052,0)"><use xlink:href="#g113-51"/></g><g transform="matrix(.0091,0,0,-0.0091,19.339,-5.741)"><use xlink:href="#g58-110"/></g><g transform="matrix(.0091,0,0,-0.0091,24.134,-5.741)"><use xlink:href="#g58-102"/></g><g transform="matrix(.0091,0,0,-0.0091,29.057,-5.741)"><use xlink:href="#g58-109"/></g><g transform="matrix(.0091,0,0,-0.0091,33.625,-5.741)"><use xlink:href="#g58-118"/></g></svg> protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.

Neslihan Karaca

Halil Bozkaya

Mehmet Fatih Ayik

Yasemin Ozdemir Sahan

Mehmet Arda Kilinc

Zafer Dokumcu

Cenk Eraslan

Emre Divarci

Hudaver Alper

Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes

About this journal

Case Reports in Immunology publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.

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Case Reports in Immunology - Table of contents 2017

title

Case Reports in Immunology publishes case reports and case series related to allergies, immunodeficiencies, autoimmune diseases, immune disorders, cancer immunology and transplantation immunology.

Case Reports in Immunology