Autoimmunity, and Splenomegaly

Diseases related with Autoimmunity and Splenomegaly

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


Top matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY


Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

Related symptoms:

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY

Medium match LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Medium match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


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

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Other less relevant matches:

Medium match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

Medium match AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME


AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tppii deficiency|triangle disease|tripeptidyl-peptidase ii deficiency|evans syndrome associated with primary immunodeficien

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


SOURCES: ORPHANET MENDELIAN

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

Medium match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Medium match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Medium match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Medium match PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS


Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS Is also known as persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes|ppbl

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

Medium match SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY


IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017).

SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY Is also known as scid due to lat deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO LAT DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Splenomegaly

Symptoms // Phenotype % cases
Lymphadenopathy Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Splenomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly Hepatomegaly Decreased antibody level in blood Thrombocytopenia Lymphoma Hemolytic anemia Lymphopenia Arthritis Lymphoproliferative disorder Chronic lymphatic leukemia Respiratory tract infection Fever

Rare Symptoms - Less than 30% cases


Ascites Rheumatoid arthritis Pancytopenia Pneumonia Immune dysregulation Severe combined immunodeficiency Generalized lymphadenopathy Bronchiectasis Recurrent upper respiratory tract infections Elevated erythrocyte sedimentation rate Lymphocytosis B-cell lymphoma Hodgkin lymphoma Pleural effusion Systemic lupus erythematosus Leukemia Hemophagocytosis Neoplasm Combined immunodeficiency Uveitis Increased antibody level in blood Cerebral palsy Granulomatosis Histiocytosis Recurrent aphthous stomatitis Stomatitis IgG deficiency Pulmonary infiltrates Growth delay Pericardial effusion Serositis Anterior uveitis Elevated C-reactive protein level Juvenile rheumatoid arthritis Joint swelling Dysgammaglobulinemia Recurrent respiratory infections Diarrhea Purpura Abnormal lung morphology Humoral immunodeficiency Follicular hyperplasia IgM deficiency Recurrent urinary tract infections Antinuclear antibody positivity Leukocytosis Sinusitis Failure to thrive Enlarged tonsils Recurrent sinopulmonary infections Recurrent pneumonia Neurodevelopmental delay Inflammation of the large intestine Recurrent bacterial infections Leukoencephalopathy Chronic diarrhea Allergy Visual loss Pericarditis Cellular immunodeficiency Jaundice Headache Cardiomyopathy Abnormality of the skeletal system Fatigue Short stature Non-Hodgkin lymphoma Lung adenocarcinoma B lymphocytopenia Erythema Acute leukemia Hyperthyroidism Neurodegeneration Interstitial pneumonitis Autoimmune neutropenia T-cell lymphoma Impaired T cell function Aplastic anemia Hypertrophic cardiomyopathy Delayed puberty Falls Recurrent otitis media Skin rash Myalgia Arthralgia Abdominal pain Visual impairment Moderate global developmental delay Autoimmune thrombocytopenia Sepsis Hemiparesis Decrease in T cell count Hepatitis Stroke Erythroid hypoplasia Elliptocytosis Spherocytosis Reticulocytosis Cholelithiasis Hyperbilirubinemia Palpitations Chronic lung disease



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