Immunodeficiency, and Rheumatoid arthritis

Diseases related with Immunodeficiency and Rheumatoid arthritis

In the following list you will find some of the most common rare diseases related to Immunodeficiency and Rheumatoid arthritis that can help you solving undiagnosed cases.

Top matches:

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Other less relevant matches:

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthritis
  • Respiratory tract infection
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 53; IMD53

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

Top 5 symptoms//phenotypes associated to Immunodeficiency and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases
Autoimmunity Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Purpura Neoplasm Fever Hemolytic anemia Diarrhea Inflammation of the large intestine Pneumonia Intellectual disability Juvenile rheumatoid arthritis Hearing impairment Hypocalcemia Recurrent bacterial infections Cellulitis Specific learning disability Lymphadenopathy Hypothyroidism Respiratory tract infection Leukemia Systemic lupus erythematosus Lymphopenia Abnormal lung morphology Autoimmune hemolytic anemia Autoimmune thrombocytopenia Vitiligo Delayed speech and language development Otitis media Global developmental delay Vasculitis Skin rash

Rare Symptoms - Less than 30% cases

Skin ulcer Decreased antibody level in blood Recurrent urinary tract infections Patent ductus arteriosus Chronic diarrhea Aplasia of the uterus Sinusitis Abnormal heart morphology Neutropenia Meningitis Abnormal facial shape Seborrheic dermatitis Inguinal hernia Conjunctivitis Chronic otitis media Sepsis Blepharophimosis Myelomeningocele Duodenal stenosis Retinal vascular tortuosity Failure to thrive Hydrocephalus Seizures Short neck Fatigue Behavioral abnormality Interrupted aortic arch Abnormality of cardiovascular system morphology Impaired T cell function Obesity Depressivity Right aortic arch Dementia Perimembranous ventricular septal defect Graves disease Truncus arteriosus Bulbous nose Renal agenesis Retrognathia Low posterior hairline Tetralogy of Fallot Umbilical hernia Amenorrhea Bloody diarrhea High palate Renal dysplasia Hypoplasia of the thymus Abnormality of the pinna Chorea Bifid uvula Cognitive impairment Atrial septal defect Primary amenorrhea Ventricular septal defect Meningocele Microcephaly Hypoparathyroidism Bipolar affective disorder Cleft palate Posterior embryotoxon Acne Unilateral renal agenesis Psoriasiform dermatitis Conotruncal defect Cholelithiasis Nasal speech Posteriorly rotated ears Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Spina bifida Scoliosis Hypoplasia of the corpus callosum Arthralgia Intellectual disability, severe Renal insufficiency Low-set ears Hepatitis Bruising susceptibility Recurrent otitis media Abnormal bleeding Encephalitis Epistaxis Recurrent respiratory infections Recurrent skin infections Combined immunodeficiency Cellular immunodeficiency Generalized hypotonia Glomerulonephritis Basal ganglia calcification Acute leukemia Sacral meningocele Right aortic arch with mirror image branching Hodgkin lymphoma Lymphoma Membranoproliferative glomerulonephritis Arteria lusoria Aplasia of the thymus Splenomegaly Abnormality of the thymus Dysmetria Anal atresia Abnormality of the middle ear Psychotic episodes Peripheral demyelination Vesicoureteral reflux Underdeveloped nasal alae Psychosis Perisylvian polymicrogyria Alcoholism Open mouth Femoral hernia Hallucinations Pulmonic stenosis Decreased circulating parathyroid hormone level Congenital cataract Hernia Chronic lung disease Bronchiectasis Cerebellar atrophy Hepatosplenomegaly Vomiting Polyarticular arthritis Joint swelling Type I truncus arteriosus Absent speech Parathyroid agenesis Vascular tortuosity Hypospadias Parathyroid hypoplasia Hyperactivity Tetany Accommodative esotropia Conductive hearing impairment Anxiety Aggressive behavior Mental deterioration Esophoria Anterior segment developmental abnormality Abnormality of the hand Multicystic kidney dysplasia Ptosis Attention deficit hyperactivity disorder Pulmonary artery atresia Craniosynostosis Abnormality of the kidney Cleft lip Telecanthus Hydronephrosis Narrow mouth Microphthalmia Hypertonia Flexion contracture Strabismus Echolalia Micrognathia Hypertelorism Platybasia Mood swings Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Giant platelets Abnormality of the endocrine system Short philtrum Narrow palpebral fissure Obsessive-compulsive behavior Holoprosencephaly Sclerocornea Exotropia Amblyopia Velopharyngeal insufficiency Broad thumb Short palpebral fissure Coarctation of aorta Dysdiadochokinesis High, narrow palate Apathy Iris coloboma Microtia Hypoplasia of the brainstem Myopathic facies Abnormality of the ear Axonal loss Submucous cleft hard palate Anal stenosis Polymicrogyria Astigmatism Hearing abnormality Generalized tonic-clonic seizures Delusions Pierre-Robin sequence Paranoia Hematochezia Cataract Spastic diplegia Narrow nose Irregular vertebral endplates Recurrent sinusitis Scleroderma Hypermelanotic macule Restrictive ventilatory defect Metaphyseal irregularity Immune dysregulation Nephritis Rhizomelia Lumbar hyperlordosis Spastic tetraplegia Cerebral calcification Tetraplegia Barrel-shaped chest Spondylometaphyseal dysplasia Abnormality of the cerebral white matter Myopathy Retinopathy Weight loss Rod-cone dystrophy Alopecia Encephalopathy Dilatation Sensorineural hearing impairment Tubulointerstitial fibrosis Ataxia Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Micromelia Platyspondyly Telangiectasia Non-Hodgkin lymphoma Vasculitis in the skin Discoid lupus rash Angioedema Antinuclear antibody positivity Fatigable weakness Hypertension Lung adenocarcinoma Leukocytosis Lymphocytosis Chronic lymphatic leukemia Lymphoproliferative disorder B-cell lymphoma Hyperthyroidism Neurodegeneration Confusion Gingivitis Hyperlordosis Recurrent gram-negative bacterial infections Skeletal dysplasia Kyphoscoliosis Severe short stature Intellectual disability, mild Abnormality of the skeletal system Spasticity Recurrent staphylococcal infections Periodontitis Abnormal granulocyte morphology Severe periodontitis Decreased platelet glycoprotein IIb-IIIa Rectal abscess Recurrent bacterial skin infections Abnormal thrombocyte morphology Peritonitis Malabsorption Recurrent pneumonia Muscular hypotonia IgM deficiency Hematemesis Increased IgA level Interstitial pneumonitis Abnormality of the menstrual cycle Increased IgE level Recurrent ear infections Chronic obstructive pulmonary disease Spontaneous hematomas Recurrent lower respiratory tract infections Blepharitis Gingival bleeding Iron deficiency anemia Glomerulopathy Microcytic anemia Melena Generalized lymphadenopathy Petechiae Recurrent intrapulmonary hemorrhage Oral bleeding Specific anti-polysaccharide antibody deficiency Reduced lymphocyte surface expression of CD43 Abnormal delayed hypersensitivity skin test Absent microvilli on the surface of peripheral blood lymphocytes Chronic leukemia Small vessel vasculitis Abnormal eosinophil morphology Large vessel vasculitis Reduced delayed hypersensitivity Congenital thrombocytopenia Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet function Internal hemorrhage Prolonged bleeding time Focal segmental glomerulosclerosis Hypopigmented skin patches Pyoderma Lymph node hypoplasia Prostatitis Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Thymoma Enteroviral hepatitis Abnormality of the lymphatic system Myelopathy Cor pulmonale Agammaglobulinemia Glossoptosis Bronchitis Osteomyelitis Enteroviral dermatomyositis syndrome Peripheral neuropathy Keratitis Recurrent upper respiratory tract infections Hyperostosis Glomerulosclerosis Urticaria Intracranial hemorrhage Sarcoma Chronic kidney disease Pancytopenia Arrhythmia Eczema Sudden cardiac death Chest pain Nephropathy Cough Proteinuria Dyspnea Gastritis


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